Concepedia

Oxphos Deficiency

OXPHOS Deficiency is a pathophysiological condition characterized by impaired mitochondrial oxidative phosphorylation, the primary biochemical mechanism for cellular ATP production, resulting from genetic or acquired disruptions in the electron transport chain complexes that distinguish it from other forms of metabolic dysfunction.

294

Publications

20.4K

Citations

2.5K

Authors

733

Institutions

Publications per year

2017–2026

150

Parents

Publications

294

Mitochondrial Genetics: A Paradigm for Aging and Degenerative Diseases?

Douglas C. Wallace · Science · 1992 · 1.3K citations

, , +17

Spastic Paraplegia and OXPHOS Impairment Caused by Mutations in Paraplegin, a Nuclear-Encoded Mitochondrial Metalloprotease

Giorgio Casari, Maurizio De Fusco, Sonia Ciarmatori et al. · Cell · 1998 · 829 citations · Full text

, , +16

Imp2 controls oxidative phosphorylation and is crucial for preserving glioblastoma cancer stem cells

Michalina Janiszewska, Mario L. Suvà, Nicolò Riggi et al. · Genes & Development · 2012 · 458 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

Impaired Mitochondrial Biogenesis in Adipose Tissue in Acquired Obesity

Sini Heinonen, Jana Buzková, Maheswary Muniandy et al. · Diabetes · 2015 · 367 citations

, , +17

1–5 of 294

Authors

2.5K

  1. RJ
    Richard J. Rodenburg

    Radboud University Nijmegen, Netherlands

    15 publications · 694 citations

    14

    h-index

  2. MZ
    Massimo Zeviani

    Fondazione IRCCS Istituto Neurologico Carlo Besta, Italy

    11 publications · 1.8K citations

    11

    h-index

  3. AM
    Arnold Münnich

    Inserm, France

    8 publications · 608 citations

    8

    h-index

  4. HJ
    Hubert J.M. Smeets

    Maastricht University, Netherlands

    7 publications · 281 citations

    7

    h-index

  5. LN
    Leo Nijtmans

    Radboud University Nijmegen, Netherlands

    6 publications · 401 citations

    6

    h-index

1–5 of 2.5K

Institutions

733

  1. Radboud University Nijmegen

    Nijmegen, The Netherlands

    20 h-index

    153 publications

    6.9K citations

  2. Radboud University Medical Center

    Nijmegen, The Netherlands

    18 h-index

    124 publications

    6K citations

  3. Centre National de la Recherche Scientifique

    Paris, France

    17 h-index

    69 publications

    3.9K citations

  4. Inserm

    Paris, France

    17 h-index

    118 publications

    7.7K citations

  5. Newcastle University

    Newcastle upon Tyne, United Kingdom

    12 h-index

    84 publications

    3.7K citations

  6. Wellcome Centre for Mitochondrial Research

    Newcastle upon Tyne, United Kingdom

    12 h-index

    76 publications

    3.1K citations

  7. Harvard University

    Cambridge, United States

    11 h-index

    31 publications

    3.4K citations

  8. University of Miami

    Coral Gables, United States

    10 h-index

    46 publications

    3.9K citations

1–8 of 733

Venues

  1. Human Molecular Genetics

    19 publications · 1.9K citations

    18

    h-index

  2. Scientific Reports

    11 publications · 476 citations

    11

    h-index

  3. PLoS ONE

    11 publications · 702 citations

    11

    h-index

  4. Mitochondrion

    9 publications · 370 citations

    9

    h-index

  5. Human Mutation

    9 publications · 292 citations

    9

    h-index

1–5