M
Marcy E. MacDonald
Researcher at Harvard University
Publications - 322
Citations - 52277
Marcy E. MacDonald is an academic researcher from Harvard University. The author has contributed to research in topics: Huntington's disease & Huntingtin. The author has an hindex of 96, co-authored 315 publications receiving 49085 citations. Previous affiliations of Marcy E. MacDonald include Huntington's Disease Society of America & Ontario Institute for Cancer Research.
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Journal ArticleDOI
Evidence for the GluR6 gene associated with younger onset age of Huntington’s disease
Marcy E. MacDonald,J. P. Vonsattel,J. Shrinidhi,Nat N. Couropmitree,L. A. Cupples,Edward D. Bird,J. F. Gusella,Richard H. Myers +7 more
TL;DR: This study confirms that the 155 allele is associated with younger onset age of HD and suggests that it is in linkage disequilibrium with a variant of the GluR6 gene or another gene in this region.
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Membrane trafficking and mitochondrial abnormalities precede subunit c deposition in a cerebellar cell model of juvenile neuronal ceroid lipofuscinosis
Elisa Fossale,Pavlina Wolf,Janice A. Espinola,Tanya Lubicz-Nawrocka,Allison Teed,Hanlin Gao,Dorotea Rigamonti,Elena Cattaneo,Marcy E. MacDonald,Susan L. Cotman +9 more
TL;DR: These findings reveal that battenin is required for intracellular membrane trafficking and mitochondrial function and may particularly impact neuronal survival in the JNCL disease process.
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Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study.
Mei Sun,Jeanne C. Latourelle,G. Frederick Wooten,Mark F. Lew,Christine Klein,Holly A. Shill,Lawrence I. Golbe,Margery H. Mark,Brad A. Racette,Joel S. Perlmutter,Abbas Parsian,Mark Guttman,Garth A. Nicholson,Gang Xu,Jemma B. Wilk,Marie Saint-Hilaire,Anita L. DeStefano,Ranjana Prakash,S. Williamson,Oksana Suchowersky,N. Labelle,John H. Growdon,Carlos Singer,Ray L. Watts,Stefano Goldwurm,Gianni Pezzoli,Kenneth B. Baker,Peter P. Pramstaller,David J. Burn,Patrick F. Chinnery,Scott J. Sherman,Peter Vieregge,Irene Litvan,Tammy Gillis,Marcy E. MacDonald,Richard H. Myers,James F. Gusella +36 more
TL;DR: Data indicate that parkin mutations are not rare in multiply affected sibships, and that heterozygous mutation carrier status in PARK2 significantly influences age at onset of Parkinson disease.
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RNA Sequence Analysis of Human Huntington Disease Brain Reveals an Extensive Increase in Inflammatory and Developmental Gene Expression.
Adam Labadorf,Andrew G. Hoss,Valentina N. Lagomarsino,Jeanne C. Latourelle,Tiffany C. Hadzi,Joli Bregu,Marcy E. MacDonald,James F. Gusella,Jiang-Fan Chen,Schahram Akbarian,Zhiping Weng,Richard H. Myers +11 more
TL;DR: A genome-wide analysis of mRNA expression in human prefrontal cortex from 20 HD and 49 neuropathologically normal controls using next generation high-throughput sequencing finds that the differentially expressed genes are enriched for immune response, neuroinflammation, and developmental genes.
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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.
TL;DR: Significant activation of the Akt pro-survival pathway in mutant knock-in striatal cells predates overt pathology and reflects mitochondrial dysfunction and enhanced NMDA receptor signaling in Huntington's disease.