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
More filters
Journal ArticleDOI
CAG repeat not polyglutamine length determines timing of Huntington’s disease onset
Jongmin Lee,Kevin Correia,Jacob M. Loupe,Kyung Hee Kim,Douglas Barker,Eun Pyo Hong,Michael J. Chao,Jeffrey D. Long,Diane Lucente,Jean Paul G. Vonsattel,Ricardo Mouro Pinto,Kawther Abu Elneel,Eliana Marisa Ramos,Jayalakshmi S. Mysore,Tammy Gillis,Vanessa C. Wheeler,Marcy E. MacDonald,James F. Gusella,Branduff McAllister,Thomas Massey,Christopher Medway,Timothy Stone,Lynsey S. Hall,Lesley Jones,Peter Holmans,Seung Kwak,Anka G. Ehrhardt,Cristina Sampaio,Marc Ciosi,Alastair Maxwell,Afroditi Chatzi,Darren G. Monckton,Michael Orth,G. Bernhard Landwehrmeyer,Jane S. Paulsen,E. Ray Dorsey,Ira Shoulson,Richard H. Myers +37 more
TL;DR: Variable, glutamine-encoding, CAA interruptions indicate that a property of the uninterrupted HTT CAG repeat sequence, distinct from the length of huntingtin’s polyglutamine segment, dictates the rate at which Huntington's disease (HD) develops.
Journal ArticleDOI
De novo expansion of a (CAG)n repeat in sporadic Huntington's disease.
Richard H. Myers,Marcy E. MacDonald,Walter J. Koroshetz,Mabel P. Duyao,Christine Ambrose,Sherryl A.M. Taylor,Glenn Barnes,Jayalakshmi Srinidhi,Carol Lin,W L Whaley +9 more
TL;DR: Nine families with potential de novo expression of Huntington's disease are examined, finding elderly unaffected relatives inherited the same chromosome as that containing the expanded repeat in the proband, but had repeat lengths of 34–38 units, spanning the gap between the normal and HD distributions.
Journal ArticleDOI
1H NMR spectroscopy studies of Huntington's disease Correlations with CAG repeat numbers
Bruce G. Jenkins,H. D. Rosas,Yin-Ching Iris Chen,T. Makabe,Richard H. Myers,Marcy E. MacDonald,Bruce R. Rosen,M F Beal,W. J. Koroshetz +8 more
TL;DR: The spectra in three presymptomatic gene-positive patients were identical to normal control subjects in cortical regions, but three in eight showed elevated lactate in the striatum, and it was found that striatal lactate levels in HD patients were markedly asymmetric.
Journal ArticleDOI
Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration
Colby Chiang,Jessie C Jacobsen,Carl Ernst,Carrie Hanscom,Adrian Heilbut,Ian Blumenthal,Ryan E. Mills,Andrew Kirby,Andrew Kirby,Amelia M. Lindgren,Skye R. Rudiger,Clive J. McLaughlan,C. Simon Bawden,Suzanne J. Reid,Richard L.M. Faull,Russell G. Snell,Ira M. Hall,Yiping Shen,Yiping Shen,Toshiro K. Ohsumi,Mark L. Borowsky,Mark J. Daly,Mark J. Daly,Charles Lee,Cynthia C. Morton,Cynthia C. Morton,Marcy E. MacDonald,James F. Gusella,Michael E. Talkowski +28 more
TL;DR: This paper defined the genetic landscape of balanced chromosomal rearrangements at nucleotide resolution by sequencing 141 breakpoints from cytogenetically interpreted translocations and inversions and compared these results to experimentally generated DNA breakage-repair by sequencing seven transgenic animals.
Journal ArticleDOI
Huntingtin: an iron-regulated protein essential for normal nuclear and perinuclear organelles
Paige Hilditch-Maguire,Flavia Trettel,Lucius A. Passani,Anna Auerbach,Francesca Persichetti,Marcy E. MacDonald +5 more
TL;DR: Organelles that require huntingtin to function suggest roles for the protein in RNA biogenesis, trafficking and iron homeostasis to be explored in HD pathogenesis.