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Last Name
Institution

Marcy Elizabeth MacDonald, PH.D.

TitleProfessor of Neurology
InstitutionMassachusetts General Hospital
DepartmentNeurology
AddressMassachusetts General Hospital
Richard B. Simches Research Center, Rm 5414
185 Cambridge St
Boston MA 02114
Phone617/726-5089
Fax617/726-5735

 Research 
 research resources
This researcher has shared information about their research resources
in the eagle-i Network. To update or add resource records, contact
eagle-i@hms.harvard.edu.
CHGR Genotyping Resource (MGH) - Core services (4) and Instruments (2)

 Bibliographic 
 selected publications
Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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  1. Hölter SM, Stromberg M, Kovalenko M, Garrett L, Glasl L, Lopez E, Guide J, Götz A, Hans W, Becker L, Rathkolb B, Rozman J, Schrewed A, Klingenspor M, Klopstock T, Schulz H, Wolf E, Wursta W, Gillis T, Wakimoto H, Seidman J, Macdonald ME, Cotman S, Gailus-Durner V, Fuchs H, de Angelis MH, Lee JM, Wheeler VC. A Broad Phenotypic Screen Identifies Novel Phenotypes Driven by a Single Mutant Allele in Huntington's Disease CAG Knock-In Mice. PLoS One. 2013; 8(11):e80923.
    View in: PubMed
  2. Ramos EM, Latourelle JC, Gillis T, Mysore JS, Squitieri F, Di Pardo A, Di Donato S, Gellera C, Hayden MR, Morrison PJ, Nance M, Ross CA, Margolis RL, Gomez-Tortosa E, Ayuso C, Suchowersky O, Trent RJ, McCusker E, Novelletto A, Frontali M, Jones R, Ashizawa T, Frank S, Saint-Hilaire MH, Hersch SM, Rosas HD, Lucente D, Harrison MB, Zanko A, Abramson RK, Marder K, Gusella JF, Lee JM, Alonso I, Sequeiros J, Myers RH, Macdonald ME. Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset. Neurogenetics. 2013 Nov; 14(3-4):173-9.
    View in: PubMed
  3. Zhang B, Gaiteri C, Bodea LG, Wang Z, McElwee J, Podtelezhnikov AA, Zhang C, Xie T, Tran L, Dobrin R, Fluder E, Clurman B, Melquist S, Narayanan M, Suver C, Shah H, Mahajan M, Gillis T, Mysore J, MacDonald ME, Lamb JR, Bennett DA, Molony C, Stone DJ, Gudnason V, Myers AJ, Schadt EE, Neumann H, Zhu J, Emilsson V. Integrated systems approach identifies genetic nodes and networks in late-onset Alzheimer's disease. Cell. 2013 Apr 25; 153(3):707-20.
    View in: PubMed
  4. Lee JM, Galkina EI, Levantovsky RM, Fossale E, Anne Anderson M, Gillis T, Srinidhi Mysore J, Coser KR, Shioda T, Zhang B, Furia MD, Derry J, Kohane IS, Seong IS, Wheeler VC, Gusella JF, Macdonald ME. Dominant effects of the Huntington's disease HTT CAG repeat length are captured in gene-expression data sets by a continuous analysis mathematical modeling strategy. Hum Mol Genet. 2013 Aug 15; 22(16):3227-38.
    View in: PubMed
  5. Talkowski ME, Maussion G, Crapper L, Rosenfeld JA, Blumenthal I, Hanscom C, Chiang C, Lindgren A, Pereira S, Ruderfer D, Diallo AB, Lopez JP, Turecki G, Chen ES, Gigek C, Harris DJ, Lip V, An Y, Biagioli M, Macdonald ME, Lin M, Haggarty SJ, Sklar P, Purcell S, Kellis M, Schwartz S, Shaffer LG, Natowicz MR, Shen Y, Morton CC, Gusella JF, Ernst C. Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities. Am J Hum Genet. 2012 Dec 7; 91(6):1128-34.
    View in: PubMed
  6. Conforti P, Camnasio S, Mutti C, Valenza M, Thompson M, Fossale E, Zeitlin S, Macdonald ME, Zuccato C, Cattaneo E. Lack of huntingtin promotes neural stem cells differentiation into glial cells while neurons expressing huntingtin with expanded polyglutamine tracts undergo cell death. Neurobiol Dis. 2013 Feb; 50:160-70.
    View in: PubMed
  7. Hadzi TC, Hendricks AE, Latourelle JC, Lunetta KL, Cupples LA, Gillis T, Mysore JS, Gusella JF, MacDonald ME, Myers RH, Vonsattel JP. Assessment of cortical and striatal involvement in 523 Huntington disease brains. Neurology. 2012 Oct 16; 79(16):1708-15.
    View in: PubMed
  8. Aziz NA, Roos RA, Gusella JF, Lee JM, Macdonald ME. CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion. Neurology. 2012 Aug 28; 79(9):952; author reply 952-3.
    View in: PubMed
  9. Ramos EM, Latourelle JC, Lee JH, Gillis T, Mysore JS, Squitieri F, Di Pardo A, Di Donato S, Hayden MR, Morrison PJ, Nance M, Ross CA, Margolis RL, Gomez-Tortosa E, Ayuso C, Suchowersky O, Trent RJ, McCusker E, Novelletto A, Frontali M, Jones R, Ashizawa T, Frank S, Saint-Hilaire MH, Hersch SM, Rosas HD, Lucente D, Harrison MB, Zanko A, Marder K, Gusella JF, Lee JM, Alonso I, Sequeiros J, Myers RH, Macdonald ME. Population stratification may bias analysis of PGC-1a as a modifier of age at Huntington disease motor onset. Hum Genet. 2012 Dec; 131(12):1833-40.
    View in: PubMed
  10. Kim HG, Kim HT, Leach NT, Lan F, Ullmann R, Silahtaroglu A, Kurth I, Nowka A, Seong IS, Shen Y, Talkowski ME, Ruderfer D, Lee JH, Glotzbach C, Ha K, Kjaergaard S, Levin AV, Romeike BF, Kleefstra T, Bartsch O, Elsea SH, Jabs EW, MacDonald ME, Harris DJ, Quade BJ, Ropers HH, Shaffer LG, Kutsche K, Layman LC, Tommerup N, Kalscheuer VM, Shi Y, Morton CC, Kim CH, Gusella JF. Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies. Am J Hum Genet. 2012 Jul 13; 91(1):56-72.
    View in: PubMed
  11. Lee JH, Lee JM, Ramos EM, Gillis T, Mysore JS, Kishikawa S, Hadzi T, Hendricks AE, Hayden MR, Morrison PJ, Nance M, Ross CA, Margolis RL, Squitieri F, Gellera C, Gomez-Tortosa E, Ayuso C, Suchowersky O, Trent RJ, McCusker E, Novelletto A, Frontali M, Jones R, Ashizawa T, Frank S, Saint-Hilaire MH, Hersch SM, Rosas HD, Lucente D, Harrison MB, Zanko A, Abramson RK, Marder K, Sequeiros J, Landwehrmeyer GB, Shoulson I, Myers RH, MacDonald ME, Gusella JF. TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease. Biochem Biophys Res Commun. 2012 Aug 3; 424(3):404-8.
    View in: PubMed
  12. Staropoli JF, Karaa A, Lim ET, Kirby A, Elbalalesy N, Romansky SG, Leydiker KB, Coppel SH, Barone R, Xin W, MacDonald ME, Abdenur JE, Daly MJ, Sims KB, Cotman SL. A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system. Am J Hum Genet. 2012 Jul 13; 91(1):202-8.
    View in: PubMed
  13. Ramos EM, Keagle P, Gillis T, Lowe P, Mysore JS, Leclerc AL, Ratti A, Ticozzi N, Gellera C, Gusella JF, Silani V, Alonso I, Brown RH, MacDonald ME, Landers JE. Prevalence of Huntington's disease gene CAG repeat alleles in sporadic amyotrophic lateral sclerosis patients. Amyotroph Lateral Scler. 2012 May; 13(3):265-9.
    View in: PubMed
  14. Chiang C, Jacobsen JC, Ernst C, Hanscom C, Heilbut A, Blumenthal I, Mills RE, Kirby A, Lindgren AM, Rudiger SR, McLaughlan CJ, Bawden CS, Reid SJ, Faull RL, Snell RG, Hall IM, Shen Y, Ohsumi TK, Borowsky ML, Daly MJ, Lee C, Morton CC, MacDonald ME, Gusella JF, Talkowski ME. Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration. Nat Genet. 2012 Apr; 44(4):390-7, S1.
    View in: PubMed
  15. Lee JM, Gillis T, Mysore JS, Ramos EM, Myers RH, Hayden MR, Morrison PJ, Nance M, Ross CA, Margolis RL, Squitieri F, Griguoli A, Di Donato S, Gomez-Tortosa E, Ayuso C, Suchowersky O, Trent RJ, McCusker E, Novelletto A, Frontali M, Jones R, Ashizawa T, Frank S, Saint-Hilaire MH, Hersch SM, Rosas HD, Lucente D, Harrison MB, Zanko A, Abramson RK, Marder K, Sequeiros J, MacDonald ME, Gusella JF. Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region. Am J Hum Genet. 2012 Mar 9; 90(3):434-44.
    View in: PubMed
  16. Lee JM, Ramos EM, Lee JH, Gillis T, Mysore JS, Hayden MR, Warby SC, Morrison P, Nance M, Ross CA, Margolis RL, Squitieri F, Orobello S, Di Donato S, Gomez-Tortosa E, Ayuso C, Suchowersky O, Trent RJ, McCusker E, Novelletto A, Frontali M, Jones R, Ashizawa T, Frank S, Saint-Hilaire MH, Hersch SM, Rosas HD, Lucente D, Harrison MB, Zanko A, Abramson RK, Marder K, Sequeiros J, Paulsen JS, Landwehrmeyer GB, Myers RH, MacDonald ME, Gusella JF. CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion. Neurology. 2012 Mar 6; 78(10):690-5.
    View in: PubMed
  17. Fossale E, Seong IS, Coser KR, Shioda T, Kohane IS, Wheeler VC, Gusella JF, MacDonald ME, Lee JM. Differential effects of the Huntington's disease CAG mutation in striatum and cerebellum are quantitative not qualitative. Hum Mol Genet. 2011 Nov 1; 20(21):4258-67.
    View in: PubMed
  18. Jacobsen JC, Gregory GC, Woda JM, Thompson MN, Coser KR, Murthy V, Kohane IS, Gusella JF, Seong IS, MacDonald ME, Shioda T, Lee JM. HD CAG-correlated gene expression changes support a simple dominant gain of function. Hum Mol Genet. 2011 Jul 15; 20(14):2846-60.
    View in: PubMed
  19. Myre MA, Lumsden AL, Thompson MN, Wasco W, MacDonald ME, Gusella JF. Deficiency of huntingtin has pleiotropic effects in the social amoeba Dictyostelium discoideum. PLoS Genet. 2011 Apr; 7(4):e1002052.
    View in: PubMed
  20. Reis SA, Thompson MN, Lee JM, Fossale E, Kim HH, Liao JK, Moskowitz MA, Shaw SY, Dong L, Haggarty SJ, MacDonald ME, Seong IS. Striatal neurons expressing full-length mutant huntingtin exhibit decreased N-cadherin and altered neuritogenesis. Hum Mol Genet. 2011 Jun 15; 20(12):2344-55.
