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
An ovine transgenic Huntington's disease model
Jessie C. Jacobsen,C. Simon Bawden,Skye R. Rudiger,Clive J. McLaughlan,Suzanne J. Reid,Henry J. Waldvogel,Marcy E. MacDonald,James F. Gusella,Simon K. Walker,Jennifer M. Kelly,Graham C. Webb,Richard L.M. Faull,Mark I. Rees,Mark I. Rees,Russell G. Snell +14 more
TL;DR: A new large-animal HD transgenic ovine model selected because the developmental pattern of the ovine basal ganglia and cortex (the regions primarily affected in HD) is similar to the analogous regions of the human brain is developed.
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Cln3(Deltaex7/8) knock-in mice with the common JNCL mutation exhibit progressive neurologic disease that begins before birth.
Susan L. Cotman,Vladimir Vrbanac,Lori-Anne Lebel,Richard L. Lee,Kevin A. Johnson,Leah-Rae Donahue,Allison Teed,Kristen Auger Antonellis,Roderick T. Bronson,Terry J. Lerner,Marcy E. MacDonald +10 more
TL;DR: The harmful impact of the common JNCL mutation on the CNS was not well correlated with membrane deposition per se, suggesting instead a specific battenin activity that is essential for the survival of CNS neurons.
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Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: quantification of the mutation frequency spectrum
Esther P. Leeflang,Lin Zhang,Simon Tavaré,Rene S. Hubert,Jayalakshmi Srinidhi,Marcy E. MacDonald,Richard H. Myers,Margot de Young,Nancy S. Wexler,James F. Gusella,Norman Arnheim +10 more
TL;DR: The CAG triplet repeat region of the Huntington's disease gene was amplified in 923 single sperm from three affected and two normal individuals and an excellent fit was found when the model specified that a random number of repeats are added during the progression of the polymerase through the repeated region.
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Reversal of a full-length mutant huntingtin neuronal cell phenotype by chemical inhibitors of polyglutamine-mediated aggregation.
TL;DR: At least some compounds identified as aggregation inhibitors also prevent a neuronal cellular phenotype caused by full-length mutant huntingtin, suggesting that in vitro fragment aggregation can act as a proxy for monitoring the disease-producing conformational property in HD.
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Biotin-responsive Basal Ganglia Disease Maps to 2q36.3 and Is Due to Mutations in SLC19A3
Wenqi Zeng,Eiman Al-Yamani,James S. Acierno,Susan A. Slaugenhaupt,Tammy Gillis,Marcy E. MacDonald,Pinar T. Ozand,James F. Gusella +7 more
TL;DR: Using linkage analysis in four families, the genetic defect near marker D2S2158 in 2q36 was mapped to a minimum candidate region (approximately 2 Mb) between D 2S2354 and D2 S1256, on the basis of complete homozygosity.