Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders

Sylvie Bannwarth, Vincent Procaccio, Anne Sophie Lebre, +33

Journal of Medical Genetics

Mitochondrial coupling defect in Charcot–Marie–Tooth type 2A disease

Dominique Loiseau, Arnaud Chevrollier, Christophe Verny, +11

Annals of Neurology

Resveratrol Induces a Mitochondrial Complex I-dependent Increase in NADH Oxidation Responsible for Sirtuin Activation in Liver Cells

Valérie Desquiret‐Dumas, Naïg Guéguen, Géraldine Leman, +11

Journal of Biological Chemistry

Reductive StressNadh Oxidation ResponsibleBiochemistryLiver PhysiologyLipid Peroxidation +9

Loss-of-Function Mutations in WDR73 Are Responsible for Microcephaly and Steroid-Resistant Nephrotic Syndrome: Galloway-Mowat Syndrome

Estelle Colin, Evelyne Huynh Cong, Géraldine Mollet, +21

The American Journal of Human Genetics

Galloway-mowat SyndromeDisease MechanismGenetic DisorderMedicineGenetics +9

Hereditary optic neuropathies share a common mitochondrial coupling defect

Arnaud Chevrollier, Virginie Guillet, Dominique Loiseau, +12

Annals of Neurology

Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation

Christophe Verny, Naïg Guegen, Valérie Desquiret‐Dumas, +9

Mitochondrion

Mitochondrial MyopathyRare DiseasesKinesiologyMitochondrial FunctionGenetic Disorder +5

Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K)

Julien Cassereau, Arnaud Chevrollier, Naïg Guéguen, +11

Neurogenetics

Mendelian DisorderMitochondrial FunctionGenetic DisorderGeneticsPathogenesis +6

The metabolomic signature of Leber’s hereditary optic neuropathy reveals endoplasmic reticulum stress

Juan Manuel Chao de la Barca, Gilles Simard, Patrizia Amati‐Bonneau, +20

Brain

GeneticsMetabolomic ProfilingOptic NerveMitochondrial BiogenesisLeber Hereditary Optic Neuropathy +19

Idebenone increases mitochondrial complex I activity in fibroblasts from LHON patients while producing contradictory effects on respiration

Claire Angebault, Naïg Guéguen, Valérie Desquiret‐Dumas, +11

BMC Research Notes

OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database

Bastien Le Roux, Guy Lenaers, Xavier Zanlonghi, +11

Orphanet Journal of Rare Diseases