    View in: PubMed
  21. Cao Y, Staropoli JF, Biswas S, Espinola JA, MacDonald ME, Lee JM, Cotman SL. Distinct early molecular responses to mutations causing vLINCL and JNCL presage ATP synthase subunit C accumulation in cerebellar cells. PLoS One. 2011; 6(2):e17118.
    View in: PubMed
  22. Gohil VM, Offner N, Walker JA, Sheth SA, Fossale E, Gusella JF, MacDonald ME, Neri C, Mootha VK. Meclizine is neuroprotective in models of Huntington's disease. Hum Mol Genet. 2011 Jan 15; 20(2):294-300.
    View in: PubMed
  23. Valenza M, Leoni V, Karasinska JM, Petricca L, Fan J, Carroll J, Pouladi MA, Fossale E, Nguyen HP, Riess O, MacDonald M, Wellington C, DiDonato S, Hayden M, Cattaneo E. Cholesterol defect is marked across multiple rodent models of Huntington's disease and is manifest in astrocytes. J Neurosci. 2010 Aug 11; 30(32):10844-50.
    View in: PubMed
  24. Surolia I, Pirnie SP, Chellappa V, Taylor KN, Cariappa A, Moya J, Liu H, Bell DW, Driscoll DR, Diederichs S, Haider K, Netravali I, Le S, Elia R, Dow E, Lee A, Freudenberg J, De Jager PL, Chretien Y, Varki A, MacDonald ME, Gillis T, Behrens TW, Bloch D, Collier D, Korzenik J, Podolsky DK, Hafler D, Murali M, Sands B, Stone JH, Gregersen PK, Pillai S. Functionally defective germline variants of sialic acid acetylesterase in autoimmunity. Nature. 2010 Jul 8; 466(7303):243-7.
    View in: PubMed
  25. Perlis RH, Smoller JW, Mysore J, Sun M, Gillis T, Purcell S, Rietschel M, Nöthen MM, Witt S, Maier W, Iosifescu DV, Sullivan P, Rush AJ, Fava M, Breiter H, Macdonald M, Gusella J. Prevalence of incompletely penetrant Huntington's disease alleles among individuals with major depressive disorder. Am J Psychiatry. 2010 May; 167(5):574-9.
    View in: PubMed
  26. Lee JM, Zhang J, Su AI, Walker JR, Wiltshire T, Kang K, Dragileva E, Gillis T, Lopez ET, Boily MJ, Cyr M, Kohane I, Gusella JF, MacDonald ME, Wheeler VC. A novel approach to investigate tissue-specific trinucleotide repeat instability. BMC Syst Biol. 2010; 4:29.
    View in: PubMed
  27. Jacobsen JC, Bawden CS, Rudiger SR, McLaughlan CJ, Reid SJ, Waldvogel HJ, MacDonald ME, Gusella JF, Walker SK, Kelly JM, Webb GC, Faull RL, Rees MI, Snell RG. An ovine transgenic Huntington's disease model. Hum Mol Genet. 2010 May 15; 19(10):1873-82.
    View in: PubMed
  28. Seong IS, Woda JM, Song JJ, Lloret A, Abeyrathne PD, Woo CJ, Gregory G, Lee JM, Wheeler VC, Walz T, Kingston RE, Gusella JF, Conlon RA, MacDonald ME. Huntingtin facilitates polycomb repressive complex 2. Hum Mol Genet. 2010 Feb 15; 19(4):573-83.
    View in: PubMed
  29. Gusella JF, MacDonald ME. Huntington's disease: the case for genetic modifiers. Genome Med. 2009; 1(8):80.
    View in: PubMed
  30. Hendricks AE, Latourelle JC, Lunetta KL, Cupples LA, Wheeler V, MacDonald ME, Gusella JF, Myers RH. Estimating the probability of de novo HD cases from transmissions of expanded penetrant CAG alleles in the Huntington disease gene from male carriers of high normal alleles (27-35 CAG). Am J Med Genet A. 2009 Jul; 149A(7):1375-81.
    View in: PubMed
  31. Menalled L, El-Khodor BF, Patry M, Suárez-Fariñas M, Orenstein SJ, Zahasky B, Leahy C, Wheeler V, Yang XW, MacDonald M, Morton AJ, Bates G, Leeds J, Park L, Howland D, Signer E, Tobin A, Brunner D. Systematic behavioral evaluation of Huntington's disease transgenic and knock-in mouse models. Neurobiol Dis. 2009 Sep; 35(3):319-36.
    View in: PubMed
  32. Carnemolla A, Fossale E, Agostoni E, Michelazzi S, Calligaris R, De Maso L, Del Sal G, MacDonald ME, Persichetti F. Rrs1 is involved in endoplasmic reticulum stress response in Huntington disease. J Biol Chem. 2009 Jul 3; 284(27):18167-73.
    View in: PubMed
  33. Dragileva E, Hendricks A, Teed A, Gillis T, Lopez ET, Friedberg EC, Kucherlapati R, Edelmann W, Lunetta KL, MacDonald ME, Wheeler VC. Intergenerational and striatal CAG repeat instability in Huntington's disease knock-in mice involve different DNA repair genes. Neurobiol Dis. 2009 Jan; 33(1):37-47.
    View in: PubMed
  34. McNicoll CF, Latourelle JC, MacDonald ME, Lew MF, Suchowersky O, Klein C, Golbe LI, Mark MH, Growdon JH, Wooten GF, Watts RL, Guttman M, Racette BA, Perlmutter JS, Ahmed A, Shill HA, Singer C, Saint-Hilaire MH, Massood T, Huskey KW, DeStefano AL, Gillis T, Mysore J, Goldwurm S, Pezzoli G, Baker KB, Itin I, Litvan I, Nicholson G, Corbett A, Nance M, Drasby E, Isaacson S, Burn DJ, Chinnery PF, Pramstaller PP, Al-Hinti J, Moller AT, Ostergaard K, Sherman SJ, Roxburgh R, Snow B, Slevin JT, Cambi F, Gusella JF, Myers RH. Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: the GenePD study. Mov Disord. 2008 Aug 15; 23(11):1596-601.
    View in: PubMed
  35. Higgins AW, Alkuraya FS, Bosco AF, Brown KK, Bruns GA, Donovan DJ, Eisenman R, Fan Y, Farra CG, Ferguson HL, Gusella JF, Harris DJ, Herrick SR, Kelly C, Kim HG, Kishikawa S, Korf BR, Kulkarni S, Lally E, Leach NT, Lemyre E, Lewis J, Ligon AH, Lu W, Maas RL, MacDonald ME, Moore SD, Peters RE, Quade BJ, Quintero-Rivera F, Saadi I, Shen Y, Shendure J, Williamson RE, Morton CC. Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project. Am J Hum Genet. 2008 Mar; 82(3):712-22.
    View in: PubMed
  36. Kim HG, Kishikawa S, Higgins AW, Seong IS, Donovan DJ, Shen Y, Lally E, Weiss LA, Najm J, Kutsche K, Descartes M, Holt L, Braddock S, Troxell R, Kaplan L, Volkmar F, Klin A, Tsatsanis K, Harris DJ, Noens I, Pauls DL, Daly MJ, MacDonald ME, Morton CC, Quade BJ, Gusella JF. Disruption of neurexin 1 associated with autism spectrum disorder. Am J Hum Genet. 2008 Jan; 82(1):199-207.
    View in: PubMed
  37. Paulsen JS, Langbehn DR, Stout JC, Aylward E, Ross CA, Nance M, Guttman M, Johnson S, MacDonald M, Beglinger LJ, Duff K, Kayson E, Biglan K, Shoulson I, Oakes D, Hayden M. Detection of Huntington's disease decades before diagnosis: the Predict-HD study. J Neurol Neurosurg Psychiatry. 2008 Aug; 79(8):874-80.
    View in: PubMed
  38. Zuccato C, Marullo M, Conforti P, MacDonald ME, Tartari M, Cattaneo E. Systematic assessment of BDNF and its receptor levels in human cortices affected by Huntington's disease. Brain Pathol. 2008 Apr; 18(2):225-38.
    View in: PubMed
  39. Gusella JF, MacDonald ME. Expanding the notion of disease in Huntington's disease. Biol Psychiatry. 2007 Dec 15; 62(12):1340.
    View in: PubMed
  40. Wheeler VC, Persichetti F, McNeil SM, Mysore JS, Mysore SS, MacDonald ME, Myers RH, Gusella JF, Wexler NS. Factors associated with HD CAG repeat instability in Huntington disease. J Med Genet. 2007 Nov; 44(11):695-701.
    View in: PubMed
  41. Lee JM, Ivanova EV, Seong IS, Cashorali T, Kohane I, Gusella JF, MacDonald ME. Unbiased gene expression analysis implicates the huntingtin polyglutamine tract in extra-mitochondrial energy metabolism. PLoS Genet. 2007 Aug; 3(8):e135.
    View in: PubMed
  42. Zuccato C, Belyaev N, Conforti P, Ooi L, Tartari M, Papadimou E, MacDonald M, Fossale E, Zeitlin S, Buckley N, Cattaneo E. Widespread disruption of repressor element-1 silencing transcription factor/neuron-restrictive silencer factor occupancy at its target genes in Huntington's disease. J Neurosci. 2007 Jun 27; 27(26):6972-83.
    View in: PubMed
  43. Kim HG, Higgins AW, Herrick SR, Kishikawa S, Nicholson L, Kutsche K, Ligon AH, Harris DJ, MacDonald ME, Bruns GA, Morton CC, Quade BJ, Gusella JF. Candidate loci for Zimmermann-Laband syndrome at 3p14.3. Am J Med Genet A. 2007 Jan 15; 143(2):107-11.
    View in: PubMed
  44. Wilk JB, Tobin JE, Suchowersky O, Shill HA, Klein C, Wooten GF, Lew MF, Mark MH, Guttman M, Watts RL, Singer C, Growdon JH, Latourelle JC, Saint-Hilaire MH, DeStefano AL, Prakash R, Williamson S, Berg CJ, Sun M, Goldwurm S, Pezzoli G, Racette BA, Perlmutter JS, Parsian A, Baker KB, Giroux ML, Litvan I, Pramstaller PP, Nicholson G, Burn DJ, Chinnery PF, Vieregge P, Slevin JT, Cambi F, MacDonald ME, Gusella JF, Myers RH, Golbe LI. Herbicide exposure modifies GSTP1 haplotype association to Parkinson onset age: the GenePD Study. Neurology. 2006 Dec 26; 67(12):2206-10.
    View in: PubMed
  45. Andresen JM, Gayán J, Djoussé L, Roberts S, Brocklebank D, Cherny SS. The relationship between CAG repeat length and age of onset differs for Huntington's disease patients with juvenile onset or adult onset. Ann Hum Genet. 2007 May; 71(Pt 3):295-301.
    View in: PubMed
  46. Zhang Y, Leavitt BR, van Raamsdonk JM, Dragatsis I, Goldowitz D, MacDonald ME, Hayden MR, Friedlander RM. Huntingtin inhibits caspase-3 activation. EMBO J. 2006 Dec 13; 25(24):5896-906.
    View in: PubMed
  47. Gusella JF, Macdonald M. Genetic criteria for Huntington's disease pathogenesis. Brain Res Bull. 2007 Apr 30; 72(2-3):78-82.
    View in: PubMed
  48. Thomas NS, Wiseman K, Spurlock G, MacDonald M, Ustek D, Upadhyaya M. A large patient study confirming that facioscapulohumeral muscular dystrophy (FSHD) disease expression is almost exclusively associated with an FSHD locus located on a 4qA-defined 4qter subtelomere. J Med Genet. 2007 Mar; 44(3):215-8.
