Harvard Catalyst Profiles

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Marcy Elizabeth MacDonald, PH.D.

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Research
The research activities and funding listed below are automatically derived from NIH ExPORTER and other sources, which might result in incorrect or missing items. Faculty can login to make corrections and additions.
  1. R01NS033648 (MACDONALD, MARCY) Sep 30, 1995 - Aug 31, 2010
    NIH/NINDS
    The Molecular Basis of NCL
    Role: Principal Investigator
  2. R01NS032765 (MACDONALD, MARCY) May 1, 1994 - Mar 31, 2014
    NIH/NINDS
    Delineating the Huntington's disease mechanism by manipulating the mouse HD
    Role: Principal Investigator
  3. R01NS032099 (MACDONALD, MARCY) Aug 1, 1993 - Jun 30, 2002
    NIH/NINDS
    MOLECULAR BASIS OF JUVENILE NCL
    Role: Principal Investigator
  4. P50NS016367 (GUSELLA, JAMES F) Jul 1, 1980 - Mar 31, 2012
    NIH/NINDS
    Huntington's Disease Center Without Walls
    Role: Co-Principal Investigator
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
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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PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
  1. Murthy V, Tebaldi T, Yoshida T, Erdin S, Calzonetti T, Vijayvargia R, Tripathi T, Kerschbamer E, Seong IS, Quattrone A, Talkowski ME, Gusella JF, Georgopoulos K, MacDonald ME, Biagioli M. Hypomorphic mutation of the mouse Huntington's disease gene orthologue. PLoS Genet. 2019 03; 15(3):e1007765. PMID: 30897080.
    Citations:    
  2. Chao MJ, Kim KH, Shin JW, Lucente D, Wheeler VC, Li H, Roach JC, Hood L, Wexler NS, Jardim LB, Holmans P, Jones L, Orth M, Kwak S, MacDonald ME, Gusella JF, Lee JM. Population-specific genetic modification of Huntington's disease in Venezuela. PLoS Genet. 2018 05; 14(5):e1007274. PMID: 29750799.
    Citations: 1     Fields:    Translation:Humans
  3. Shin B, Jung R, Oh H, Owens GE, Lee H, Kwak S, Lee R, Cotman SL, Lee JM, MacDonald ME, Song JJ, Vijayvargia R, Seong IS. Novel DNA Aptamers that Bind to Mutant Huntingtin and Modify Its Activity. Mol Ther Nucleic Acids. 2018 Jun 01; 11:416-428. PMID: 29858077.
    Citations:    
  4. Kovalenko M, Milnerwood A, Giordano J, St Claire J, Guide JR, Stromberg M, Gillis T, Sapp E, DiFiglia M, MacDonald ME, Carroll JB, Lee JM, Tappan S, Raymond L, Wheeler VC. HttQ111/+ Huntington's Disease Knock-in Mice Exhibit Brain Region-Specific Morphological Changes and Synaptic Dysfunction. J Huntingtons Dis. 2018; 7(1):17-33. PMID: 29480209.
    Citations:    Fields:    
  5. Lee JM, Chao MJ, Harold D, Abu Elneel K, Gillis T, Holmans P, Jones L, Orth M, Myers RH, Kwak S, Wheeler VC, MacDonald ME, Gusella JF. A modifier of Huntington's disease onset at the MLH1 locus. Hum Mol Genet. 2017 10 01; 26(19):3859-3867. PMID: 28934397.
    Citations: 1     Fields:    Translation:HumansAnimalsCells
  6. Chao MJ, Gillis T, Atwal RS, Mysore JS, Arjomand J, Harold D, Holmans P, Jones L, Orth M, Myers RH, Kwak S, Wheeler VC, MacDonald ME, Gusella JF, Lee JM. Haplotype-based stratification of Huntington's disease. Eur J Hum Genet. 2017 11; 25(11):1202-1209. PMID: 28832564.
