Concepedia

Atp Synthase Deficiency

ATP Synthase Deficiency is a mitochondrial disorder characterized by impaired oxidative phosphorylation due to mutations in genes encoding components of the ATP synthase complex, leading to reduced ATP production.

163

Publications

10.3K

Citations

1.3K

Authors

388

Institutions

Publications per year

2017–2026

35

Variants

Atp Synthase Deficiency Disorder

Parents

Publications

163

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

A mouse model for mitochondrial myopathy and cardiomyopathy resulting from a deficiency in the heart/muscle isoform of the adenine nucleotide translocator

Brett H. Graham, Katrina G. Waymire, Barbara A. Cottrell et al. · Nature Genetics · 1997 · 558 citations

, , +17

Deficiency of the ADP-Forming Succinyl-CoA Synthase Activity Is Associated with Encephalomyopathy and Mitochondrial DNA Depletion

Orly Elpeleg, Chaya Miller, Eli Hershkovitz et al. · The American Journal of Human Genetics · 2005 · 313 citations · Full text

, , +14

Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency

Satoshi Sumi, Anthony M. Marinaki, Monica Arenas et al. · Human Genetics · 2002 · 268 citations

, , +13

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

Alena Čížková, Viktor Stránecký, Johannes A. Mayr et al. · Nature Genetics · 2008 · 200 citations

, , +16

1–5 of 163

Authors

1.3K

  1. JH
    J Houštěk

    Czech Academy of Sciences, Institute of Physiology, Czechia

    14 publications · 857 citations

    14

    h-index

  2. JZ
    J Zeman

    Charles University, Czechia

    7 publications · 544 citations

    7

    h-index

  3. JA
    Johannes A. Mayr

    Paracelsus Medical University, Austria

    7 publications · 607 citations

    7

    h-index

  4. HN
    Hana Nůsková

    Czech Academy of Sciences, Institute of Physiology, Czechia

    7 publications · 310 citations

    7

    h-index

  5. WS
    Wolfgang Sperl

    Paracelsus Medical University, Austria

    6 publications · 485 citations

    6

    h-index

1–5 of 1.3K

Institutions

388

  1. Czech Academy of Sciences, Institute of Physiology

    Prague, Czechia

    17 h-index

    91 publications

    5.1K citations

  2. Czech Academy of Sciences

    Prague, Czechia

    16 h-index

    76 publications

    4.5K citations

  3. Institut de Biochimie et Génétique Cellulaires

    Bordeaux, France

    10 h-index

    47 publications

    2.5K citations

  4. Charles University

    Prague, Czechia

    9 h-index

    46 publications

    4K citations

  5. Centre National de la Recherche Scientifique

    Paris, France

    9 h-index

    39 publications

    1.6K citations

  6. Institute of Biochemistry and Biophysics, Polish Academy of Sciences

    Warsaw, Poland

    8 h-index

    18 publications

    948 citations

  7. Inserm

    Paris, France

    8 h-index

    39 publications

    3.7K citations

  8. University College London

    London, United Kingdom

    7 h-index

    30 publications

    2.8K citations

1–8 of 388

Venues

  1. Journal of Biological Chemistry

    JBC · 12 publications · 622 citations

    12

    h-index

  2. Human Molecular Genetics

    7 publications · 480 citations

    7

    h-index

  3. Journal of Inherited Metabolic Disease

    JIMD · 5 publications · 134 citations

    5

    h-index

  4. Mitochondrion

    5 publications · 183 citations

    5

    h-index

  5. European Journal of Biochemistry

    EJB · 4 publications · 262 citations

    4

    h-index

1–5