Concepedia

Pex Gene Mutations

PEX Gene Mutations is a genetic alteration in one or more of the PEX genes that encode peroxins, the essential proteins required for the biogenesis and functional integrity of peroxisomes, leading to impaired organelle assembly and metabolic dysfunction characteristic of peroxisomal biogenesis disorders.

181

Publications

11.4K

Citations

839

Authors

308

Institutions

Publications per year

2017–2026

31

Parents

Publications

181

Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata

Nancy Braverman, Gary Steel, Cassandra Obie et al. · Nature Genetics · 1997 · 445 citations

, , +6

Pex/PEX tissue distribution and evidence for a deletion in the 3' region of the Pex gene in X-linked hypophosphatemic mice.

Laurent Beck, Youssouf Soumounou, Josée Martel et al. · Journal of Clinical Investigation · 1997 · 291 citations · Full text

, , +15

Peroxisome Synthesis in the Absence of Preexisting Peroxisomes

Sarah T. South, Stephen J. Gould · The Journal of Cell Biology · 1999 · 243 citations · Full text

, , +15

Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders

Bernadette E. Reuber, Emily L. Germain‐Lee, Cynthia S. Collins et al. · Nature Genetics · 1997 · 235 citations

, , +13

Mitochondrial Alterations Caused by Defective Peroxisomal Biogenesis in a Mouse Model for Zellweger Syndrome (PEX5 Knockout Mouse)

Eveline Baumgart‐Vogt, Ilse Vanhorebeek, Markus Grabenbauer et al. · American Journal Of Pathology · 2001 · 211 citations · Full text

, , +17

1–5 of 181

Authors

839

  1. RJ
    Ronald J. A. Wanders

    University of Amsterdam, Netherlands

    33 publications · 1.6K citations

    23

    h-index

  2. NS
    Nobuyuki Shimozawa

    Gifu University, Japan

    24 publications · 951 citations

    20

    h-index

  3. HR
    Hans R. Waterham

    University of Amsterdam, Netherlands

    23 publications · 1.4K citations

    18

    h-index

  4. YF
    Yukio Fujiki

    Kyushu University, Japan

    17 publications · 621 citations

    15

    h-index

  5. AB
    Ann B. Moser

    Kennedy Krieger Institute, United States

    14 publications · 1.4K citations

    14

    h-index

1–5 of 839

Institutions

308

  1. University of Amsterdam

    Amsterdam, The Netherlands

    23 h-index

    131 publications

    8.5K citations

  2. Johns Hopkins University

    Baltimore, United States

    23 h-index

    103 publications

    12.8K citations

  3. Kennedy Krieger Institute

    Baltimore, United States

    21 h-index

    51 publications

    4.4K citations

  4. Gifu University

    Gifu City, Japan

    21 h-index

    93 publications

    3.6K citations

  5. Amsterdam UMC Location University of Amsterdam

    Amsterdam, The Netherlands

    16 h-index

    81 publications

    5.5K citations

  6. Johns Hopkins Medicine

    Baltimore, United States

    14 h-index

    46 publications

    7.3K citations

  7. Kyushu University

    Fukuoka, Japan

    14 h-index

    54 publications

    2.1K citations

  8. Emma Kinderziekenhuis

    Amsterdam, Netherlands

    12 h-index

    40 publications

    2.1K citations

1–8 of 308

Venues

  1. Human Mutation

    13 publications · 818 citations

    13

    h-index

  2. The American Journal of Human Genetics

    AJHG · 10 publications · 1K citations

    10

    h-index

  3. Biochemical and Biophysical Research Communications

    BBRC · 7 publications · 169 citations

    8

    h-index

  4. Human Molecular Genetics

    8 publications · 829 citations

    8

    h-index

  5. Molecular Biology of the Cell

    MBC · 7 publications · 412 citations

    7

    h-index

1–5