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
Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onset
Eliana Marisa Ramos,Eliana Marisa Ramos,Jeanne C. Latourelle,Ji Hyun Lee,Tammy Gillis,Jayalakshmi S. Mysore,Ferdinando Squitieri,Alba Di Pardo,Stefano Di Donato,Michael R. Hayden,Patrick J. Morrison,Martha Nance,Christopher A. Ross,Russell L. Margolis,Estrella Gómez-Tortosa,Carmen Ayuso,Oksana Suchowersky,Ronald J. Trent,Elizabeth McCusker,Andrea Novelletto,Marina Frontali,Randi Jones,Tetsuo Ashizawa,Samuel Frank,Marie-Helene Saint-Hilaire,Steven M. Hersch,H. D. Rosas,Diane Lucente,Madaline B. Harrison,Andrea Zanko,Karen Marder,James F. Gusella,James F. Gusella,Jong-Min Lee,Jong-Min Lee,Isabel Alonso,Jorge Sequeiros,Richard H. Myers,Marcy E. MacDonald,Marcy E. MacDonald +39 more
TL;DR: Evidence for a dramatic effect of phenotypic (AO) and genotyping (MAF) stratification among European cohorts that was not considered in previously reported association studies is found, suggesting population-dependent phenotype stratification.
Journal ArticleDOI
Promotion of somatic CAG repeat expansion by Fan1 knock-out in Huntington's disease knock-in mice is blocked by Mlh1 knock-out.
Jacob M. Loupe,Ricardo Mouro Pinto,Kyung Hee Kim,Tammy Gillis,Jayalakshmi S. Mysore,Marissa A Andrew,Marina Kovalenko,Ryan Murtha,Ihn Sik Seong,James F. Gusella,Seung Kwak,David Howland,Ramee Lee,Jong-Min Lee,Vanessa C. Wheeler,Marcy E. MacDonald,Marcy E. MacDonald +16 more
TL;DR: Evaluated mouse orthologs of two HD age-at-onset modifier genes reveal that functional FAN1 acts to suppress somatic CAG repeat expansion, likely in genetic interaction with other DNA instability modifiers whose combined effects can hasten or delay onset and other C AG repeat length-driven phenotypes.
Journal ArticleDOI
Coexistence of Huntington's disease and familial amyotrophic lateral sclerosis: case presentation.
A. Rubio,K. Steinberg,D A Figlewicz,Marcy E. MacDonald,T. Greenamyre,R. Hamill,Ira Shoulson,James M. Powers +7 more
TL;DR: The concurrence of HD and FALS in the patient and three previously reported cases did not appear to be associated with cosegregation in other family members, and molecular analysis demonstrated chromosome 4p16.3 expansion of trinucleotide repeats characteristic of HD.
Journal ArticleDOI
Detection by PCR of a VNTR polymorphism at D4S43.
Journal ArticleDOI
Genetic Modification of Huntington Disease Acts Early in the Prediagnosis Phase
Jeffrey D. Long,Jeffrey D. Long,Jong-Min Lee,Jong-Min Lee,Elizabeth Aylward,Tammy Gillis,Jayalakshmi S. Mysore,Kawther Abu Elneel,Michael J. Chao,Jane S. Paulsen,Jane S. Paulsen,Marcy E. MacDonald,Marcy E. MacDonald,James F. Gusella,James F. Gusella +14 more
TL;DR: The data indicate that modification of pathogenesis can occur early in the prediagnosis phase, the modifier loci act in genetic interaction with the HD mutation rather than through independent additive effects, and HD subclinical phenotypes are differentially influenced by each modifier, implying distinct effects in different cells or tissues.