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
Huntington's disease: the case for genetic modifiers
TL;DR: The search for genetic modifiers, much as the search for the HD gene did in the past, offers to open new entrées into the process of Huntington's disease pathogenesis by unlocking the biochemical changes that occur many years before diagnosis, and thereby providing validated target proteins and pathways for development of rational therapeutic interventions.
Journal ArticleDOI
The relationship between CAG repeat length and age of onset differs for Huntington's disease patients with juvenile onset or adult onset.
J. Michael Andresen,Javier Gayán,Luc Djoussé,Simone Roberts,Denise Brocklebank,Stacey S. Cherny,Lon R. Cardon,James F. Gusella,Marcy E. MacDonald,Richard H. Myers,David E. Housman,Nancy S. Wexler,Judith Lorimer,Julie Porter,Fidela Gomez,Carol Moskowitz,Kelly Posner Gerstenhaber,Edith Shackell,Karen Marder,Penchaszadeh Gk,Simone A. Roberts,Adam M. Brickman,Jacqueline Gray,Stephen R. Dlouhy,Sandra Wiktorski,Marion E. Hodes,P. Michael Conneally,John B. Penney,Jang Ho Cha,Micheal Irizarry,Diana Rosas,Steven M. Hersch,Zane R. Hollingsworth,Anne B. Young,Margot de Young,Ernesto Bonilla,Theresa Stillings,Américo Negrette,S. Robert Snodgrass,Maria Dolores Martinez-Jaurrieta,Maria A. Ramos-Arroyoh,Jacqueline Bickham,Juan Sanchez Ramos,Frederick J. Marshall,Ira Shoulson,Gustavo Rey,Andrew Feigin,Norman Arnheim,Amarilis Acevedo-Cruz,Leticia Acosta,Jose Alvir,Kenneth H. Fischbeck,Leslie M. Thompson,Angela Young,Leon S. Dure,Christopher J. O'Brien,Jane S. Paulsen,Shelley Peery Moran,Denise Krch,Penelope Hogarth,Donald S. Higgins,Bernhard Landwehrmeyer,Michael R. Hayden,E. Almqvist,Ryan R. Brinkman,Oksana Suchowersky,Alexandra Durr,Catherine Dodé,Ferdinando Squitieri,Patrick J. Morrison,Patrick J. Morrison,Martha Nance,Christopher A. Ross,Russell L. Margolis,Adam Rosenblatt,Gómez Tortosai Estrella,David Mayo Cabrero,Ronald J. Trent,Elizabeth McCusker,Andrea Novelletto,Marina Frontali,J.S. Paulsen,Randi Jones,Andrea Zanko,Tetsuo Ashizawa,Alice Lazzarini,Jian-Liang Li,Jian-Liang Li,Vanessa C. Wheeler,Ana L. Russ,Gang Xu,Jayalakshmi S. Mysore,Tammy Gillis,Michael Hakky,L. Adrienne Cupples,Marie Saint-Hilaire,Steven M. Hersch +96 more
TL;DR: In this article, a two-segment exponential regression model was proposed for age-of-obstinence analysis of the CAG repeat expansion in the HD gene, and a plot of natural log-transformed age of onset against CAG-repeat length revealed this segmental relationship.
Journal ArticleDOI
Thalamocortical neuron loss and localized astrocytosis in the Cln3Δex7/8 knock-in mouse model of Batten disease
TL;DR: Stereological analysis revealed a pronounced loss of neurons within individual laminae of somatosensory cortex of affected mice and the novel finding of a loss of sensory relay thalamic neurons in JNCL.
Journal ArticleDOI
Decreased association of the transcription factor Sp1 with genes downregulated in Huntington's disease.
Alice S. Chen-Plotkin,Ghazaleh Sadri-Vakili,George J. Yohrling,Melissa W. Braveman,Caroline L. Benn,Kelly E. Glajch,Derek P. DiRocco,Laurie A. Farrell,Dimitri Krainc,Silvia Ginés,Marcy E. MacDonald,Jang Ho J. Cha +11 more
TL;DR: It is found that mutant huntingtin dissociates Sp1 from target promoters, inhibiting transcription of specific genes in transgenic HD mouse brain, in striatal HD cells, and in human HD brain.
Journal ArticleDOI
The HTT CAG-Expansion Mutation Determines Age at Death but Not Disease Duration in Huntington Disease.
Jae Whan Keum,Aram Shin,Tammy Gillis,Jayalakshmi S. Mysore,Kawther Abu Elneel,Diane Lucente,Tiffany C. Hadzi,Peter Holmans,Lesley Jones,Michael Orth,Seung Kwak,Marcy E. MacDonald,James F. Gusella,Jong-Min Lee +13 more
TL;DR: It is found that, as with clinical onset, HD age at death is determined by expanded CAG-repeat length and has no contribution from the normal CAG allele, and Surprisingly, disease duration is independent of the mutation's length.