World's Best Scientists 2026 revealed!
Marcy E. MacDonald

Marcy E. MacDonald

Award Badge
Best Female Scientists
2025

D-Index & Metrics

Best Female Scientists

D-Index
114
Citations
63364
World Ranking
728
National Ranking
440

Neuroscience

D-Index
115
Citations
65056
World Ranking
446
National Ranking
262

Genetics

D-Index
115
Citations
64647
World Ranking
450
National Ranking
229

Medicine

D-Index
115
Citations
65193
World Ranking
4457
National Ranking
2429

Research.com Recognitions

  • 2025 - Research.com Best Female Scientists Award

Overview

Marcy E. MacDonald is affiliated with Harvard University in the United States, focusing primarily on research related to genetic neurodegenerative diseases. Their work spans several interconnected fields within biochemistry, genetics, molecular biology, and neuroscience, with a particular concentration on molecular biology and cellular and molecular neuroscience subfields.

The topics of their research include genetic neurodegenerative diseases, mitochondrial function and pathology, ubiquitin and proteasome pathways, neurological disorders and treatments, DNA repair mechanisms, muscle physiology and disorders, and RNA research and splicing.

Marcy E. MacDonald has contributed to notable papers, including:

  • "Promotion of somatic CAG repeat expansion by Fan1 knock-out in Huntington's disease knock-in mice is blocked by Mlh1 knock-out," 2020, Human Molecular Genetics
  • "Genetic and Functional Analyses Point to FAN1 as the Source of Multiple Huntington Disease Modifier Effects," 2020, The American Journal of Human Genetics
  • "Genetic modifiers of somatic expansion and clinical phenotypes in Huntington's disease highlight shared and tissue-specific effects," 2025, Nature Genetics
  • "A Multi-Omic Huntington's Disease Transgenic Sheep-Model Database for Investigating Disease Pathogenesis," 2021, Journal of Huntington s Disease
  • "Posttranscriptional regulation of FAN1 by miR-124-3p at rs3512 underlies onset-delaying genetic modification in Huntington's disease," 2024, Proceedings of the National Academy of Sciences

Their frequent coauthors have included James F. Gusella, Jong-Min Lee, Tammy Gillis, Seung Kwak, and Kyung-Hee Kim.

Marcy E. MacDonald has published works in several venues, most frequently in bioRxiv (Cold Spring Harbor Laboratory), along with publications in Human Molecular Genetics, The American Journal of Human Genetics, Nature Genetics, and Proceedings of the National Academy of Sciences.

Best Publications

  • A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes

    Marcy E. MacDonald;Christine M. Ambrose;Mabel P. Duyao;Richard H. Myers

  • A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group.

    M Shah;N Datson;L Srinidhi;VP Stanton

  • Homozygous Defect in HIV-1 Coreceptor Accounts for Resistance of Some Multiply-Exposed Individuals to HIV-1 Infection

    Rong Liu;William A Paxton;Sunny Choe;Daniel Ceradini

  • Integrated Systems Approach Identifies Genetic Nodes and Networks in Late-Onset Alzheimer’s Disease

    Bin Zhang;Chris Gaiteri;Liviu Gabriel Bodea;Zhi Wang

  • A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor

    James A. Trofatter;Mia M. MacCollin;Joni L. Rutter;Jill R. Murrell

  • Loss of Huntingtin-Mediated BDNF Gene Transcription in Huntington's Disease

    Chiara Zuccato;Andrea Ciammola;Dorotea Rigamonti;Blair R. Leavitt

  • Huntingtin Controls Neurotrophic Support and Survival of Neurons by Enhancing BDNF Vesicular Transport along Microtubules

    Laurent R Gauthier;Bénédicte C Charrin;Maria Borrell-Pagès;Jim P Dompierre

  • Trinucleotide repeat length instability and age of onset in Huntington's disease

    M Duyao;C Ambrose;R Myers;A Novelletto

  • Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset

    Nancy S. Wexler;Judith Lorimer;Julie Porter;Fidela Gomez

  • Inactivation of the mouse Huntington's disease gene homolog Hdh.

    Mabel P. Duyao;Anna B. Auerbach;Angela Ryan;Francesca Persichetti

  • Detection of Huntington’s disease decades before diagnosis: The Predict HD study

    Jane Paulsen;Douglas R Langbehn;Julie C Stout;Elizabeth H Aylward

  • Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease

    Russell G. Snell;John C. MacMillan;Jeremy Peter Cheadle;Iain Fenton

  • CAG repeat number governs the development rate of pathology in Huntington's disease

    John B. Penney;Jean‐Paul Vonsattel;Marcy E. Macdonald;James F. Gusella

  • Disruption of Neurexin 1 Associated with Autism Spectrum Disorder

    Hyung Goo Kim;Shotaro Kishikawa;Anne W. Higgins;Ihn Sik Seong

  • Dominant phenotypes produced by the HD mutation in STHdhQ111 striatal cells

    Flavia Trettel;Dorotea Rigamonti;Paige Hilditch-Maguire;Vanessa C. Wheeler

  • Huntingtin is required for neurogenesis and is not impaired by the Huntington's disease CAG expansion.

    Jacqueline K. White;Wojtek Auerbach;Mabel P. Duyao;Jean-Paul Vonsattel

  • Polyglutamine-Expanded Human Huntingtin Transgenes Induce Degeneration of Drosophila Photoreceptor Neurons

    George R Jackson;Iris Salecker;Xinzhong Dong;Xiang Yao

  • Induced Pluripotent Stem Cells from Patients with Huntington’s Disease : Show CAG Repeat-Expansion-Associated Phenotypes

    Virginia B. Mattis;Soshana P. Svendsen;Allison Ebert;Clive N. Svendsen

  • Identification of Genetic Factors that Modify Clinical Onset of Huntington’s Disease

    Jong-Min Lee;Vanessa C. Wheeler;Michael J. Chao;Jean Paul G. Vonsattel

  • Mutant huntingtin directly increases susceptibility of mitochondria to the calcium-induced permeability transition and cytochrome c release

    Yeun Su Choo;Gail V.W. Johnson;Marcy MacDonald;Peter J. Detloff

  • Molecular genetics: unmasking polyglutamine triggers in neurodegenerative disease.

    James F. Gusella;Marcy E. MacDonald

Frequent Co-Authors

James F. Gusella
James F. Gusella Harvard University
Richard H. Myers
Richard H. Myers Boston University
John J. Wasmuth
John J. Wasmuth University of California, Irvine
Gillian P. Bates
Gillian P. Bates University College London
Christopher A. Ross
Christopher A. Ross Johns Hopkins University School of Medicine
Christine Ambrose
Christine Ambrose Biogen (United States)
Michael R. Hayden
Michael R. Hayden University of British Columbia
Jane S. Paulsen
Jane S. Paulsen University of Wisconsin–Madison
Andrea Novelletto
Andrea Novelletto University of Rome Tor Vergata
Michael Orth
Michael Orth University of Ulm

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