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
Characterization of Apparently Balanced Chromosomal Rearrangements from the Developmental Genome Anatomy Project
Anne W. Higgins,Fowzan S. Alkuraya,Amy Foster Bosco,Kerry K. Brown,G. A. P. Bruns,Diana J. Donovan,Robert Eisenman,Yanli Fan,Chantal Farra,Heather L. Ferguson,James F. Gusella,David J. Harris,Steven R. Herrick,Chantal Kelly,Hyung Goo Kim,Shotaro Kishikawa,Bruce R. Korf,Shashikant Kulkarni,Eric Lally,Natalia T. Leach,E. Lemyre,Janine Lewis,Azra H. Ligon,Weining Lu,Richard L. Maas,Marcy E. MacDonald,Steven D.P. Moore,Roxanna E. Peters,Bradley J. Quade,Fabiola Quintero-Rivera,Irfan Saadi,Yiping Shen,Jay Shendure,Robin E. Williamson,Cynthia C. Morton +34 more
TL;DR: Apparently balanced chromosomal rearrangements in individuals with major congenital anomalies represent natural experiments of gene disruption and dysregulation and can be studied to identify novel genes critical in human development and to annotate further the function of known genes.
Journal ArticleDOI
Analysis of Germline Mutation Spectra at the Huntington's Disease Locus Supports a Mitotic Mutation Mechanism
Esther P. Leeflang,Simon Tavaré,Paul Marjoram,Carolyn O. S. Neal,Jayalakshmi Srinidhi,Heather MacFarlane,Marcy E. MacDonald,James F. Gusella,Margot de Young,Nancy S. Wexler,Nancy S. Wexler,Norman Arnheim +11 more
TL;DR: A statistical model based on incomplete processing of Okazaki fragments during DNA replication was found to provide an excellent fit to the data but variation in parameter values among individuals suggests that the molecular mechanism might be more complex.
Journal ArticleDOI
A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.
John F. Staropoli,Amel Karaa,Elaine T. Lim,Andrew Kirby,Andrew Kirby,Naser Elbalalesy,Stephen G. Romansky,Karen Leydiker,Scott H. Coppel,Rosemary Barone,Winnie Xin,Marcy E. MacDonald,Jose E. Abdenur,Mark J. Daly,Mark J. Daly,Katherine B. Sims,Susan L. Cotman +16 more
TL;DR: This study clearly demonstrates that KCTD7 mutations also cause a rare, infantile-onset NCL subtype designated as CLN14, which is a genetically heterogeneous group of lysosomal diseases that collectively compose the most common Mendelian form of childhood-ONSet neurodegeneration.
Journal ArticleDOI
Localization of the huntington's disease gene to a small segment of chromosome 4 flanked by D4S10 and the telomere
T. Conrad Gilliam,Rudolph E. Tanzi,Jonathan Haines,Tom I. Bonner,Ann Faryniarz,Wendy Hobbs,Marcy E. MacDonald,Shirley V. Cheng,Susan E. Folstein,P. Michael Conneally,P. Michael Conneally,Nancy S. Wexler,James F. Gusella +12 more
TL;DR: This work has identified restriction fragment length polymorphisms for two recently mapped chromosome 4 loci, RAF2 and D4S62, and determined the pattern of segregation of these markers in both reference and HD pedigrees, and establishes that the HD gene is located in a very small physical region at the tip of the chromosome, bordered by D 4S10 and the telomere.
Journal ArticleDOI
A novel G protein-coupled receptor kinase gene cloned from 4p16.3
Christine Ambrose,Marianne James,Glenn Barnes,Carol Lin,Gillian P. Bates,Michael R. Altherr,Mabel P. Duyao,Nicolet Groot,Deanna M. Church,John J. Wasmuth,Hans Lehrach,David E. Housman,Alan Buckler,James F. Gusella,Marcy E. MacDonald +14 more
TL;DR: The discovery of a new gene encoding a novel member of a family of protein kinases that specifically phosphorylate the activated forms of G protein-coupled receptors is reported.