Concepedia

Sqstm1 Mutations

SQSTM1 Mutations is a genetic alteration in the sequestosome 1 (SQSTM1) gene that impairs ubiquitin-mediated signaling and is pathologically associated with increased osteoclast activity in Paget Disease of Bone.

118

Publications

7.5K

Citations

913

Authors

377

Institutions

Publications per year

2017–2026

44

Parents

Publications

118

<emph type="ital">SQSTM1</emph> Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

Faisal Fecto · Archives of Neurology · 2011 · 643 citations

, , +15

Recurrent Mutation of the Gene Encoding sequestosome 1 (SQSTM1/p62) in Paget Disease of Bone

Nancy Laurin, Jacques P. Brown, Jean Morissette et al. · The American Journal of Human Genetics · 2002 · 556 citations · Full text

, , +16

Domain-specific mutations in sequestosome 1 (SQSTM1) cause familial and sporadic Paget's disease

Lynne J. Hocking · Human Molecular Genetics · 2002 · 345 citations · Full text

, , +17

<i>SQSTM1</i> mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

Elisa Rubino, Innocenzo Rainero, Adriano Chiò et al. · Neurology · 2012 · 281 citations · Full text

, , +16

<i>SQSTM1</i>Mutations in French Patients With Frontotemporal Dementia or Frontotemporal Dementia With Amyotrophic Lateral Sclerosis

Isabelle Le Ber · JAMA Neurology · 2013 · 184 citations · Full text

, , +17

1–5 of 118

Authors

913

  1. RL
    Robert Layfield

    University of Nottingham, United Kingdom

    17 publications · 1.1K citations

    16

    h-index

  2. SH
    Stuart H. Ralston

    University of Edinburgh, United Kingdom

    13 publications · 781 citations

    13

    h-index

  3. MS
    Mark S. Searle

    University of Nottingham, United Kingdom

    13 publications · 891 citations

    13

    h-index

  4. JP
    Jacques P. Brown

    Université Laval, Canada

    12 publications · 1K citations

    11

    h-index

  5. LM
    Laëtitia Michou

    Université Laval, Canada

    10 publications · 327 citations

    10

    h-index

1–5 of 913

Institutions

377

  1. University of Nottingham

    Nottingham, United Kingdom

    16 h-index

    75 publications

    5.2K citations

  2. Sir Charles Gairdner Hospital

    Perth, Australia

    11 h-index

    25 publications

    1K citations

  3. University of Auckland

    Auckland, New Zealand

    10 h-index

    34 publications

    1.4K citations

  4. Université Laval

    Québec, Canada

    10 h-index

    43 publications

    1.2K citations

  5. The University of Western Australia

    Perth, Australia

    9 h-index

    21 publications

    734 citations

  6. University of Edinburgh

    Edinburgh, United Kingdom

    9 h-index

    35 publications

    1.9K citations

  7. Inserm

    Paris, France

    8 h-index

    23 publications

    1.3K citations

  8. University of Turin

    Turin, Italy

    8 h-index

    32 publications

    4.6K citations

1–8 of 377

Venues

  1. Journal of Bone and Mineral Research

    JBMR · 22 publications · 1.5K citations

    21

    h-index

  2. Autophagy

    8 publications · 593 citations

    8

    h-index

  3. Calcified Tissue International

    6 publications · 238 citations

    6

    h-index

  4. Neurobiology of Aging

    5 publications · 179 citations

    5

    h-index

  5. Bone

    4 publications · 127 citations

    4

    h-index

1–5