    View in: PubMed
  49. Zeng W, Gillis T, Hakky M, Djoussé L, Myers RH, MacDonald ME, Gusella JF. Genetic analysis of the GRIK2 modifier effect in Huntington's disease. BMC Neurosci. 2006; 7:62.
    View in: PubMed
  50. Kishikawa S, Li JL, Gillis T, Hakky MM, Warby S, Hayden M, MacDonald ME, Myers RH, Gusella JF. Brain-derived neurotrophic factor does not influence age at neurologic onset of Huntington's disease. Neurobiol Dis. 2006 Nov; 24(2):280-5.
    View in: PubMed
  51. Li JL, Hayden MR, Warby SC, Durr A, Morrison PJ, Nance M, Ross CA, Margolis RL, Rosenblatt A, Squitieri F, Frati L, Gómez-Tortosa E, García CA, Suchowersky O, Klimek ML, Trent RJ, McCusker E, Novelletto A, Frontali M, Paulsen JS, Jones R, Ashizawa T, Lazzarini A, Wheeler VC, Prakash R, Xu G, Djoussé L, Mysore JS, Gillis T, Hakky M, Cupples LA, Saint-Hilaire MH, Cha JH, Hersch SM, Penney JB, Harrison MB, Perlman SL, Zanko A, Abramson RK, Lechich AJ, Duckett A, Marder K, Conneally PM, Gusella JF, MacDonald ME, Myers RH. Genome-wide significance for a modifier of age at neurological onset in Huntington's disease at 6q23-24: the HD MAPS study. BMC Med Genet. 2006; 7:71.
    View in: PubMed
  52. Gusella JF, MacDonald ME. Huntington's disease: seeing the pathogenic process through a genetic lens. Trends Biochem Sci. 2006 Sep; 31(9):533-40.
    View in: PubMed
  53. Altmann SM, Muryshev A, Fossale E, Maxwell MM, Norflus FN, Fox J, Hersch SM, Young AB, MacDonald ME, Abagyan R, Kazantsev AG. Discovery of bioactive small-molecule inhibitor of poly adp-ribose polymerase: implications for energy-deficient cells. Chem Biol. 2006 Jul; 13(7):765-70.
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  54. Sun M, Latourelle JC, Wooten GF, Lew MF, Klein C, Shill HA, Golbe LI, Mark MH, Racette BA, Perlmutter JS, Parsian A, Guttman M, Nicholson G, Xu G, Wilk JB, Saint-Hilaire MH, DeStefano AL, Prakash R, Williamson S, Suchowersky O, Labelle N, Growdon JH, Singer C, Watts RL, Goldwurm S, Pezzoli G, Baker KB, Pramstaller PP, Burn DJ, Chinnery PF, Sherman S, Vieregge P, Litvan I, Gillis T, MacDonald ME, Myers RH, Gusella JF. Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study. Arch Neurol. 2006 Jun; 63(6):826-32.
    View in: PubMed
  55. Cao Y, Espinola JA, Fossale E, Massey AC, Cuervo AM, MacDonald ME, Cotman SL. Autophagy is disrupted in a knock-in mouse model of juvenile neuronal ceroid lipofuscinosis. J Biol Chem. 2006 Jul 21; 281(29):20483-93.
    View in: PubMed
  56. Guidetti P, Bates GP, Graham RK, Hayden MR, Leavitt BR, MacDonald ME, Slow EJ, Wheeler VC, Woodman B, Schwarcz R. Elevated brain 3-hydroxykynurenine and quinolinate levels in Huntington disease mice. Neurobiol Dis. 2006 Jul; 23(1):190-7.
    View in: PubMed
  57. Lloret A, Dragileva E, Teed A, Espinola J, Fossale E, Gillis T, Lopez E, Myers RH, MacDonald ME, Wheeler VC. Genetic background modifies nuclear mutant huntingtin accumulation and HD CAG repeat instability in Huntington's disease knock-in mice. Hum Mol Genet. 2006 Jun 15; 15(12):2015-24.
    View in: PubMed
  58. Shibata M, Lu T, Furuya T, Degterev A, Mizushima N, Yoshimori T, MacDonald M, Yankner B, Yuan J. Regulation of intracellular accumulation of mutant Huntingtin by Beclin 1. J Biol Chem. 2006 May 19; 281(20):14474-85.
    View in: PubMed
  59. Hickey AJ, Chotkowski HL, Singh N, Ault JG, Korey CA, MacDonald ME, Glaser RL. Palmitoyl-protein thioesterase 1 deficiency in Drosophila melanogaster causes accumulation of abnormal storage material and reduced life span. Genetics. 2006 Apr; 172(4):2379-90.
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  60. Kartsaki E, Spanaki C, Tzagournissakis M, Petsakou A, Moschonas N, Macdonald M, Plaitakis A. Late-onset and typical Huntington disease families from Crete have distinct genetic origins. Int J Mol Med. 2006 Feb; 17(2):335-46.
    View in: PubMed
  61. Chen-Plotkin AS, Sadri-Vakili G, Yohrling GJ, Braveman MW, Benn CL, Glajch KE, DiRocco DP, Farrell LA, Krainc D, Gines S, MacDonald ME, Cha JH. Decreased association of the transcription factor Sp1 with genes downregulated in Huntington's disease. Neurobiol Dis. 2006 May; 22(2):233-41.
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  62. Araki KY, Fujimura S, MacDonald ME, Bhide PG. Characterization of mouse striatal precursor cell lines expressing functional dopamine receptors. Dev Neurosci. 2006; 28(6):518-27.
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  63. Seong IS, Ivanova E, Lee JM, Choo YS, Fossale E, Anderson M, Gusella JF, Laramie JM, Myers RH, Lesort M, MacDonald ME. HD CAG repeat implicates a dominant property of huntingtin in mitochondrial energy metabolism. Hum Mol Genet. 2005 Oct 1; 14(19):2871-80.
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  64. Woda JM, Calzonetti T, Hilditch-Maguire P, Duyao MP, Conlon RA, MacDonald ME. Inactivation of the Huntington's disease gene (Hdh) impairs anterior streak formation and early patterning of the mouse embryo. BMC Dev Biol. 2005; 5:17.
    View in: PubMed
  65. Hickey AJ, Ault JG, Korey CA, Macdonald ME, Glaser RL. Drosophila melanogaster Lacking the Lysosomal Enzyme Palmitoyl-Protein Thioesterase 1 Accumulate Aberrant Ultrastructural Deposits in the Form of Laminar Cytoplasmic Bodies. Microsc Microanal. 2005 Aug; 11 Suppl 2:1034-5.
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  66. Kim HG, Herrick SR, Lemyre E, Kishikawa S, Salisz JA, Seminara S, MacDonald ME, Bruns GA, Morton CC, Quade BJ, Gusella JF. Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1. J Med Genet. 2005 Aug; 42(8):666-72.
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  67. Pontikis CC, Cotman SL, MacDonald ME, Cooper JD. Thalamocortical neuron loss and localized astrocytosis in the Cln3Deltaex7/8 knock-in mouse model of Batten disease. Neurobiol Dis. 2005 Dec; 20(3):823-36.
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  68. Miller TW, Zhou C, Gines S, MacDonald ME, Mazarakis ND, Bates GP, Huston JS, Messer A. A human single-chain Fv intrabody preferentially targets amino-terminal Huntingtin's fragments in striatal models of Huntington's disease. Neurobiol Dis. 2005 Jun-Jul; 19(1-2):47-56.
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  69. Zeng WQ, Al-Yamani E, Acierno JS, Slaugenhaupt S, Gillis T, MacDonald ME, Ozand PT, Gusella JF. Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3. Am J Hum Genet. 2005 Jul; 77(1):16-26.
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  70. Wang J, Gines S, MacDonald ME, Gusella JF. Reversal of a full-length mutant huntingtin neuronal cell phenotype by chemical inhibitors of polyglutamine-mediated aggregation. BMC Neurosci. 2005; 6:1.
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  71. Fossale E, Wolf P, Espinola JA, Lubicz-Nawrocka T, Teed AM, Gao H, Rigamonti D, Cattaneo E, MacDonald ME, Cotman SL. Membrane trafficking and mitochondrial abnormalities precede subunit c deposition in a cerebellar cell model of juvenile neuronal ceroid lipofuscinosis. BMC Neurosci. 2004 Dec 10; 5:57.
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  72. Margolis RL, Holmes SE, Rosenblatt A, Gourley L, O'Hearn E, Ross CA, Seltzer WK, Walker RH, Ashizawa T, Rasmussen A, Hayden M, Almqvist EW, Harris J, Fahn S, MacDonald ME, Mysore J, Shimohata T, Tsuji S, Potter N, Nakaso K, Adachi Y, Nakashima K, Bird T, Krause A, Greenstein P. Huntington's Disease-like 2 (HDL2) in North America and Japan. Ann Neurol. 2004 Nov; 56(5):670-4.
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  73. Gauthier LR, Charrin BC, Borrell-Pagès M, Dompierre JP, Rangone H, Cordelières FP, De Mey J, MacDonald ME, Lessmann V, Humbert S, Saudou F. Huntingtin controls neurotrophic support and survival of neurons by enhancing BDNF vesicular transport along microtubules. Cell. 2004 Jul 9; 118(1):127-38.
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  74. Choo YS, Johnson GV, MacDonald M, Detloff PJ, Lesort M. Mutant huntingtin directly increases susceptibility of mitochondria to the calcium-induced permeability transition and cytochrome c release. Hum Mol Genet. 2004 Jul 15; 13(14):1407-20.
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  75. Djoussé L, Knowlton B, Hayden MR, Almqvist EW, Brinkman RR, Ross CA, Margolis RL, Rosenblatt A, Durr A, Dode C, Morrison PJ, Novelletto A, Frontali M, Trent RJ, McCusker E, Gómez-Tortosa E, Mayo Cabrero D, Jones R, Zanko A, Nance M, Abramson RK, Suchowersky O, Paulsen JS, Harrison MB, Yang Q, Cupples LA, Mysore J, Gusella JF, MacDonald ME, Myers RH. Evidence for a modifier of onset age in Huntington disease linked to the HD gene in 4p16. Neurogenetics. 2004 Jun; 5(2):109-14.
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  76. Wexler NS, Lorimer J, Porter J, Gomez F, Moskowitz C, Shackell E, Marder K, Penchaszadeh G, Roberts SA, Gayán J, Brocklebank D, Cherny SS, Cardon LR, Gray J, Dlouhy SR, Wiktorski S, Hodes ME, Conneally PM, Penney JB, Gusella J, Cha JH, Irizarry M, Rosas D, Hersch S, Hollingsworth Z, MacDonald M, Young AB, Andresen JM, Housman DE, De Young MM, Bonilla E, Stillings T, Negrette A, Snodgrass SR, Martinez-Jaurrieta MD, Ramos-Arroyo MA, Bickham J, Ramos JS, Marshall F, Shoulson I, Rey GJ, Feigin A, Arnheim N, Acevedo-Cruz A, Acosta L, Alvir J, Fischbeck K, Thompson LM, Young A, Dure L, O'Brien CJ, Paulsen J, Brickman A, Krch D, Peery S, Hogarth P, Higgins DS, Landwehrmeyer B. Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset. Proc Natl Acad Sci U S A. 2004 Mar 9; 101(10):3498-503.
