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
Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease
Russell G. Snell,J C MacMillan,Jeremy Peter Cheadle,I. Fenton,L. P. Lazarou,Peter Davies,Marcy E. MacDonald,James F. Gusella,Peter S. Harper,D.J. Shaw +9 more
TL;DR: The molecular analysis of a specific CAG repeat sequence in the Huntington's disease gene reveals a range of 30–70 repeats in affected individuals and 9–34 in normals, which suggests that normal gene function varies because of the size of the repeat in the normal range and a sex–specific modifying effect.
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Dominant phenotypes produced by the HD mutation in STHdhQ111 striatal cells
Flavia Trettel,Dorotea Rigamonti,Paige Hilditch-Maguire,Vanessa C. Wheeler,Alan H. Sharp,Francesca Persichetti,Elena Cattaneo,Marcy E. MacDonald +7 more
TL;DR: These phenotypes indicate a disruption of striatal cell homeostasis by the mutant protein, via a mechanism that is separate from its normal activity, and support specific stress pathways, including elevated p53, endoplasmic reticulum stress response and hypoxia, as potential players in HD.
Journal ArticleDOI
CAG repeat number governs the development rate of pathology in Huntington's disease
John B. Penney,Jean-Paul Vonsattel,Marcy E. MacDonald,James F. Gusella,Richard H. Myers,Richard H. Myers +5 more
TL;DR: The results imply that striatal damage in Huntington's disease is almost entirely a lineaar function of the length of the polyglutamine stretch beyond 35.5 repeats, and it is predicted that the pathological process develops linearly from birth.
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Disruption of Neurexin 1 Associated with Autism Spectrum Disorder
Hyung Goo Kim,Shotaro Kishikawa,Anne W. Higgins,Ihn Sik Seong,Diana J. Donovan,Yiping Shen,Eric Lally,Lauren A. Weiss,Lauren A. Weiss,Juliane Najm,Kerstin Kutsche,Maria Descartes,Lynn Holt,Stephen R. Braddock,Robin Troxell,Lee M. Kaplan,Fred R. Volkmar,Ami Klin,Katherine D. Tsatsanis,David J. Harris,Ilse Noens,David L. Pauls,Mark J. Daly,Mark J. Daly,Marcy E. MacDonald,Marcy E. MacDonald,Cynthia C. Morton,Cynthia C. Morton,Bradley J. Quade,James F. Gusella +29 more
TL;DR: A number of rare sequence variants in the coding region, including two missense changes in conserved residues of the alpha-neurexin 1 leader sequence and of an epidermal growth factor (EGF)-like domain, suggest that even subtle changes in NRXN1 might contribute to susceptibility to ASD.
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Polyglutamine-Expanded Human Huntingtin Transgenes Induce Degeneration of Drosophila Photoreceptor Neurons
George R. Jackson,Iris Salecker,Xinzhong Dong,Xiang Yao,Norman Arnheim,Peter W. Faber,Marcy E. MacDonald,S. Lawrence Zipursky +7 more
TL;DR: A Drosophila model for Huntington's disease is described, and coexpression of the viral antiapoptotic protein, P35, did not rescue the cell death phenotype induced by polyglutamine-expanded huntingtin.