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.
Papers
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Journal ArticleDOI
Important but not Enough - Information about HD Related Topics and Peer and Professional Support for Young Adults from HD Families.
TL;DR: The results of this survey can help devise a strategy to address unmet needs and also to facilitate research participation of more young adults from HD families.
Posted ContentDOI
Genome-scale transcriptional regulatory network models for the mouse and human striatum predict roles for SMAD3 and other transcription factors in Huntington's disease
Seth A. Ament,Jocelynn R. Pearl,Robert M. Bragg,Peter J Skene,Sydney R. Coffey,Dani E Bergey,Christopher L. Plaisier,Vanessa C. Wheeler,Marcy E. MacDonald,Nitin S. Baliga,Jim Rosinski,Lee Hood,Jeffrey B. Carroll,Nathan D. Price +13 more
TL;DR: This study provides a mouse and human striatal-specific TRN and prioritizes a hierarchy of transcription factor drivers in HD.
Patent
A novel transport protein gene from the Huntington's disease region
TL;DR: In this paper, a novel transport protein, IT10C3, and nucleic acid molecules coding for it were described, as well as recombinant DNA molecules, cells containing them, and antibodies having binding affinity to IT10c3 polypeptides and hybridomas producing the antibodies.
Posted ContentDOI
FAN1 nuclease activity affects CAG expansion and age at onset of Huntington’s disease
Branduff McAllister,Jasmine Donaldson,Binda Cs,Sophie Powell,Chughtai U,Edwards G,JN D Stone,S. V. Lobanov,Lyn Elliston,Schuhmacher L,E. Rees,Georgina E. Menzies,Marc Ciosi,Alastair Maxwell,Michael J. Chao,Eun Pyo Hong,Diane Lucente,Wheeler,Julianna Y. Lee,Julianna Y. Lee,Marcy E. MacDonald,Marcy E. MacDonald,Jeffrey D. Long,Elizabeth Aylward,Georg Bernhard Landwehrmeyer,Anne Elizabeth Rosser,Jane S. Paulsen,Nigel Williams,J. F. Gusella,J. F. Gusella,Darren G. Monckton,Nicholas D. Allen,Peter Holmans,Lesley Jones,Tom Massey +34 more
TL;DR: In this article, the authors used exome sequencing of 683 HD patients with extremes of onset or phenotype relative to CAG length to identify rare variants associated with clinical effect and implicate FAN1 nuclease activity in slowing somatic repeat expansion and hence onset of HD.