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  77. Ruan Q, Lesort M, MacDonald ME, Johnson GV. Striatal cells from mutant huntingtin knock-in mice are selectively vulnerable to mitochondrial complex II inhibitor-induced cell death through a non-apoptotic pathway. Hum Mol Genet. 2004 Apr 1; 13(7):669-81.
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  78. Rangone H, Poizat G, Troncoso J, Ross CA, MacDonald ME, Saudou F, Humbert S. The serum- and glucocorticoid-induced kinase SGK inhibits mutant huntingtin-induced toxicity by phosphorylating serine 421 of huntingtin. Eur J Neurosci. 2004 Jan; 19(2):273-9.
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  79. Korey CA, MacDonald ME. An over-expression system for characterizing Ppt1 function in Drosophila. BMC Neurosci. 2003 Nov 20; 4:30.
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  80. MacDonald ME. Huntingtin: alive and well and working in middle management. Sci STKE. 2003 Nov 4; 2003(207):pe48.
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  81. Gines S, Ivanova E, Seong IS, Saura CA, MacDonald ME. Enhanced Akt signaling is an early pro-survival response that reflects N-methyl-D-aspartate receptor activation in Huntington's disease knock-in striatal cells. J Biol Chem. 2003 Dec 12; 278(50):50514-22.
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  82. Szebenyi G, Morfini GA, Babcock A, Gould M, Selkoe K, Stenoien DL, Young M, Faber PW, MacDonald ME, McPhaul MJ, Brady ST. Neuropathogenic forms of huntingtin and androgen receptor inhibit fast axonal transport. Neuron. 2003 Sep 25; 40(1):41-52.
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  83. Li JL, Hayden MR, Almqvist EW, Brinkman RR, Durr A, Dodé C, Morrison PJ, Suchowersky O, Ross CA, Margolis RL, Rosenblatt A, Gómez-Tortosa E, Cabrero DM, Novelletto A, Frontali M, Nance M, Trent RJ, McCusker E, Jones R, Paulsen JS, Harrison M, Zanko A, Abramson RK, Russ AL, Knowlton B, Djoussé L, Mysore JS, Tariot S, Gusella MF, Wheeler VC, Atwood LD, Cupples LA, Saint-Hilaire M, Cha JH, Hersch SM, Koroshetz WJ, Gusella JF, MacDonald ME, Myers RH. A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study. Am J Hum Genet. 2003 Sep; 73(3):682-7.
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  84. Djoussé L, Knowlton B, Hayden M, Almqvist EW, Brinkman R, Ross C, Margolis R, Rosenblatt A, Durr A, Dode C, Morrison PJ, Novelletto A, Frontali M, Trent RJ, McCusker E, Gómez-Tortosa E, Mayo D, Jones R, Zanko A, Nance M, Abramson R, Suchowersky O, Paulsen J, Harrison M, Yang Q, Cupples LA, Gusella JF, MacDonald ME, Myers RH. Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease. Am J Med Genet A. 2003 Jun 15; 119A(3):279-82.
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  85. Reid SJ, Rees MI, van Roon-Mom WM, Jones AL, MacDonald ME, Sutherland G, During MJ, Faull RL, Owen MJ, Dragunow M, Snell RG. Molecular investigation of TBP allele length: a SCA17 cellular model and population study. Neurobiol Dis. 2003 Jun; 13(1):37-45.
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  86. Teixeira CA, Espinola J, Huo L, Kohlschütter J, Persaud Sawin DA, Minassian B, Bessa CJ, Guimarães A, Stephan DA, Sá Miranda MC, MacDonald ME, Ribeiro MG, Boustany RM. Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis. Hum Mutat. 2003 May; 21(5):502-8.
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  87. Gines S, Seong IS, Fossale E, Ivanova E, Trettel F, Gusella JF, Wheeler VC, Persichetti F, MacDonald ME. Specific progressive cAMP reduction implicates energy deficit in presymptomatic Huntington's disease knock-in mice. Hum Mol Genet. 2003 Mar 1; 12(5):497-508.
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  88. Wheeler VC, Lebel LA, Vrbanac V, Teed A, te Riele H, MacDonald ME. Mismatch repair gene Msh2 modifies the timing of early disease in Hdh(Q111) striatum. Hum Mol Genet. 2003 Feb 1; 12(3):273-81.
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  89. Snider BJ, Moss JL, Revilla FJ, Lee CS, Wheeler VC, Macdonald ME, Choi DW. Neocortical neurons cultured from mice with expanded CAG repeats in the huntingtin gene: unaltered vulnerability to excitotoxins and other insults. Neuroscience. 2003; 120(3):617-25.
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  90. MacDonald ME, Gines S, Gusella JF, Wheeler VC. Huntington's disease. Neuromolecular Med. 2003; 4(1-2):7-20.
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  91. van Roon-Mom WM, Reid SJ, Jones AL, MacDonald ME, Faull RL, Snell RG. Insoluble TATA-binding protein accumulation in Huntington's disease cortex. Brain Res Mol Brain Res. 2002 Dec 30; 109(1-2):1-10.
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  92. Cotman SL, Vrbanac V, Lebel LA, Lee RL, Johnson KA, Donahue LR, Teed AM, Antonellis K, Bronson RT, Lerner TJ, MacDonald ME. Cln3(Deltaex7/8) knock-in mice with the common JNCL mutation exhibit progressive neurologic disease that begins before birth. Hum Mol Genet. 2002 Oct 15; 11(22):2709-21.
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  93. Namura S, Hirt L, Wheeler VC, McGinnis KM, Hilditch-Maguire P, Moskowitz MA, MacDonald ME, Persichetti F. The HD mutation does not alter neuronal death in the striatum of Hdh(Q92) knock-in mice after mild focal ischemia. Neurobiol Dis. 2002 Oct; 11(1):147-54.
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  94. Fossale E, Wheeler VC, Vrbanac V, Lebel LA, Teed A, Mysore JS, Gusella JF, MacDonald ME, Persichetti F. Identification of a presymptomatic molecular phenotype in Hdh CAG knock-in mice. Hum Mol Genet. 2002 Sep 15; 11(19):2233-41.
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  95. Breedveld GJ, Percy AK, MacDonald ME, de Vries BB, Yapijakis C, Dure LS, Ippel EF, Sandkuijl LA, Heutink P, Arts WF. Clinical and genetic heterogeneity in benign hereditary chorea. Neurology. 2002 Aug 27; 59(4):579-84.
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  96. Breedveld GJ, van Dongen JW, Danesino C, Guala A, Percy AK, Dure LS, Harper P, Lazarou LP, van der Linde H, Joosse M, Grüters A, MacDonald ME, de Vries BB, Arts WF, Oostra BA, Krude H, Heutink P. Mutations in TITF-1 are associated with benign hereditary chorea. Hum Mol Genet. 2002 Apr 15; 11(8):971-9.
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  97. DeStefano AL, Lew MF, Golbe LI, Mark MH, Lazzarini AM, Guttman M, Montgomery E, Waters CH, Singer C, Watts RL, Currie LJ, Wooten GF, Maher NE, Wilk JB, Sullivan KM, Slater KM, Saint-Hilaire MH, Feldman RG, Suchowersky O, Lafontaine AL, Labelle N, Growdon JH, Vieregge P, Pramstaller PP, Klein C, Hubble JP, Reider CR, Stacy M, MacDonald ME, Gusella JF, Myers RH. PARK3 influences age at onset in Parkinson disease: a genome scan in the GenePD study. Am J Hum Genet. 2002 May; 70(5):1089-95.
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  98. Wheeler VC, Gutekunst CA, Vrbanac V, Lebel LA, Schilling G, Hersch S, Friedlander RM, Gusella JF, Vonsattel JP, Borchelt DR, MacDonald ME. Early phenotypes that presage late-onset neurodegenerative disease allow testing of modifiers in Hdh CAG knock-in mice. Hum Mol Genet. 2002 Mar 15; 11(6):633-40.
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  99. Richfield EK, Vonsattel JP, MacDonald ME, Sun Z, Deng YP, Reiner A. Selective loss of striatal preprotachykinin neurons in a phenocopy of Huntington's disease. Mov Disord. 2002 Mar; 17(2):327-32.
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  100. Gusella J, MacDonald M. No post-genetics era in human disease research. Nat Rev Genet. 2002 Jan; 3(1):72-9.
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  101. Hsiao LL, Dangond F, Yoshida T, Hong R, Jensen RV, Misra J, Dillon W, Lee KF, Clark KE, Haverty P, Weng Z, Mutter GL, Frosch MP, MacDonald ME, Milford EL, Crum CP, Bueno R, Pratt RE, Mahadevappa M, Warrington JA, Stephanopoulos G, Stephanopoulos G, Gullans SR. A compendium of gene expression in normal human tissues. Physiol Genomics. 2001 Dec 21; 7(2):97-104.
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  102. Gao H, Boustany RM, Espinola JA, Cotman SL, Srinidhi L, Antonellis KA, Gillis T, Qin X, Liu S, Donahue LR, Bronson RT, Faust JR, Stout D, Haines JL, Lerner TJ, MacDonald ME. Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse. Am J Hum Genet. 2002 Feb; 70(2):324-35.
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  103. Brummelkamp TR, Kortlever RM, Lingbeek M, Trettel F, MacDonald ME, van Lohuizen M, Bernards R. TBX-3, the gene mutated in Ulnar-Mammary Syndrome, is a negative regulator of p19ARF and inhibits senescence. J Biol Chem. 2002 Feb 22; 277(8):6567-72.
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  104. Auerbach W, Hurlbert MS, Hilditch-Maguire P, Wadghiri YZ, Wheeler VC, Cohen SI, Joyner AL, MacDonald ME, Turnbull DH. The HD mutation causes progressive lethal neurological disease in mice expressing reduced levels of huntingtin. Hum Mol Genet. 2001 Oct 15; 10(22):2515-23.
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  105. DeStefano AL, Golbe LI, Mark MH, Lazzarini AM, Maher NE, Saint-Hilaire M, Feldman RG, Guttman M, Watts RL, Suchowersky O, Lafontaine AL, Labelle N, Lew MF, Waters CH, Growdon JH, Singer C, Currie LJ, Wooten GF, Vieregge P, Pramstaller PP, Klein C, Hubble JP, Stacy M, Montgomery E, MacDonald ME, Gusella JF, Myers RH. Genome-wide scan for Parkinson's disease: the GenePD Study. Neurology. 2001 Sep 25; 57(6):1124-6.
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  106. Zuccato C, Ciammola A, Rigamonti D, Leavitt BR, Goffredo D, Conti L, MacDonald ME, Friedlander RM, Silani V, Hayden MR, Timmusk T, Sipione S, Cattaneo E. Loss of huntingtin-mediated BDNF gene transcription in Huntington's disease. Science. 2001 Jul 20; 293(5529):493-8.
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  107. Chun W, Lesort M, Tucholski J, Faber PW, MacDonald ME, Ross CA, Johnson GV. Tissue transglutaminase selectively modifies proteins associated with truncated mutant huntingtin in intact cells. Neurobiol Dis. 2001 Jun; 8(3):391-404.
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  108. MacDonald ME, Passani L, Hilditch-Maguire P. Huntingtin associated proteins: potential partners in the pathogenesis of Huntington's disease. Molecular Mechanisms of Neurodegenerative Diseases (Chesselet MF, ed.). 2001.
  109. Gómez-Tortosa E, MacDonald ME, Friend JC, Taylor SA, Weiler LJ, Cupples LA, Srinidhi J, Gusella JF, Bird ED, Vonsattel JP, Myers RH. Quantitative neuropathological changes in presymptomatic Huntington's disease. Ann Neurol. 2001 Jan; 49(1):29-34.