    Citations: 2     Fields:    Translation:HumansCells
  7. Shin A, Shin B, Shin JW, Kim KH, Atwal RS, Hope JM, Gillis T, Leszyk JD, Shaffer SA, Lee R, Kwak S, MacDonald ME, Gusella JF, Seong IS, Lee JM. Novel allele-specific quantification methods reveal no effects of adult onset CAG repeats on HTT mRNA and protein levels. Hum Mol Genet. 2017 04 01; 26(7):1258-1267. PMID: 28165127.
    Citations:    Fields:    Translation:HumansCells
  8. Cheng C, Fass DM, Folz-Donahue K, MacDonald ME, Haggarty SJ. Highly Expandable Human iPS Cell-Derived Neural Progenitor Cells (NPC) and Neurons for Central Nervous System Disease Modeling and High-Throughput Screening. Curr Protoc Hum Genet. 2017 01 11; 92:21.8.1-21.8.21. PMID: 28075486.
    Citations: 2     Fields:    Translation:HumansCells
  9. Shin JW, Kim KH, Chao MJ, Atwal RS, Gillis T, MacDonald ME, Gusella JF, Lee JM. Permanent inactivation of Huntington's disease mutation by personalized allele-specific CRISPR/Cas9. Hum Mol Genet. 2016 10 15; 25(20):4566-4576. PMID: 28172889.
    Citations: 27     Fields:    Translation:HumansCells
  10. Shin JW, Kim KH, Chao MJ, Atwal RS, Gillis T, MacDonald ME, Gusella JF, Lee JM. Permanent inactivation of Huntington's disease mutation by personalized allele-specific CRISPR/Cas9. Hum Mol Genet. 2016 Sep 15. PMID: 27634650.
    Citations:    
  11. Keum JW, Shin A, Gillis T, Mysore JS, Abu Elneel K, Lucente D, Hadzi T, Holmans P, Jones L, Orth M, Kwak S, MacDonald ME, Gusella JF, Lee JM. The HTT CAG-Expansion Mutation Determines Age at Death but Not Disease Duration in Huntington Disease. Am J Hum Genet. 2016 Feb 04; 98(2):287-98. PMID: 26849111.
    Citations: 14     Fields:    Translation:Humans
  12. Labadorf A, Hoss AG, Lagomarsino V, Latourelle JC, Hadzi TC, Bregu J, MacDonald ME, Gusella JF, Chen JF, Akbarian S, Weng Z, Myers RH. RNA Sequence Analysis of Human Huntington Disease Brain Reveals an Extensive Increase in Inflammatory and Developmental Gene Expression. PLoS One. 2015; 10(12):e0143563. PMID: 26636579.
    Citations: 27     Fields:    Translation:Humans
  13. Lee JM, Kim KH, Shin A, Chao MJ, Abu Elneel K, Gillis T, Mysore JS, Kaye JA, Zahed H, Kratter IH, Daub AC, Finkbeiner S, Li H, Roach JC, Goodman N, Hood L, Myers RH, MacDonald ME, Gusella JF. Sequence-Level Analysis of the Major European Huntington Disease Haplotype. Am J Hum Genet. 2015 Sep 03; 97(3):435-44. PMID: 26320893.
    Citations: 5     Fields:    Translation:HumansCells
  14. Carroll JB, Deik A, Fossale E, Weston RM, Guide JR, Arjomand J, Kwak S, Clish CB, MacDonald ME. HdhQ111 Mice Exhibit Tissue Specific Metabolite Profiles that Include Striatal Lipid Accumulation. PLoS One. 2015; 10(8):e0134465. PMID: 26295712.
    Citations: 1     Fields:    Translation:HumansAnimalsCells
  15. Hoss AG, Labadorf A, Latourelle JC, Kartha VK, Hadzi TC, Gusella JF, MacDonald ME, Chen JF, Akbarian S, Weng Z, Vonsattel JP, Myers RH. miR-10b-5p expression in Huntington's disease brain relates to age of onset and the extent of striatal involvement. BMC Med Genomics. 2015 Mar 01; 8:10. PMID: 25889241.
