Concepedia

Mfn2 Mutations

MFN2 Mutations is a genetic alteration in the mitofusin 2 gene that disrupts mitochondrial dynamics and is primarily associated with axonal Charcot-Marie-Tooth disease type 2A.

169

Publications

16.8K

Citations

1.2K

Authors

477

Institutions

Publications per year

2017–2026

57

Parents

Publications

169

Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2

Guy A. Rouleau, P. Merel, Mohini Lutchman et al. · Nature · 1993 · 1.4K citations

, , +9

Disruption of Fusion Results in Mitochondrial Heterogeneity and Dysfunction

Hsiuchen Chen, Anne Chomyn, David C. Chan · Journal of Biological Chemistry · 2005 · 1.3K citations · Full text

, , +17

Mitofusin 2 Is Necessary for Transport of Axonal Mitochondria and Interacts with the Miro/Milton Complex

Albert Misko, Sirui Jiang, Iga Wegorzewska et al. · Journal of Neuroscience · 2010 · 634 citations · Full text

, , +17

The Charcot–Marie–Tooth type 2A gene product, Mfn2, up-regulates fuel oxidation through expression of OXPHOS system

Sara Pich, Daniel Q. Bach, Paz Briones et al. · Human Molecular Genetics · 2005 · 454 citations

, , +17

Altered Axonal Mitochondrial Transport in the Pathogenesis of Charcot-Marie-Tooth Disease from Mitofusin 2 Mutations

Robert H. Baloh, Robert E. Schmidt, Alan Pestronk et al. · Journal of Neuroscience · 2007 · 452 citations · Full text

, , +17

1–5 of 169

Authors

1.2K

  1. RH
    Robert H. Baloh

    Washington University in St. Louis, United States

    8 publications · 1.8K citations

    8

    h-index

  2. ME
    Michael E. Shy

    Wayne State University, United States

    8 publications · 1.2K citations

    8

    h-index

  3. AC
    Arnaud Chevrollier

    Inserm, France

    8 publications · 612 citations

    8

    h-index

  4. DB
    Dominique Bonneau

    Inserm, France

    7 publications · 374 citations

    7

    h-index

  5. SZ
    Stephan Züchner

    University of Miami, United States

    6 publications · 903 citations

    6

    h-index

1–5 of 1.2K

Institutions

477

  1. Inserm

    Paris, France

    14 h-index

    112 publications

    22.2K citations

  2. Washington University in St. Louis

    St Louis, United States

    12 h-index

    55 publications

    4.7K citations

  3. Centre National de la Recherche Scientifique

    Paris, France

    9 h-index

    63 publications

    4.7K citations

  4. Université d'Angers

    Angers, France

    7 h-index

    55 publications

    2.3K citations

  5. Cedars-Sinai Medical Center

    Los Angeles, United States

    7 h-index

    17 publications

    3.2K citations

  6. University College London

    London, United Kingdom

    7 h-index

    47 publications

    5.3K citations

  7. Fondazione IRCCS Istituto Neurologico Carlo Besta

    Milan, Italy

    6 h-index

    34 publications

    2.4K citations

  8. Peking University

    Beijing, China

    6 h-index

    26 publications

    697 citations

1–8 of 477

Venues

  1. PLoS ONE

    10 publications · 491 citations

    10

    h-index

  2. Journal of the Peripheral Nervous System

    JPNS · 10 publications · 251 citations

    10

    h-index

  3. Neurology

    9 publications · 878 citations

    9

    h-index

  4. Human Molecular Genetics

    8 publications · 1.6K citations

    8

    h-index

  5. Neuromuscular Disorders

    8 publications · 263 citations

    8

    h-index

1–5