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  110. Walker R, Peach HG, MacDonald M, Donald K. The establishment of an industry-based education program in public health. Aust N Z J Public Health. 2000 Dec; 24(6):627-9.
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  111. Trettel F, Rigamonti D, Hilditch-Maguire P, Wheeler VC, Sharp AH, Persichetti F, Cattaneo E, MacDonald ME. Dominant phenotypes produced by the HD mutation in STHdh(Q111) striatal cells. Hum Mol Genet. 2000 Nov 22; 9(19):2799-809.
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  112. Hilditch-Maguire P, Trettel F, Passani LA, Auerbach A, Persichetti F, MacDonald ME. Huntingtin: an iron-regulated protein essential for normal nuclear and perinuclear organelles. Hum Mol Genet. 2000 Nov 22; 9(19):2789-97.
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  113. Gusella JF, MacDonald ME. Molecular genetics: unmasking polyglutamine triggers in neurodegenerative disease. Nat Rev Neurosci. 2000 Nov; 1(2):109-15.
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  114. Passani LA, Bedford MT, Faber PW, McGinnis KM, Sharp AH, Gusella JF, Vonsattel JP, MacDonald ME. Huntingtin's WW domain partners in Huntington's disease post-mortem brain fulfill genetic criteria for direct involvement in Huntington's disease pathogenesis. Hum Mol Genet. 2000 Sep 1; 9(14):2175-82.
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  115. Plant MR, MacDonald ME, Grad LI, Ritchie SJ, Richman JM. Locally released retinoic acid repatterns the first branchial arch cartilages in vivo. Dev Biol. 2000 Jun 1; 222(1):12-26.
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  116. Clark P, Hooper C, MacDonald M. Haemophilia A in a litter of Siberian huskies. N Z Vet J. 2000 Apr; 48(2):60-2.
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  117. Wheeler VC, White JK, Gutekunst CA, Vrbanac V, Weaver M, Li XJ, Li SH, Yi H, Vonsattel JP, Gusella JF, Hersch S, Auerbach W, Joyner AL, MacDonald ME. Long glutamine tracts cause nuclear localization of a novel form of huntingtin in medium spiny striatal neurons in HdhQ92 and HdhQ111 knock-in mice. Hum Mol Genet. 2000 Mar 1; 9(4):503-13.
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  118. MacDonald ME and Wheeler VC. Huntington's disease pathogenesis: insights from HD mouse models. Neuroscience News. 2000; 3:38-44.
  119. MacDonald ME, Vonsattel JP, Shrinidhi J, Couropmitree NN, Cupples LA, Bird ED, Gusella JF, Myers RH. Evidence for the GluR6 gene associated with younger onset age of Huntington's disease. Neurology. 1999 Oct 12; 53(6):1330-2.
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  120. Persichetti F, Trettel F, Huang CC, Fraefel C, Timmers HT, Gusella JF, MacDonald ME. Mutant huntingtin forms in vivo complexes with distinct context-dependent conformations of the polyglutamine segment. Neurobiol Dis. 1999 Oct; 6(5):364-75.
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  121. Upadhyaya M, MacDonald M, Ravine D. Prenatal diagnosis for facioscapulohumeral muscular dystrophy (FSHD). Prenat Diagn. 1999 Oct; 19(10):959-65.
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  122. MacDonald ME. Gadzooks! Nat Genet. 1999 Sep; 23(1):10-1.
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  123. Mariani R, Wong S, Mulder LC, Wilkinson DA, Reinhart AL, LaRosa G, Nibbs R, O'Brien TR, Michael NL, Connor RI, Macdonald M, Busch M, Koup RA, Landau NR. CCR2-64I polymorphism is not associated with altered CCR5 expression or coreceptor function. J Virol. 1999 Mar; 73(3):2450-9.
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  124. Leeflang EP, Tavaré S, Marjoram P, Neal CO, Srinidhi J, MacFarlane H, MacDonald ME, Gusella JF, de Young M, Wexler NS, Arnheim N. Analysis of germline mutation spectra at the Huntington's disease locus supports a mitotic mutation mechanism. Hum Mol Genet. 1999 Feb; 8(2):173-83.
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  125. Faber PW, Alter JR, MacDonald ME, Hart AC. Polyglutamine-mediated dysfunction and apoptotic death of a Caenorhabditis elegans sensory neuron. Proc Natl Acad Sci U S A. 1999 Jan 5; 96(1):179-84.
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  126. Wheeler VC, Auerbach W, White JK, Srinidhi J, Auerbach A, Ryan A, Duyao MP, Vrbanac V, Weaver M, Gusella JF, Joyner AL, MacDonald ME. Length-dependent gametic CAG repeat instability in the Huntington's disease knock-in mouse. Hum Mol Genet. 1999 Jan; 8(1):115-22.
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  127. Faber PW, Barnes GT, Srinidhi J, Chen J, Gusella JF, MacDonald ME. Huntingtin interacts with a family of WW domain proteins. Hum Mol Genet. 1998 Sep; 7(9):1463-74.
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  128. Jackson GR, Salecker I, Dong X, Yao X, Arnheim N, Faber PW, MacDonald ME, Zipursky SL. Polyglutamine-expanded human huntingtin transgenes induce degeneration of Drosophila photoreceptor neurons. Neuron. 1998 Sep; 21(3):633-42.
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  129. Fenner MH, Parrish JE, Boyd Y, Reed V, MacDonald M, Nelson DL, Isselbacher KJ, Shioda T. MSG1 (melanocyte-specific gene 1): mapping to chromosome Xq13.1, genomic organization, and promoter analysis. Genomics. 1998 Aug 1; 51(3):401-7.
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  130. Huang CC, Faber PW, Persichetti F, Mittal V, Vonsattel JP, MacDonald ME, Gusella JF. Amyloid formation by mutant huntingtin: threshold, progressivity and recruitment of normal polyglutamine proteins. Somat Cell Mol Genet. 1998 Jul; 24(4):217-33.
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  131. Gusella JF, MacDonald ME. Huntingtin: a single bait hooks many species. Curr Opin Neurobiol. 1998 Jun; 8(3):425-30.
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  132. Jänne PA, Suchy SF, Bernard D, MacDonald M, Crawley J, Grinberg A, Wynshaw-Boris A, Westphal H, Nussbaum RL. Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice. J Clin Invest. 1998 May 15; 101(10):2042-53.
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  133. Jenkins BG, Rosas HD, Chen YC, Makabe T, Myers R, MacDonald M, Rosen BR, Beal MF, Koroshetz WJ. 1H NMR spectroscopy studies of Huntington's disease: correlations with CAG repeat numbers. Neurology. 1998 May; 50(5):1357-65.
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  134. Syllabus: Molecular Genetics and Disease Mechanisms. 1998.
  135. MacDonald ME. Huntington’s disease. Principles of Molecular Medicine (Jameson JL ed.). 1998.
  136. Myers RH, Marans KS, MacDonald ME. . Huntington's Disease. Genetic Instabilities and Hereditary Neurological Diseases (Wells R, Warren S, Sarmiento M, eds). 1998.
  137. MacDonald ME. Molecular genetics of Huntington's disease. Results Probl Cell Differ. 1998; 21:47-75.
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  138. White JK, Auerbach W, Duyao MP, Vonsattel JP, Gusella JF, Joyner AL, MacDonald ME. Huntingtin is required for neurogenesis and is not impaired by the Huntington's disease CAG expansion. Nat Genet. 1997 Dec; 17(4):404-10.
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  139. Pribill I, Barnes GT, Chen J, Church D, Buckler A, Baxendale S, Bates GP, Lehrach H, Gusella MJ, Duyao MP, Ambrose CM, Gusella JF, MacDonald ME. Exon trapping and sequence-based methods of gene finding in transcript mapping of human 4p16.3. Somat Cell Mol Genet. 1997 Nov; 23(6):413-27.
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  140. Fang YY, Bain S, Haan EA, Eyre HJ, MacDonald M, Wright TJ, Altherr MR, Riess O, Sutherland G, Callen DF. High resolution characterization of an interstitial deletion of less than 1.9 Mb at 4p16.3 associated with Wolf-Hirschhorn syndrome. Am J Med Genet. 1997 Sep 5; 71(4):453-7.
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  141. Priller J, Scherzer CR, Faber PW, MacDonald ME, Young AB. Frataxin gene of Friedreich's ataxia is targeted to mitochondria. Ann Neurol. 1997 Aug; 42(2):265-9.
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  142. Tamminga CA, Schwarcz R, MacDonald ME. Images in neuroscience. Clinical genetics, I. Huntington's disease: from disease to gene. Am J Psychiatry. 1997 Jun; 154(6):725.
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  143. Jones RM, MacDonald ME, Branda J, Altherr MR, Louis DN, Schmidt EV. Assignment of the human gene encoding eukaryotic initiation factor 4E (EIF4E) to the region q21-25 on chromosome 4. Somat Cell Mol Genet. 1997 May; 23(3):221-3.
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  144. Ferrante RJ, Gutekunst CA, Persichetti F, McNeil SM, Kowall NW, Gusella JF, MacDonald ME, Beal MF, Hersch SM. Heterogeneous topographic and cellular distribution of huntingtin expression in the normal human neostriatum. J Neurosci. 1997 May 1; 17(9):3052-63.
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  145. McNeil SM, Novelletto A, Srinidhi J, Barnes G, Kornbluth I, Altherr MR, Wasmuth JJ, Gusella JF, MacDonald ME, Myers RH. Reduced penetrance of the Huntington's disease mutation. Hum Mol Genet. 1997 May; 6(5):775-9.
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  146. Penney JB, Vonsattel JP, MacDonald ME, Gusella JF, Myers RH. CAG repeat number governs the development rate of pathology in Huntington's disease. Ann Neurol. 1997 May; 41(5):689-92.
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  147. Gusella JF, Persichetti F, MacDonald ME. The genetic defect causing Huntington's disease: repeated in other contexts? Mol Med. 1997 Apr; 3(4):238-46.
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  148. Kosinski CM, Cha JH, Young AB, Persichetti F, MacDonald M, Gusella JF, Penney JB, Standaert DG. Huntingtin immunoreactivity in the rat neostriatum: differential accumulation in projection and interneurons. Exp Neurol. 1997 Apr; 144(2):239-47.
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  149. Speert DP, Wong SY, Macdonald M, Sargeant R. Modulation of macrophage function for defence of the lung against Pseudomonas aeruginosa. Behring Inst Mitt. 1997 Feb; (98):274-82.
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  150. Gusella JF, Persichetti F, Vonsattel JP, MacDonald ME. The genetic defect causing Huntington’s disease neuropathology. J Neuropath and Exp Neurol. 1997.
  151. Gusella JF, Persichetti F., MacDonald ME. The genetic defect causing Huntington’s disease: repeated in other contexts?. Molecular Medicine. 1997; 3:238-246.
  152. Tamminga CA, Schwarcz R, MacDonald ME. Huntington's disease: from disease to gene. Am J Psychiatry. 1997; 154:725.
  153. Syllabus: Human Genetics in Clinical Investigation. 1997.
  154. Gusella JF, MacDonald ME. Genetics and Molecular Biology of Huntington’s Disease. Movement Disorders Neurologic Principles and Practice (Watts RL and Koller WC eds). 1997.
  155. Rubio A, Steinberg K, Figlewicz DA, MacDonald ME, Greenamyre T, Hamill R, Shoulson I, Powers JM. Coexistence of Huntington's disease and familial amyotrophic lateral sclerosis: case presentation. Acta Neuropathol. 1996 Oct; 92(4):421-7.