    Citations: 18     Fields:    Translation:Humans
  16. Ramos EM, Gillis T, Mysore JS, Lee JM, Alonso I, Gusella JF, Smoller JW, Sklar P, MacDonald ME, Perlis RH. Prevalence of Huntington's disease gene CAG trinucleotide repeat alleles in patients with bipolar disorder. Bipolar Disord. 2015 Jun; 17(4):403-8. PMID: 25726852.
    Citations: 2     Fields:    Translation:HumansCells
  17. Ramos EM, Gillis T, Mysore JS, Lee JM, Gögele M, D'Elia Y, Pichler I, Sequeiros J, Pramstaller PP, Gusella JF, MacDonald ME, Alonso I. Haplotype analysis of the 4p16.3 region in Portuguese families with Huntington's disease. Am J Med Genet B Neuropsychiatr Genet. 2015 Mar; 168B(2):135-43. PMID: 25656686.
    Citations: 2     Fields:    Translation:HumansCells
  18. Ramos EM, Kovalenko M, Guide JR, St Claire J, Gillis T, Mysore JS, Sequeiros J, Wheeler VC, Alonso I, MacDonald ME. Chromosome substitution strain assessment of a Huntington's disease modifier locus. Mamm Genome. 2015 Apr; 26(3-4):119-30. PMID: 25645993.
    Citations: 2     Fields:    Translation:HumansAnimalsCells
  19. Biagioli M, Ferrari F, Mendenhall EM, Zhang Y, Erdin S, Vijayvargia R, Vallabh SM, Solomos N, Manavalan P, Ragavendran A, Ozsolak F, Lee JM, Talkowski ME, Gusella JF, Macdonald ME, Park PJ, Seong IS. Htt CAG repeat expansion confers pleiotropic gains of mutant huntingtin function in chromatin regulation. Hum Mol Genet. 2015 May 01; 24(9):2442-57. PMID: 25574027.
    Citations: 13     Fields:    Translation:AnimalsCells
  20. Correia K, Harold D, Kim KH, Holmans P, Jones L, Orth M, Myers RH, Kwak S, Wheeler VC, MacDonald ME, Gusella JF, Lee JM. The Genetic Modifiers of Motor OnsetAge (GeM MOA) Website: Genome-wide Association Analysis for Genetic Modifiers of Huntington's Disease. J Huntingtons Dis. 2015; 4(3):279-84. PMID: 26444025.
    Citations: 5     Fields:    Translation:Humans
  21. Pryor WM, Biagioli M, Shahani N, Swarnkar S, Huang WC, Page DT, MacDonald ME, Subramaniam S. Huntingtin promotes mTORC1 signaling in the pathogenesis of Huntington's disease. Sci Signal. 2014 Oct 28; 7(349):ra103. PMID: 25351248.
    Citations: 12     Fields:    Translation:HumansAnimalsCells
  22. Dietz KN, Di Stefano L, Maher RC, Zhu H, Macdonald ME, Gusella JF, Walker JA. The Drosophila Huntington's disease gene ortholog dhtt influences chromatin regulation during development. Hum Mol Genet. 2015 Jan 15; 24(2):330-45. PMID: 25168387.
    Citations: 5     Fields:    Translation:HumansAnimalsCells
  23. Gusella JF, MacDonald ME, Lee JM. Genetic modifiers of Huntington's disease. Mov Disord. 2014 Sep 15; 29(11):1359-65. PMID: 25154728.
    Citations: 16     Fields:    Translation:HumansCells
  24. Galkina EI, Shin A, Coser KR, Shioda T, Kohane IS, Seong IS, Wheeler VC, Gusella JF, Macdonald ME, Lee JM. HD CAGnome: a search tool for huntingtin CAG repeat length-correlated genes. PLoS One. 2014; 9(4):e95556. PMID: 24751919.
