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
    The Molecular Basis of NCL
    Role: Principal Investigator
  2. R01NS032765 (MACDONALD, MARCY) May 1, 1994 - Mar 31, 2014
    NIH
    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
    MOLECULAR BASIS OF JUVENILE NCL
    Role: Principal Investigator
  4. P50NS016367 (GUSELLA, JAMES F) Jul 1, 1980 - Mar 31, 2012
    NIH
    Huntington's Disease Center Without Walls
    Role: Co-Principal Investigator

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. Lee JM, Huang Y, Orth M, Gillis T, Siciliano J, Hong E, Mysore JS, Lucente D, Wheeler VC, Seong IS, McLean ZL, Mills JA, McAllister B, Lobanov SV, Massey TH, Ciosi M, Landwehrmeyer GB, Paulsen JS, Dorsey ER, Shoulson I, Sampaio C, Monckton DG, Kwak S, Holmans P, Jones L, MacDonald ME, Long JD, Gusella JF. Genetic modifiers of Huntington disease differentially influence motor and cognitive domains. Am J Hum Genet. 2022 Mar 18. PMID: 35325614.
    Citations:    Fields:    
  2. Gusella JF, Lee JM, MacDonald ME. Huntington's disease: nearly four decades of human molecular genetics. Hum Mol Genet. 2021 10 01; 30(R2):R254-R263. PMID: 34169318.
    Citations:    Fields:    
  3. Jung R, Lee Y, Barker D, Correia K, Shin B, Loupe J, Collins RL, Lucente D, Ruliera J, Gillis T, Mysore JS, Rodan L, Picker J, Lee JM, Howland D, Lee R, Kwak S, MacDonald ME, Gusella JF, Seong IS. Mutations causing Lopes-Maciel-Rodan syndrome are huntingtin hypomorphs. Hum Mol Genet. 2021 04 26; 30(3-4):135-148. PMID: 33432339.
    Citations: 1     Fields:    Translation:HumansCells
  4. McAllister B, Gusella JF, Landwehrmeyer GB, Lee JM, MacDonald ME, Orth M, Rosser AE, Williams NM, Holmans P, Jones L, Massey TH. Timing and Impact of Psychiatric, Cognitive, and Motor Abnormalities in Huntington Disease. Neurology. 2021 05 11; 96(19):e2395-e2406. PMID: 33766994.
    Citations: 1     Fields:    Translation:HumansCTClinical Trials
  5. Hong EP, Chao MJ, Massey T, McAllister B, Lobanov S, Jones L, Holmans P, Kwak S, Orth M, Ciosi M, Monckton DG, Long JD, Lucente D, Wheeler VC, MacDonald ME, Gusella JF, Lee JM. Association Analysis of Chromosome X to Identify Genetic Modifiers of Huntington's Disease. J Huntingtons Dis. 2021; 10(3):367-375. PMID: 34180418.
    Citations:    Fields:    Translation:HumansCells
  6. Hong EP, MacDonald ME, Wheeler VC, Jones L, Holmans P, Orth M, Monckton DG, Long JD, Kwak S, Gusella JF, Lee JM. Huntington's Disease Pathogenesis: Two Sequential Components. J Huntingtons Dis. 2021; 10(1):35-51. PMID: 33579862.
    Citations: 12     Fields:    Translation:HumansCells
  7. Loupe JM, Pinto RM, Kim KH, Gillis T, Mysore JS, Andrew MA, Kovalenko M, Murtha R, Seong I, Gusella JF, Kwak S, Howland D, Lee R, Lee JM, Wheeler VC, MacDonald ME. Promotion of somatic CAG repeat expansion by Fan1 knock-out in Huntington's disease knock-in mice is blocked by Mlh1 knock-out. Hum Mol Genet. 2020 11 04; 29(18):3044-3053. PMID: 32876667.
    Citations: 16     Fields:    Translation:HumansAnimalsCells
  8. Kim KH, Hong EP, Shin JW, Chao MJ, Loupe J, Gillis T, Mysore JS, Holmans P, Jones L, Orth M, Monckton DG, Long JD, Kwak S, Lee R, Gusella JF, MacDonald ME, Lee JM. Genetic and Functional Analyses Point to FAN1 as the Source of Multiple Huntington Disease Modifier Effects. Am J Hum Genet. 2020 07 02; 107(1):96-110. PMID: 32589923.
    Citations: 14     Fields:    Translation:HumansCells
  9. Kim KH, Abu Elneel K, Shin JW, Keum JW, Seong D, Kwak S, Lee R, Gusella JF, MacDonald ME, Seong IS, Lee JM. Full sequence of mutant huntingtin 3'-untranslated region and modulation of its gene regulatory activity by endogenous microRNA. J Hum Genet. 2019 Oct; 64(10):995-1004. PMID: 31296921.
    Citations: 1     Fields:    Translation:HumansCells
  10. 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: 6     Fields:    Translation:Animals
  11. 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: 10     Fields:    Translation:Humans
  12. 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: 2     
  13. 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: 8     Fields:    Translation:AnimalsCells
  14. 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: 30     Fields:    Translation:HumansAnimalsCells
  15. 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: 12     Fields:    Translation:HumansCells
  16. 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: 6     Fields:    Translation:HumansCells
  17. 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: 15     Fields:    Translation:HumansCells
  18. 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: 91     Fields:    Translation:HumansCells
  19. 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:    
  20. 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: 47     Fields:    Translation:Humans
  21. 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: 69     Fields:    Translation:Humans
  22. 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: 10     Fields:    Translation:HumansCells
  23. 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: 9     Fields:    Translation:HumansAnimalsCells
  24. 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: 55     Fields:    Translation:Humans
  25. 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: 3     Fields:    Translation:HumansCells
  26. 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: 4     Fields:    Translation:HumansCells
  27. 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: 3     Fields:    Translation:HumansAnimalsCells
  28. 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: 24     Fields:    Translation:AnimalsCells
  29. 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: 14     Fields:    Translation:Humans
  30. 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: 45     Fields:    Translation:HumansAnimalsCells
  31. 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: 10     Fields:    Translation:HumansAnimalsCells
  32. Gusella JF, MacDonald ME, Lee JM. Genetic modifiers of Huntington's disease. Mov Disord. 2014 Sep 15; 29(11):1359-65. PMID: 25154728.
    Citations: 45     Fields:    Translation:HumansCells
  33. 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: 1     Fields:    Translation:HumansCells
  34. 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: 50     Fields:    Translation:HumansAnimalsCells
  35. 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: 4     Fields:    Translation:Animals
  36. 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: 20     Fields:    Translation:AnimalsCells
  37. 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
  38. 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: 708     Fields:    Translation:HumansAnimalsCells
  39. 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: 16     Fields:    Translation:HumansCells
  40. 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: 14     Fields:    Translation:HumansAnimalsCells
  41. 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: 37     Fields:    Translation:HumansCells
  42. 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 cel