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  156. MacDonald ME, Gusella JF. Huntington's disease: translating a CAG repeat into a pathogenic mechanism. Curr Opin Neurobiol. 1996 Oct; 6(5):638-43.
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  157. Liu R, Paxton WA, Choe S, Ceradini D, Martin SR, Horuk R, MacDonald ME, Stuhlmann H, Koup RA, Landau NR. Homozygous defect in HIV-1 coreceptor accounts for resistance of some multiply-exposed individuals to HIV-1 infection. Cell. 1996 Aug 9; 86(3):367-77.
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  158. Premont RT, Macrae AD, Stoffel RH, Chung N, Pitcher JA, Ambrose C, Inglese J, MacDonald ME, Lefkowitz RJ. Characterization of the G protein-coupled receptor kinase GRK4. Identification of four splice variants. J Biol Chem. 1996 Mar 15; 271(11):6403-10.
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  159. Gusella JF, MacDonald ME. Trinucleotide instability: a repeating theme in human inherited disorders. Annu Rev Med. 1996; 47:201-9.
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  160. Gusella JF, McNeil S, Persichetti F, Srinidhi J, Novelletto A, Bird E, Faber P, Vonsattel J-P, Myers RH, MacDonald ME. Huntington’s Disease. Cold Spring Harbor Symposia on Quantitative Biology. 1996; 61:615-626.
  161. MacDonald ME, Gusella JF. Huntington’s disease: translating a CAG repeat into a pathogenic mechanism. Cur Opin Neurobiol. 1996; 6:638-650.
  162. Gusella JF, McNeil S, Persichetti F, Srinidhi J, Novelletto A, Bird E, Faber P, Vonsattel JP, Myers RH, MacDonald ME. Huntington's disease. Cold Spring Harb Symp Quant Biol. 1996; 61:615-26.
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  163. MacDonald ME, Duyao M, Calzonetti T, Auerbach A, Ryan A, Barnes G, White JK, Auerbach W, Vonsattel JP, Gusella JF, Joyner AL. Targeted inactivation of the mouse Huntington's disease gene homolog Hdh. Cold Spring Harb Symp Quant Biol. 1996; 61:627-38.
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  164. MacDonald ME. Triplet repeats and polyglutamine tracts. Banbury Center Report. 1996.
  165. Persichetti F, Carlee L, Faber PW, McNeil SM, Ambrose CM, Srinidhi J, Anderson M, Barnes GT, Gusella JF, MacDonald ME. Differential expression of normal and mutant Huntington's disease gene alleles. Neurobiol Dis. 1996; 3(3):183-90.
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  166. Syllabus: Genetic Analysis Methods For Medical Researchers. 1996.
  167. Gusella JF, MacDonald ME. Huntington’s Disease (HD). Encyclopedia of Neuroscience. 1996; 128 .
  168. Gusella JF, MacDonald ME. Huntington’s Disease. Encyclopedia of Molecular Biology and Molecular Medicine, Myers R, ed. 1996; 3:246-252 .
  169. Gusella JF, MacDonald ME. Huntington's disease: CAG genetics expands neurobiology. Curr Opin Neurobiol. 1995 Oct; 5(5):656-62.
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  170. Leeflang EP, Zhang L, Tavaré S, Hubert R, Srinidhi J, MacDonald ME, Myers RH, de Young M, Wexler NS, Gusella JF, et al. Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: quantification of the mutation frequency spectrum. Hum Mol Genet. 1995 Sep; 4(9):1519-26.
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  171. Gusella JF, MacDonald ME. Huntington's disease. Semin Cell Biol. 1995 Feb; 6(1):21-8.
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  172. Landwehrmeyer GB, McNeil SM, Dure LS IV, Ge P, Aizawa H, Huang Q, Ambrose CM, Duyao MP, Bird ED, Bonilla E, de Young M, Avila-Gonzales AJ, Wexler NS, DiFiglia M, Gusella JF, MacDonald ME, Penney PB, Young AB, Vonsattel J-P. Huntington's disease gene: regional and cellular expression in brain of normal and affected individuals. Ann Neurol. 1995; 237:218-230.
  173. Duyao MP., Auerbach A, Ryan A, Persichetti F., Barnes GT, McNeil SM, Ge P, Vonsattel J-P, Gusella JF, Joyner AL, MacDonald ME. Inactivation of the mouse Huntington's disease gene homolog Hdh. Science. 1995; 265:407-410.
  174. Vonsattel JP, Aizawa H, Ge P, DiFiglia M, McKee AC, MacDonald M, Gusella JF, Landwehrmeyer GB, Bird ED, Richardson EP, et al. An improved approach to prepare human brains for research. J Neuropathol Exp Neurol. 1995 Jan; 54(1):42-56.
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  175. Persichetti F, Srinidhi J, Kanaley L, Ge P, Myers RH, D'Arrigo K, Barnes GT, MacDonald ME, Vonsattel JP, Gusella JF, et al. Huntington's disease CAG trinucleotide repeats in pathologically confirmed post-mortem brains. Neurobiol Dis. 1994 Dec; 1(3):159-66.
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  176. Kieburtz K, MacDonald M, Shih C, Feigin A, Steinberg K, Bordwell K, Zimmerman C, Srinidhi J, Sotack J, Gusella J, et al. Trinucleotide repeat length and progression of illness in Huntington's disease. J Med Genet. 1994 Nov; 31(11):872-4.
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  177. van Beek I, Buckley R, Stewart M, MacDonald M, Kaldor J. Risk factors for hepatitis C virus infection among injecting drug users in Sydney. Genitourin Med. 1994 Oct; 70(5):321-4.
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  178. MacDonald M, Hassold T, Harvey J, Wang LH, Morton NE, Jacobs P. The origin of 47,XXY and 47,XXX aneuploidy: heterogeneous mechanisms and role of aberrant recombination. Hum Mol Genet. 1994 Aug; 3(8):1365-71.
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  179. Hubert R, MacDonald M, Gusella J, Arnheim N. High resolution localization of recombination hot spots using sperm typing. Nat Genet. 1994 Jul; 7(3):420-4.
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  180. Grosson CL, MacDonald ME, Duyao MP, Ambrose CM, Roffler-Tarlov S, Gusella JF. Synteny conservation of the Huntington's disease gene and surrounding loci on mouse Chromosome 5. Mamm Genome. 1994 Jul; 5(7):424-8.
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  181. Novelletto A, Persichetti F, Sabbadini G, Mandich P, Bellone E, Ajmar F, Squitieri F, Campanella G, Bozza A, MacDonald ME, et al. Polymorphism analysis of the huntingtin gene in Italian families affected with Huntington disease. Hum Mol Genet. 1994 Jul; 3(7):1129-32.
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  182. MacDonald ME, Ambrose CM, Duyao MP, Gusella JF. Huntingtin DNA, Protein and Uses Thereof. 1994.
  183. Gusella JF, MacDonald ME. Huntington's disease and repeating trinucleotides. N Engl J Med. 1994 May 19; 330(20):1450-1.
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  184. MacCollin M, Peterfreund R, MacDonald M, Fink JS, Gusella J. Mapping of a human A2a adenosine receptor (ADORA2) to chromosome 22. Genomics. 1994 Mar 15; 20(2):332-3.
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  185. Barnes GT, Duyao MP, Ambrose CM, McNeil S, Persichetti F, Srinidhi J, Gusella JF, MacDonald ME. Mouse Huntington's disease gene homolog (Hdh). Somat Cell Mol Genet. 1994 Mar; 20(2):87-97.
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  186. Hummerich H, Baxendale S, Mott R, Kirby SF, MacDonald ME, Gusella J, Lehrach H, Bates GP. Distribution of trinucleotide repeat sequences across a 2 Mbp region containing the Huntington's disease gene. Hum Mol Genet. 1994 Jan; 3(1):73-8.
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  187. Novelletto A, Persichetti F, Sabbadini G, Mandich P, Bellone E, Ajmar F, Pergola M, Del Senno L, MacDonald ME, Gusella JF, et al. Analysis of the trinucleotide repeat expansion in Italian families affected with Huntington disease. Hum Mol Genet. 1994 Jan; 3(1):93-8.
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  188. Dure LS IV, Landwehrmeyer GB, Golden J, McNeil SM, Ge P, Aizawa H, Huang Q, Ambrose CM, Duyao MP, Bird ED, DiFiglia M, Gusella JF, MacDonald ME, Penney JB, Young AB, Vonsattel J-P. IT15 expression in fetal human brain. Brain Research. 1994; 659:33-41.
  189. Traystman MD, Schulte NA, MacDonald M, Anderson JR, Sanger WG. Mutation analysis for cystic fibrosis to determine carrier status in 167 sperm donors from the Nebraska Genetic Semen Bank. Hum Mutat. 1994; 4(4):271-5.
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  190. Ambrose CM, Duyao MP, Barnes G, Bates GP, Lin CS, Srinidhi J, Baxendale S, Hummerich H, Lehrach H, Altherr M, Wasmuth JJ, Buckler A, Church D, Housman D, Berks M, Micklem G, Durbin R, Dodge A, Read A, Gusella JF, MacDonald ME. Structure and expression of the Huntington's disease gene: Evidence against simple inactivation due to an expanded CAG repeat. Somat Cell Molec Genet. 1994; 20:27-38.
  191. Persichetti F, Ambrose CM, Ge P, McNeil SM, Srinidhi J, Anderson M, Jenkins B, Barnes GT, Duyao MP, Kanaley L, Wexler NS, Myers RH, Bird ED, Vonsattel J-P, MacDonald ME, Gusella JF. Normal and expanded Huntington's disease gene alleles produce distinguishable proteins due to translation across the CAG repeat. Molec Med. 1994; 1:374-383.
  192. MacDonald ME, Barnes G, Srinidhi J, Duyao MP, Ambrose CM, Myers RH, Gray J, Conneally PM, Young A, Penney J, et al. Gametic but not somatic instability of CAG repeat length in Huntington's disease. J Med Genet. 1993 Dec; 30(12):982-6.
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  193. Myers RH, MacDonald ME, Gusella JF. Discrepancy resolved. Nat Genet. 1993 Nov; 5(3):215.
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  194. Gusella JF, MacDonald ME, Ambrose CM, Duyao MP. Molecular genetics of Huntington's disease. Arch Neurol. 1993 Nov; 50(11):1157-63.
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  195. Myers RH, MacDonald ME, Koroshetz WJ, Duyao MP, Ambrose CM, Taylor SA, Barnes G, Srinidhi J, Lin CS, Whaley WL, et al. De novo expansion of a (CAG)n repeat in sporadic Huntington's disease. Nat Genet. 1993 Oct; 5(2):168-73.
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  196. Snell RG, MacMillan JC, Cheadle JP, Fenton I, Lazarou LP, Davies P, MacDonald ME, Gusella JF, Harper PS, Shaw DJ. Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease. Nat Genet. 1993 Aug; 4(4):393-7.
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  197. Baxendale S, MacDonald ME, Mott R, Francis F, Lin C, Kirby SF, James M, Zehetner G, Hummerich H, Valdes J, et al. A cosmid contig and high resolution restriction map of the 2 megabase region containing the Huntington's disease gene. Nat Genet. 1993 Jun; 4(2):181-6.
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  198. Tagle DA, Blanchard-McQuate KL, Valdes J, Castilla L, MacDonald ME, Gusella JF, Collins FS. Dinucleotide repeat polymorphism in the Huntington's disease region at the D4S182 locus. Hum Mol Genet. 1993 Apr; 2(4):489.
