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
Different pseudotypesof friend spleen focus-forming virus induce polycythemia and erythropoietin-independent colony formation in serum-free medium
TL;DR: It is concluded that the appearance of truly Epo-independent progenitor cells can be attributed to the defective SFFVP and not the replication-competent F-MuLV P component of FV-P complex.
Journal ArticleDOI
Exome sequencing of individuals with Huntington’s disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset
Branduff McAllister,Jasmine Donaldson,Caroline S Binda,Sophie Powell,Uroosa Chughtai,Gareth Edwards,Joseph Stone,S. V. Lobanov,Linda Anne Elliston,Laura-Nadine Schuhmacher,Elliott Rees,Georgina E. Menzies,Marc Ciosi,Alastair Maxwell,Michael J. Chao,Eun Pyo Hong,Diane Lucente,Vanessa C. Wheeler,Jongmin Lee,Marcy E. MacDonald,Jeffrey D. Long,Elizabeth Aylward,G. Bernhard Landwehrmeyer,Anne Elizabeth Rosser,Jane S. Paulsen,Nigel Williams,James F. Gusella,Darren G. Monckton,Nicholas D. Allen,Peter Holmans,Lesley Jones,Thomas Massey +31 more
TL;DR: In this paper , the authors used exome sequencing of 683 patients with HD with extremes of onset or phenotype relative to CAG length to identify rare variants associated with clinical effect.
Posted ContentDOI
Genetic risk underlying psychiatric and cognitive symptoms in Huntington’s Disease
Natalie Ellis,Amelia Tee,Branduff McAllister,Thomas Massey,Duncan McLauchlan,Duncan McLauchlan,Timothy Stone,Kevin Correia,Jacob M. Loupe,Kyung Hee Kim,Douglas Barker,Eun Pyo Hong,Michael J. Chao,Jeffrey D. Long,Diane Lucente,Jean Paul Vonsattel,Ricardo Mouro Pinto,Kawther Abu Elneel,Eliana Marisa Ramos,Jayalakshmi S. Mysore,Tammy Gillis,Vanessa C. Wheeler,Christopher Medway,Lynsey S. Hall,Seung Kwak,Cristina Sampaio,Marc Ciosi,Alastair Maxwell,Afroditi Chatzi,Darren G. Monckton,Michael Orth,G. Bernhard Landwehrmeyer,Jane S. Paulsen,Ira Shoulson,Richard H. Myers,Erik van Duijn,Hugh Rickards,Marcy E. MacDonald,Marcy E. MacDonald,Jong-Min Lee,James F. Gusella,Lesley Jones,Peter Holmans +42 more
TL;DR: Polygenic risk score for major depression was associated specifically with increased risk of depression in HD, as was schizophrenia risk score with psychosis and irritability, and cognitive impairment and apathy were associated with reduced polygenicrisk score for intelligence.
Journal ArticleDOI
Late-onset and typical Huntington disease families from Crete have distinct genetic origins.
Eleonora Kartsaki,Cleanthe Spanaki,Minas Tzagournissakis,Aphrodite Petsakou,Nicholas K. Moschonas,Marcy E. MacDonald,Andreas Plaitakis +6 more
TL;DR: All late-onset HD families on Crete arose from a common founder with the disease's mutation evolving over the centuries via small-increment instability, which suggests that cis-acting factors may be operational.
Journal ArticleDOI
The alpha-subunit of the skeletal muscle sodium channel is encoded proximal to Tk-1 on mouse chromosome 11.
Christine Ambrose,Shirley V. Cheng,Bertrand Fontaine,Joseph H. Nadeau,Marcy E. MacDonald,James F. Gusella +5 more
TL;DR: Data from an interspecies backcross are consistent with the view that the conserved segment region may extend to the telomere on mouse Chr 11 and on human 17q, and incorporate an additional locus into the already considerable degree of homology observed for these human and mouse chromosomes.