ArticleNeurogenetics2010
Adenine nucleotide translocase is involved in a mitochondrial coupling defect in MFN2-related Charcot-Marie-Tooth type 2A disease.
Article in Neurogenetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 36 citations in OpenAlex.
- Digenesis in Charcot-Marie-Tooth Disease: Impact of Combined Mutations in the MFN2 and GDAP1 Genes.Journal of the peripheral nervous system : JPNS · 2025Article
- MFN1 augmentation prevents retinal degeneration in a Charcot-Marie-Tooth type 2A mouse model.iScience · 2023Article
- Players in Mitochondrial Dynamics and Female Reproduction.Frontiers in molecular biosciences · 2021Review
- Impaired Mitochondrial Mobility in Charcot-Marie-Tooth Disease.Frontiers in cell and developmental biology · 2021Article
- Mitofusins: Disease Gatekeepers and Hubs in Mitochondrial Quality Control by E3 Ligases.Frontiers in physiology · 2019Review
- Mitochondrial quality control and neurodegenerative diseases.Neuronal signaling · 2018Review
- HDAC1 localizes to the mitochondria of cardiac myocytes and contributes to early cardiac reperfusion injury.Journal of molecular and cellular cardiology · 2018Article
- Characterization of Charcot-Marie-Tooth optic neuropathy.Journal of neurology · 2017Article
- ABCD1 deletion-induced mitochondrial dysfunction is corrected by SAHA: implication for adrenoleukodystrophy.Journal of neurochemistry · 2015Article
- Mitofusin 2 is required to maintain mitochondrial coenzyme Q levels.The Journal of cell biology · 2015Article
- Article
- Dysfunctional cardiac mitochondrial bioenergetic, lipidomic, and signaling in a murine model of Barth syndrome.Journal of lipid research · 2013Article
- Metabolic Stress and Disorders Related to Alterations in Mitochondrial Fission or Fusion.Molecular and cellular pharmacology · 2013Article
- Myocardial regulation of lipidomic flux by cardiolipin synthase: setting the beat for bioenergetic efficiency.The Journal of biological chemistry · 2012Article
- Two rare human mitofusin 2 mutations alter mitochondrial dynamics and induce retinal and cardiac pathology in Drosophila.PloS one · 2012Article
- Mitochondrial fragmentation leads to intracellular acidification in Caenorhabditis elegans and mammalian cells.Molecular biology of the cell · 2010Article
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Authors and funding
11 authors at 3 institutions in 1 country.
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Abstract
Charcot-Marie-Tooth type 2A disease (CMT2A), a dominantly inherited peripheral neuropathy, is caused by mutations in MFN2, a mitochondrial fusion protein. Having previously demonstrated a mitochondrial coupling defect in CMT2A patients' fibroblasts, we here investigate mitochondrial oxygen consumption and the expression of adenine nucleotide translocase (ANT) and uncoupling proteins from eight other patients with the disease. The mitochondrial uncoupling was associated with a higher respiratory rate, essentially involving complex II proteins. Furthermore, a twofold increase in the expression of ANT led to the reduced efficiency of oxidative phosphorylation in CMT2A cells, suggesting that MFN2 plays a role in controlling ATP/ADP exchanges.
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