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  199. Wyandt HE, Milunsky J, Lerner T, Gusella JF, Hou A, MacDonald M, Adekunle S, Milunsky A. Characterization of a duplication in the terminal band of 4p by molecular cytogenetics. Am J Med Genet. 1993 Apr 1; 46(1):72-6.
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  200. Snell RG, Doucette-Stamm LA, Gillespie KM, Taylor SA, Riba L, Bates GP, Altherr MR, MacDonald ME, Gusella JF, Wasmuth JJ, et al. The isolation of cDNAs within the Huntington disease region by hybridisation of yeast artificial chromosomes to a cDNA library. Hum Mol Genet. 1993 Mar; 2(3):305-9.
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  201. Duyao MP, MacDonald ME, Gusella JF. A Novel Transport Protein Gene from the Huntington's Disease Region. 1993.
  202. Locke PA, MacDonald ME, Srinidhi J, Gilliam TC, Tanzi RE, Conneally PM, Wexler NS, Haines JL, Gusella JF. A genetic linkage map of the chromosome 4 short arm. Somat Cell Mol Genet. 1993 Jan; 19(1):95-101.
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  203. MacDonald ME, Ambrose CM, Duyao MP, Gusella JF. Capturing a CAGey Killer. Genome Analysis. Genome Rearrangement and Instability. 1993; 7:25-41.
  204. Trofatter JA, MacCollin MM, Rutter JL, Murrell JR, Duyao MP, Parry DM, Eldridge R, Kley N, Menon AG, Pulaski K, Haase VH, Ambrose CM, Munroe D, Bove C, Haines JL, Martuza RL, MacDonald ME, Seizinger BR, Short PM, Buckler AJ, Gusella JF. A novel moesin-, ezrin-, radixin-like gene is a candidate for the Neurofibromatosis 2 tumor suppressor. Cell. 1993; 72:791-800.
  205. The Huntington's Disease Collaborative Research Group: Group 1; MacDonald ME, Ambrose CM, Duyao MP, Myers RH, Lin C, Srinidhi H, Barnes G, Taylor SAM, James M, Groot N, MacFarlane H, Jenkins B, Anderson MA, Wexler NS, Gusella JF. Group 2; Bates GP, Baxendale S, Hummerich H, Kirby S, North M, Youngman S, Mott R, Zehetner G, Sedlacek Z, Poustka A, Frischauf AM, Lehrach H. Group 3. Buckler AJ, Church D, Doucette-Stamm L, O'Donovan MC, Riba-Ramirez L, Shah M, Stanton VP, Strobel SA, Draths KM, Wales JL, Dervan P, Housman DE. Group 4; Altherr M, Shiang R, Thompson L, Fielder T, Wasmuth JJ. Group 5; Tagle D, Valdes J, Elmer L, Allard M, Castilla L, Swaroop M, Blanchard K, Collins FS. Group 6; Snell R, Holloway T, Gillespie K, Datson N, Shaw D, Harper PS. . A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell. 1993; 72:971-983.
  206. Duyao MP, Ambrose CM, Myers RH, Novelletto A, Persichetti F, Frontali M, Folstein S, Ross C, Franz ML, Abbott M, Gray J, Conneally PM, Young A, Penney J, Hollingsworth Z, Shoulson I, Lazzarini AM, Falek A, Koroshetz W, Sax DS, Bird E, Vonsattel JP, Bonilla E, Alvir J, Bickham Conde J, Cha JH, Dure L, Gomez F, Ramos M, Sanchez-Ramos J, Snodgrass SR, de Young M, Wexler NS, Moscowitz C, Penchaszadeh G, MacFarlane H, Anderson MA, Jenkins B, Srinidhi J, Barnes G, Gusella JF, MacDonald ME. Trinucleotide repeat length instability and age of onset in Huntington's Disease. Nature Genet. 1993; 4:387-392.
  207. Fontanet AL, Johnston DB, Walker AM, Rooney W, Thimasarn K, Sturchler D, Macdonald M, Hours M, Wirth DF. High prevalence of mefloquine-resistant falciparum malaria in eastern Thailand. Bull World Health Organ. 1993; 71(3-4):377-83.
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  208. Gusella JF, MacDonald ME. Hunting for Huntington's disease. Mol Genet Med. 1993; 3:139-58.
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  209. Allitto BA, McClatchey AI, Barnes G, Altherr M, Wasmuth J, Frischauf AM, MacDonald ME, Gusella J. Assay by polymerase chain reaction (PCR) of multi-allele polymorphisms in the Huntington's disease region of chromosome 4. Mol Cell Probes. 1992 Dec; 6(6):513-20.
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  210. Scott HS, Nelson PV, MacDonald ME, Gusella JF, Hopwood JJ, Morris CP. An 86-bp VNTR within IDUA is the basis of the D4S111 polymorphic locus. Genomics. 1992 Dec; 14(4):1118-20.
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  211. MacDonald ME, Gusella JF, Ambrose C. A Novel G Protein Coupled Receptor Kinase. 1992.
  212. Youngman S, Bates GP, Williams S, McClatchey AI, Baxendale S, Sedlacek Z, Altherr M, Wasmuth JJ, MacDonald ME, Gusella JF, et al. The telomeric 60 kb of chromosome arm 4p is homologous to telomeric regions on 13p, 15p, 21p, and 22p. Genomics. 1992 Oct; 14(2):350-6.
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  213. Altherr MR, Plummer S, Bates G, MacDonald M, Taylor S, Lehrach H, Frischauf AM, Gusella JF, Boehnke M, Wasmuth JJ. Radiation hybrid map spanning the Huntington disease gene region of chromosome 4. Genomics. 1992 Aug; 13(4):1040-6.
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  214. Snell RG, Thompson LM, Tagle DA, Holloway TL, Barnes G, Harley HG, Sandkuijl LA, MacDonald ME, Collins FS, Gusella JF, et al. A recombination event that redefines the Huntington disease region. Am J Hum Genet. 1992 Aug; 51(2):357-62.
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  215. Bates GP, Valdes J, Hummerich H, Baxendale S, Le Paslier DL, Monaco AP, Tagle D, MacDonald ME, Altherr M, Ross M, et al. Characterization of a yeast artificial chromosome contig spanning the Huntington's disease gene candidate region. Nat Genet. 1992 Jun; 1(3):180-7.
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  216. Taylor SA, Barnes GT, MacDonald ME, Gusella JF. A dinucleotide repeat polymorphism at the D4S127 locus. Hum Mol Genet. 1992 May; 1(2):142.
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  217. MacDonald ME, Novelletto A, Lin C, Tagle D, Barnes G, Bates G, Taylor S, Allitto B, Altherr M, Myers R, et al. The Huntington's disease candidate region exhibits many different haplotypes. Nat Genet. 1992 May; 1(2):99-103.
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  218. Ambrose C, Cheng S, Fontaine B, Nadeau JH, MacDonald M, Gusella JF. The alpha-subunit of the skeletal muscle sodium channel is encoded proximal to Tk-1 on mouse chromosome 11. Mamm Genome. 1992; 3(3):151-5.
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  219. Ambrose C, James M, Barnes G, Lin C, Bates G, Altherr M, Duyao M, Groot N, Church D, Wasmuth JJ, Lehrach H, Housman D, Buckler A, Gusella JF, MacDonald ME. A novel G protein-coupled receptor kinase cloned from 4p16.3. Hum Mol Genet. 1992; 1:697-703.
  220. Koizumi T, MacDonald M, Búcan M, Hopwood JJ, Morris CP, Scott HS, Gusella JF, Nadeau JH. Linkage, but not gene order, of homologous loci, including alpha-L-iduronidase (Idua), is conserved in the Huntington disease region of the mouse and human genomes. Mamm Genome. 1992; 3(1):23-7.
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  221. Gusella JF, Altherr MR, McClatchey AI, Doucette-Stamm LA, Tagle D, Plummer S, Groot N, Barnes G, Hummerich H, Collins F, Housman DE, Lehrach H, MacDonald ME, Bates GP, Wasmuth JJ. Sequence-tagged sites (STSs) spanning 4p16.3 and the Huntington disease candidate region. Genomics. 1992; 13:75-80.
  222. Taylor SAM, Snell RG, Buckler A, Ambrose C, Duyao M, Church D, Lin CS, Altherr M, Bates GP, Groot N, Barnes G, Shaw DJ, Lehrach H, Wasmuth JJ, Harper PS, Housman DE, MacDonald ME, Gusella JF. Cloning of the a- adducin gene from Huntington's disease candidate region of human chromosome 4 by exon amplification. Nature Genet. 1992; 2:223-227.
  223. Baxendale S, Bates GP, MacDonald ME, Gusella JF, Lehrach H. The direct screening of cosmid libraries with YAC clones. Nucleic Acids Res. 1991 Dec 11; 19(23):6651.
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  224. Lazarou LP, Snell RG, MacDonald ME, Gusella JF, Wasmuth JJ, Shaw DJ. MboI RFLP at the D4S43 (C4H) locus. Nucleic Acids Res. 1991 Oct 11; 19(19):5445.
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  225. MacDonald ME, Lin C, Srinidhi L, Bates G, Altherr M, Whaley WL, Lehrach H, Wasmuth J, Gusella JF. Complex patterns of linkage disequilibrium in the Huntington disease region. Am J Hum Genet. 1991 Oct; 49(4):723-34.
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  226. Horn GT, McClatchey AI, Richards B, MacDonald ME, Gusella JF. Detection by PCR of a VNTR polymorphism at D4S43. Nucleic Acids Res. 1991 Sep 11; 19(17):4772.
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  227. Lin CS, Altherr M, Bates G, Whaley WL, Read AP, Harris R, Lehrach H, Wasmuth JJ, Gusella JF, MacDonald ME. New DNA markers in the Huntington's disease gene candidate region. Somat Cell Mol Genet. 1991 Sep; 17(5):481-8.
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  228. MacDonald ME, Scott HS, Whaley WL, Pohl T, Wasmuth JJ, Lehrach H, Morris CP, Frischauf AM, Hopwood JJ, Gusella JF. Huntington disease-linked locus D4S111 exposed as the alpha-L-iduronidase gene. Somat Cell Mol Genet. 1991 Jul; 17(4):421-5.
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  229. Bates GP, MacDonald ME, Baxendale S, Youngman S, Lin C, Whaley WL, Wasmuth JJ, Gusella JF, Lehrach H. Defined physical limits of the Huntington disease gene candidate region. Am J Hum Genet. 1991 Jul; 49(1):7-16.
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  230. Whaley WL, Bates GP, Novelletto A, Sedlacek Z, Cheng S, Romano D, Ormondroyd E, Allitto B, Lin C, Youngman S, Baxendale S, Bucan M, Altherr M, Wasmuth JJ, Wexler NS, Frontali M, Frischauf AM, Lehrach H, MacDonald ME, Gusella JF. Mapping of cosmid clones in the Huntington's disease region of chromosome 4. Somat Cell Mol Genet. 1991; 17:83-91.
  231. Altherr M, Bengtsson U, Elder FFB, Ledbetter DH, Wasmuth JJ, MacDonald ME, Gusella JF, Greenberg F. Molecular confirmation of Wolf-Hirschhorn syndrome with a subtle translocation of chromosome 4. Am J Hum Genet. 1991; 49:1235-1242.