    Citations:    Fields:    Translation:HumansCells
  25. Hoss AG, Kartha VK, Dong X, Latourelle JC, Dumitriu A, Hadzi TC, Macdonald ME, Gusella JF, Akbarian S, Chen JF, Weng Z, Myers RH. MicroRNAs located in the Hox gene clusters are implicated in huntington's disease pathogenesis. PLoS Genet. 2014 Feb; 10(2):e1004188. PMID: 24586208.
    Citations: 27     Fields:    Translation:HumansAnimalsCells
  26. Thompson MN, MacDonald ME, Gusella JF, Myre MA. Huntingtin Supplies a csaA-Independent Function Essential for EDTA-Resistant Homotypic Cell Adhesion in Dictyostelium discoideum. J Huntingtons Dis. 2014; 3(3):261-71. PMID: 25300330.
    Citations: 1     Fields:    Translation:Animals
  27. 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. PMID: 24278347.
    Citations: 14     Fields:    Translation:AnimalsCells
  28. 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. PMID: 23644918.
    Citations: 3     Fields:    Translation:Humans
  29. 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. PMID: 23622250.
    Citations: 332     Fields:    Translation:HumansAnimalsCells
  30. 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. PMID: 23595883.
    Citations: 10     Fields:    Translation:HumansCells
  31. Reid SJ, Patassini S, Handley RR, Rudiger SR, McLaughlan CJ, Osmand A, Jacobsen JC, Morton AJ, Weiss A, Waldvogel HJ, MacDonald ME, Gusella JF, Bawden CS, Faull RL, Snell RG. Further molecular characterisation of the OVT73 transgenic sheep model of Huntington's disease identifies cortical aggregates. J Huntingtons Dis. 2013; 2(3):279-95. PMID: 25062676.
    Citations: 6     Fields:    Translation:HumansAnimalsCells
  32. 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 07; 91(6):1128-34. PMID: 23217328.
    Citations: 26     Fields:    Translation:HumansCells
  33. 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. PMID: 23089356.
    Citations: 16     Fields:    Translation:AnimalsCells
  34. 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. PMID: 23035064.
    Citations: 19     Fields:    Translation:HumansCells
  35. 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. PMID: 22927682.
    Citations:    Fields:    Translation:HumansCells
  36. 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. PMID: 22825315.
    Citations: 10     Fields:    Translation:HumansCells
  37. 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. PMID: 22770980.
    Citations: 20     Fields:    Translation:HumansAnimalsCells
  38. 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 03; 424(3):404-8. PMID: 22771793.
    Citations: 4     Fields:    Translation:HumansCells
  39. 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. PMID: 22748208.
    Citations: 17     Fields:    Translation:HumansAnimalsCells
  40. 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. PMID: 22409360.
    Citations: 3     Fields:    Translation:HumansCells
  41. 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 Mar 04; 44(4):390-7, S1. PMID: 22388000.
    Citations: 76     Fields:    Translation:HumansAnimalsCells
  42. 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 09; 90(3):434-44. PMID: 22387017.
    Citations: 20     Fields:    Translation:HumansCells
  43. 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 06; 78(10):690-5. PMID: 22323755.
    Citations: 79     Fields:    Translation:HumansCells
  44. 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 01; 20(21):4258-67. PMID: 21840924.
    Citations: 14     Fields:    Translation:AnimalsCells
  45. 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. PMID: 21536587.
    Citations: 34     Fields:    Translation:AnimalsCells
  46. 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. PMID: 21552328.
    Citations: 17     Fields:    Translation:AnimalsCells
  47. 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. PMID: 21447599.
    Citations: 11     Fields:    Translation:HumansAnimalsCells
  48. 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 Feb 17; 6(2):e17118. PMID: 21359198.
