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
Huntingtin is required for neurogenesis and is not impaired by the Huntington's disease CAG expansion.
Jacqueline K. White,Wojtek Auerbach,Mabel P. Duyao,Jean-Paul Vonsattel,James F. Gusella,Alexandra L. Joyner,Marcy E. MacDonald +6 more
TL;DR: The HD defect in man does not mimic complete or partial Hdh inactivation and appears to cause neurodegenerative disease by a gain-of-function mechanism.
Journal ArticleDOI
Mutant huntingtin directly increases susceptibility of mitochondria to the calcium-induced permeability transition and cytochrome c release
TL;DR: The hypothesis that the mutant huntingtin protein may directly interact with the mitochondrion and affect its function and the development of specific MPT inhibitors may be an interesting therapeutic avenue to delay the onset of HD is examined.
Journal ArticleDOI
Long glutamine tracts cause nuclear localization of a novel form of huntingtin in medium spiny striatal neurons in HdhQ92 and HdhQ111 knock-in mice
Vanessa C. Wheeler,Jacqueline K. White,Claire-Anne Gutekunst,Vladimir Vrbanac,Meredith Weaver,Xiao-Jiang Li,Shihua Li,Hong Yi,Jean-Paul Vonsattel,James F. Gusella,Steven M. Hersch,Wojtek Auerbach,Alexandra L. Joyner,Marcy E. MacDonald +13 more
TL;DR: In precise genetic models of juvenile HD, long polyglutamine segments change huntingtin's physical properties, producing HD-like in vivo correlates in the striatum, including nuclear localization of a version of the full-length protein predominant in medium spiny neurons, and subsequent formation of N-terminal inclusions and insoluble aggregate.
Journal ArticleDOI
A compendium of gene expression in normal human tissues.
Li Li Hsiao,Fernando Dangond,Takumi Yoshida,Robert L. Hong,Roderick V. Jensen,Jatin Misra,William P. Dillon,Kailin F. Lee,Kathryn E. Clark,Peter M. Haverty,Zhiping Weng,George L. Mutter,Matthew P. Frosch,Marcy E. MacDonald,Edgar L. Milford,Christopher P. Crum,Raphael Bueno,Richard E. Pratt,Mamatha Mahadevappa,Janet A. Warrington,Gregory Stephanopoulos,George Stephanopoulos,Steven R. Gullans +22 more
TL;DR: A compendium of gene expression in normal human tissues suitable as a reference for defining basic organ systems biology is created and subsets of tissue-selective genes are identified that define key biological processes characterizing each organ.
Journal ArticleDOI
Identification of Genetic Factors that Modify Clinical Onset of Huntington’s Disease
Jong-Min Lee,Vanessa C. Wheeler,Michael J. Chao,Jean Paul G. Vonsattel,Ricardo Mouro Pinto,Diane Lucente,Kawther Abu-Elneel,Eliana Marisa Ramos,Jayalakshmi S. Mysore,Tammy Gillis,Marcy E. MacDonald,James F. Gusella,Denise Harold,Timothy Stone,Valentina Escott-Price,Jun Han,Alexey Vedernikov,Peter Holmans,Lesley Jones,Seung Kwak,Mithra Mahmoudi,Michael Orth,G. Bernhard Landwehrmeyer,Jane S. Paulsen,E. Ray Dorsey,Ira Shoulson,Richard H. Myers +26 more
TL;DR: It is demonstrated that HD disease modification in humans occurs in nature and offer a genetic route to identifying in-human validated therapeutic targets in this and other Mendelian disorders.