  232. Allitto BA, MacDonald ME, Bucan M, Richards J, Romano D, Whaley WL, Falcone B, Ianazzi J, Wexler NS, Wasmuth JJ, et al. Increased recombination adjacent to the Huntington disease-linked D4S10 marker. Genomics. 1991 Jan; 9(1):104-12.
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  233. Bates GP, MacDonald ME, Baxendale S, Sedlacek Z, Youngman S, Romano D, Whaley WL, Allitto BA, Poustka A, Gusella JF, et al. A yeast artificial chromosome telomere clone spanning a possible location of the Huntington disease gene. Am J Hum Genet. 1990 Apr; 46(4):762-75.
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  234. Bucan M, Zimmer M, Whaley WL, Poustka A, Youngman S, Allitto BA, Ormondroyd E, Smith B, Pohl TM, MacDonald M, et al. Physical maps of 4p16.3, the area expected to contain the Huntington disease mutation. Genomics. 1990 Jan; 6(1):1-15.
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  235. Youngman S, Sarfarazi M, Bucan M, MacDonald M, Smith B, Zimmer M, Gilliam C, Frischauf AM, Wasmuth JJ, Gusella JF, et al. A new DNA marker (D4S90) is located terminally on the short arm of chromosome 4, close to the Huntington disease gene. Genomics. 1989 Nov; 5(4):802-9.
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  236. Altherr MR, Smith B, MacDonald ME, Hall L, Wasmuth JJ. Isolation of a novel mildly repetitive DNA sequence that is predominantly located at the terminus of the short arm of chromosome 4 near the Huntington disease gene. Genomics. 1989 Oct; 5(3):581-8.
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  237. MacDonald ME, Cheng SV, Zimmer M, Haines JL, Poustka A, Allitto B, Smith B, Whaley WL, Romano DM, Jagadeesh J, et al. Clustering of multiallele DNA markers near the Huntington's disease gene. J Clin Invest. 1989 Sep; 84(3):1013-6.
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  238. MacDonald ME, Haines JL, Zimmer M, Cheng SV, Youngman S, Whaley WL, Wexler N, Bucan M, Allitto BA, Smith B, et al. Recombination events suggest potential sites for the Huntington's disease gene. Neuron. 1989 Aug; 3(2):183-90.
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  239. Cheng SV, Martin GR, Nadeau JH, Haines JL, Bucan M, Kozak CA, MacDonald ME, Lockyer JL, Ledley FD, Woo SL, et al. Synteny on mouse chromosome 5 of homologs for human DNA loci linked to the Huntington disease gene. Genomics. 1989 Apr; 4(3):419-26.
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  240. Mellentin JD, Murre C, Donlon TA, McCaw PS, Smith SD, Carroll AJ, MacDonald ME, Baltimore D, Cleary ML. The gene for enhancer binding proteins E12/E47 lies at the t(1;19) breakpoint in acute leukemias. Science. 1989; 246:581-8.
  241. Whaley WL, Michiels F, MacDonald ME, Romano D, Zimmer M, Smith B, Leavitt J, Bucan M, Haines JL, Gilliam TC, et al. Mapping of D4S98/S114/S113 confines the Huntington's defect to a reduced physical region at the telomere of chromosome 4. Nucleic Acids Res. 1988 Dec 23; 16(24):11769-80.
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  242. Pohl TM, Zimmer M, MacDonald ME, Smith B, Bucan M, Poustka A, Volinia S, Searle S, Zehetner G, Wasmuth JJ, et al. Construction of a NotI linking library and isolation of new markers close to the Huntington's disease gene. Nucleic Acids Res. 1988 Oct 11; 16(19):9185-98.
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  243. Youngman S, Shaw DJ, Gusella JF, MacDonald M, Stanbridge EJ, Wasmuth J, Harper PS. A DNA probe, D5 [D4S90] mapping to human chromosome 4p16.3. Nucleic Acids Res. 1988 Feb 25; 16(4):1648.
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  244. Gilliam TC, Bucan M, MacDonald ME, Zimmer M, Haines JL, Cheng SV, Pohl TM, Meyers RH, Whaley WL, Allitto BA, et al. A DNA segment encoding two genes very tightly linked to Huntington's disease. Science. 1987 Nov 13; 238(4829):950-2.
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  245. MacDonald ME, Anderson MA, Gilliam TC, Tranejaerg L, Carpenter NJ, Magenis E, Hayden MR, Healey ST, Bonner TI, Gusella JF. A somatic cell hybrid panel for localizing DNA segments near the Huntington's disease gene. Genomics. 1987 Sep; 1(1):29-34.
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  246. MacDonald ME, Anderson MA, Lockyer JL, Milstien S, Hobbs WJ, Faryniarz AG, Kaufman S, Ledley FD, Woo SL, Gusella JF. Physical and genetic localization of quinonoid dihydropteridine reductase gene (QDPR) on short arm of chromosome 4. Somat Cell Mol Genet. 1987 Sep; 13(5):569-74.
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  247. Gilliam TC, Tanzi RE, Haines JL, Bonner TI, Faryniarz AG, Hobbs WJ, MacDonald ME, Cheng SV, Folstein SE, Conneally PM, et al. Localization of the Huntington's disease gene to a small segment of chromosome 4 flanked by D4S10 and the telomere. Cell. 1987 Aug 14; 50(4):565-71.
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  248. Gilliam TC, Healey ST, MacDonald ME, Stewart GD, Wasmuth JJ, Tanzi RE, Roy JC, Gusella JF. Isolation of polymorphic DNA fragments from human chromosome 4. Nucleic Acids Res. 1987 Feb 25; 15(4):1445-58.
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  249. de Ronde A, MacDonald M, Sol C, ter Schegget J, Wouters E, van Strien A, van der Noordaa J. The early enhancer-promoter of BKV and host range for transformation. Intervirology. 1987; 27(1):38-44.
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  250. de Ronde A, Sol CJ, MacDonald ME, Koot M, ter Schegget J, van Strien A, Wouters E, van der Noordaa J. Two domains within the early coding region of SV40 involved in the transformation of human fibroblasts. Intervirology. 1987; 28(4):221-31.
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  251. MacDonald ME, Anderson MA, Milstein S, Lockyer JL, Hobbs WJ, Faryniarz AG, Kaufman S, Ledley FD, Woo SLC, Gusella JF. Physical and genetic localization of quinoid dihydropteridine reductase (QDPR) on the short arm of chromosome 4. Somatic Cell and Mol Genet. 1987; 13:569-574.
  252. Gilliam TC, Healey ST, MacDonald ME, Wasmuth J, Stewart GD, Roy JC, Gusella JF. Isolation of polymorphic DNA from human chromosome 4. Nucleic Acid Res. 1987; 15:1445-1458.
  253. Gusella JA, Gilliam TC, MacDonald ME, Cheng SV, Tanzi RE. Molecular genetics of human chromosome 4. J Med Genet. 1986 Jun; 23(3):193-9.
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  254. van Zonneveld AJ, Veerman H, MacDonald ME, van Mourik JA, Pannekoek H. Structure and function of human tissue-type plasminogen activator (t-PA). J Cell Biochem. 1986; 32(3):169-78.
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  255. MacDonald ME, van Zonneveld AJ, Pannekoek H. Functional analysis of the human tissue-type plasminogen activator protein: the light chain. Gene. 1986; 42(1):59-67.
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  256. Gusella JF, Gilliam TC, Tanzi RE, MacDonald ME, Cheng SV, Wallace M, Haines J, Conneally PM, Wexler NS. Molecular genetics of Huntington's disease. Cold Spring Harb Symp Quant Biol. 1986; 51 Pt 1:359-64.
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  257. Tabak HF, Osinga K, de Vries E, van der Bliek AM, van der Horst GTL, Groot Koerkamp MJA, van der Horst G, Zwarthoff EC, MacDonald ME. Nuclear Cytoplasmic Interactions. 1983.
  258. Yamamoto Y, Gamble CL, Clark SP, Joyner A, Shibuya T, MacDonald ME, Mager D, Bernstein A, Mak TW. Clonal analysis of early and late stages of erythroleukemia induced by molecular clones of integrated spleen focus-forming virus. Proc Natl Acad Sci U S A. 1981 Nov; 78(11):6893-7.
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  259. Mager D, MacDonald ME, Robson IB, Mak TW, Bernstein A. Clonal analysis of the late stages of erythroleukemia induced by two distinct strains of Friend leukemia virus. Mol Cell Biol. 1981 Aug; 1(8):721-30.
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  260. MacDonald ME, Johnson GR, Bernstein A. Different pseudotypes of Friend spleen focus-forming virus induce polycythemia and erythropoietin-independent colony formation in serum-free medium. Virology. 1981 Apr 15; 110(1):231-6.
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  261. MacDonald ME, Johnson BR, Bernstein A . Friend Leukemia: Different pseudotypes of SFFVp induce polycythemia and erythropoeitin independent colony formation in serum free medium. Virology. 1981; 110:231-236.
  262. Mager D, MacDonald ME, Robson IB, Mak RW, Bernstein A. Clonal analysis of the late stages of erythroleukemia induced by two distinct strains of Friend Leukemia virus. 1981; 1:721-730.
  263. Letarte M, Addis J, MacDonald ME, Bernstein A, Lake P. Demonstration with monoclonal antibody of the glycoprotein nature of Thy-1.2 alloantigen. Can J Biochem. 1980 Oct; 58(10):1026-32.
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  264. MacDonald ME, Reynolds FH, Van de Ven WJ, Stephenson JR, Mak TW, Bernstein A. Anemia- and polycythemia-inducing isolates of Friend spleen focus-forming virus. Biological and molecular evidence for two distinct viral genomes. J Exp Med. 1980 Jun 1; 151(6):1477-92.
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  265. MacDonald ME, Mak TW, Bernstein A. Erythroleukemia induction by replication-competent type C viruses cloned from the anemia- and polycythemia-inducing isolates of Friend leukemia virus. J Exp Med. 1980 Jun 1; 151(6):1493-503.
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  266. Mak TW, Gamble CL, MacDonald ME, Bernstein A. Host control of sequences specific to Friend erythroleukemia virus in normal and leukemic mice. Cold Spring Harb Symp Quant Biol. 1980; 44 Pt 2,:893-9.
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  267. Bernstein A, MacDonald ME, Mager DL, Mak TW. Host and viral genes in Friend leukemia. In vivo and In vitro Erythropoeisis: The Friend System. 1980.
  268. Mager DL, MacDonald ME, Bernstein A. Growth in high-K+ medium induces Friend cell differentiation. Dev Biol. 1979 May; 70(1):268-73.
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  269. Choinski C, Hamer C, Hamm S, Macdonald M, Nelson P. Sound off! Playing with the entry requirement: a game we can't afford. RN. 1978 Dec; 41(12):27-32.
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  270. MacDonald ME, Letarte M, Berstein A. Erythrocyte membrane antigen expression during Friend cell differentiation: analysis of two non-inducible variants. J Cell Physiol. 1978 Sep; 96(3):291-301.
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  271. Bernstein A, Mager DL, MacDonald M, Letarte M, Loritz F, McCutcheon M, Miller RG, Mak TW. The cell surface and the control of Friend-cell differentiation. Cold Spring Harbor Symposia on Quantitative Biology. 1978; 5:249-260.
  272. MacDonald M, McCathie M, Faed MJ, Pringle R, Goodall HB, Beck JS, Tudhope GR, Mitchell PE, Wood AJ, Guthrie W, Shaw D. Proceedings: Gaucher's disease with biclonal gammopathy. J Clin Pathol. 1975 Sep; 28(9):757.
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