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Journal of Hepatology|April 24, 2012
Methyl donor deficiency impairs fatty acid oxidation through PGC-1α hypomethylation and decreased ER-α, ERR-α, and HNF-4α in the rat liverShabnam Pooya, Sébastien Blaise, Maira Moreno Garcia, et al.
American Journal of Medical Genetics. Part A|June 11, 2015
Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT-TF variantMajida Charif, Salah Mohamed Cherif Titah, Agathe Roubertie, et al.
Journal of Cell Science|April 21, 2017
CLUH couples mitochondrial distribution to the energetic and metabolic statusJamal Wakim, David Goudenege, Rodolphe Perrot, et al.
Human Mutation|November 5, 2019
Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutationsGiulia Barcia, Marlène Rio, Zahra Assouline, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|May 24, 2019
Warburg-like effect is a hallmark of complex I assembly defectsValerie Desquiret-Dumas, Geraldine Leman, Celine Wetterwald, et al.
American Journal of Human Genetics|December 4, 2014
Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndromeEstelle Colin, Evelyne Huynh Cong, Géraldine Mollet, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 27, 2021
Improved detection of mitochondrial DNA instability in mitochondrial genome maintenance disordersCeline Bris, David Goudenège, Valerie Desquiret-Dumas, et al.
Annals of Neurology|December 26, 2021
Variants in Mitochondrial ATP Synthase Cause Variable Neurologic PhenotypesMichael Zech, Robert Kopajtich, Katja Steinbrücker, et al.
American Journal of Human Genetics|November 24, 2015
Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic NeuropathiesClaire Angebault, Pierre-Olivier Guichet, Yasmina Talmat-Amar, et al.
Journal of Inherited Metabolic Disease|May 27, 2022
A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated familiesMythily Ganapathi, Gaelle Friocourt, Naig Gueguen, et al.
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