Concepedia

Polyglutamine Diseases

Polyglutamine Diseases is a class of inherited neurodegenerative disorders characterized by the abnormal expansion of CAG trinucleotide repeats within specific genes, leading to the accumulation of misfolded proteins containing expanded polyglutamine tracts that result in progressive neuronal dysfunction and cell death.

1.6K

Publications

171.9K

Citations

7.7K

Authors

1.7K

Institutions

Publications per year

2017–2026

276

Variants

Polyglutamine DisordersPolyq DiseasesPolyq Disorders

Parents

Publications

1.6K

Aggregation of Huntingtin in Neuronal Intranuclear Inclusions and Dystrophic Neurites in Brain

Marian DiFiglia, Ellen Sapp, Kathryn Chase et al. · Science · 1997 · 2.9K citations

, , +16

Inhibition of mTOR induces autophagy and reduces toxicity of polyglutamine expansions in fly and mouse models of Huntington disease

Brinda Ravikumar, Zdenek Berger, J. Eric Davies et al. · Nature Genetics · 2004 · 2.3K citations

, , +17

Formation of Neuronal Intranuclear Inclusions Underlies the Neurological Dysfunction in Mice Transgenic for the HD Mutation

Stephen W. Davies, Mark Turmaine, Barbara A. Cozens et al. · Cell · 1997 · 2.2K citations · Full text

, , +17

Impairment of the Ubiquitin-Proteasome System by Protein Aggregation

Neil Bence, Roopal M. Sampat, Ron R. Kopito · Science · 2001 · 2.2K citations

, , +17

Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channel

Olga Zhuchenko, Jennifer M. Bailey, Penelope E. Bonnen et al. · Nature Genetics · 1997 · 1.6K citations

, , +16

1–5 of 1.6K

Authors

7.7K

  1. HL
    Henry L. Paulson

    University of Michigan, United States

    47 publications · 8.8K citations

    39

    h-index

  2. MR
    Michael R. Hayden

    University of British Columbia, Canada

    39 publications · 8K citations

    33

    h-index

  3. CA
    Christopher A. Ross

    Johns Hopkins University, United States

    34 publications · 7.5K citations

    31

    h-index

  4. GP
    Gillian P. Bates

    King's College London, United Kingdom

    37 publications · 12.1K citations

    30

    h-index

  5. HY
    Huda Y. Zoghbi

    Baylor College of Medicine, United States

    34 publications · 5.9K citations

    28

    h-index

1–5 of 7.7K

Institutions

1.7K

  1. Howard Hughes Medical Institute

    Chevy Chase, United States

    52 h-index

    143 publications

    23.3K citations

  2. Inserm

    Paris, France

    51 h-index

    348 publications

    45.3K citations

  3. Centre National de la Recherche Scientifique

    Paris, France

    48 h-index

    292 publications

    35.1K citations

  4. Johns Hopkins University

    Baltimore, United States

    46 h-index

    234 publications

    41.5K citations

  5. Massachusetts General Hospital

    Boston, United States

    44 h-index

    299 publications

    58.3K citations

  6. Harvard University

    Cambridge, United States

    40 h-index

    203 publications

    28.7K citations

  7. Baylor College of Medicine

    Houston, United States

    39 h-index

    159 publications

    30.7K citations

  8. Johns Hopkins Medicine

    Baltimore, United States

    39 h-index

    188 publications

    30.6K citations

1–8 of 1.7K

Venues

  1. Human Molecular Genetics

    230 publications · 32.9K citations

    107

    h-index

  2. Proceedings of the National Academy of Sciences

    PNAS · 84 publications · 19.6K citations

    68

    h-index

  3. Journal of Biological Chemistry

    JBC · 98 publications · 10.7K citations

    63

    h-index

  4. Journal of Neuroscience

    76 publications · 10.3K citations

    57

    h-index

  5. PLoS ONE

    63 publications · 2.9K citations

    36

    h-index

1–5