    Citations: 17     Fields:    Translation:HumansAnimalsCells
  49. 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. PMID: 20977989.
    Citations: 15     Fields:    Translation:HumansAnimalsCells
  50. 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. PMID: 20702713.
    Citations: 31     Fields:    Translation:AnimalsCells
  51. 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 08; 466(7303):243-7. PMID: 20555325.
    Citations: 59     Fields:    Translation:HumansAnimalsCells
  52. 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. PMID: 20360314.
    Citations: 20     Fields:    Translation:HumansCells
  53. 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 Mar 19; 4:29. PMID: 20302627.
    Citations: 31     Fields:    Translation:AnimalsCells
  54. 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. PMID: 20154343.
    Citations: 32     Fields:    Translation:HumansAnimalsCells
  55. 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. PMID: 19933700.
    Citations: 52     Fields:    Translation:HumansAnimalsCells
  56. Gusella JF, MacDonald ME. Huntington's disease: the case for genetic modifiers. Genome Med. 2009 Aug 21; 1(8):80. PMID: 19725930.
    Citations: 40     Fields:    
  57. 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. PMID: 19507258.
    Citations: 12     Fields:    Translation:HumansCells
  58. 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. PMID: 19464370.
    Citations: 93     Fields:    Translation:HumansAnimals
  59. 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 03; 284(27):18167-73. PMID: 19433866.
    Citations: 46     Fields:    Translation:AnimalsCells
  60. 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. PMID: 18930147.
    Citations: 63     Fields:    Translation:AnimalsCells
  61. 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. PMID: 18649400.
    Citations: 2     Fields:    Translation:HumansCells
  62. 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. PMID: 18319076.
    Citations: 44     Fields:    Translation:Humans
  63. 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. PMID: 18179900.
    Citations: 224     Fields:    Translation:HumansCells
  64. 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. PMID: 18096682.
    Citations: 223     Fields:    Translation:HumansCells
  65. 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. PMID: 18093249.
    Citations: 59     Fields:    Translation:Humans
  66. Gusella JF, MacDonald ME. Expanding the notion of disease in Huntington's disease. Biol Psychiatry. 2007 Dec 15; 62(12):1340. PMID: 18054536.
    Citations:    Fields:    Translation:Humans
  67. 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. PMID: 17660463.
    Citations: 25     Fields:    Translation:HumansCells
  68. 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. PMID: 17708681.
    Citations: 35     Fields:    Translation:HumansAnimalsCells
  69. 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. PMID: 17596446.
    Citations: 90     Fields:    Translation:HumansAnimalsCells
  70. 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; 143A(2):107-11. PMID: 17163523.
    Citations: 5     Fields:    Translation:HumansCells
  71. 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. PMID: 17190945.
    Citations: 10     Fields:    Translation:HumansPHPublic Health
  72. Andresen JM, Gayán J, Djoussé L, Roberts S, Brocklebank D, Cherny SS, Cardon LR, Gusella JF, MacDonald ME, Myers RH, Housman DE, Wexler NS. 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. PMID: 17181545.
    Citations: 27     Fields:    Translation:HumansCells
  73. 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. PMID: 17124493.
    Citations: 30     Fields:    Translation:HumansAnimalsCells
  74. Gusella JF, Macdonald M. Genetic criteria for Huntington's disease pathogenesis. Brain Res Bull. 2007 Apr 30; 72(2-3):78-82. PMID: 17352930.
    Citations: 2     Fields:    Translation:HumansAnimals
  75. 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. PMID: 16987949.
    Citations: 19     Fields:    Translation:HumansCells
  76. 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 Sep 07; 7:62. PMID: 16959037.
    Citations: 5     Fields:    Translation:HumansCells
  77. 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. PMID: 16962786.
    Citations: 9     Fields:    Translation:Cells
  78. 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 Aug 17; 7:71. PMID: 16914060.
    Citations: 29