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Mitochondrion|August 25, 2012
The human MSH5 (MutSHomolog 5) protein localizes to mitochondria and protects the mitochondrial genome from oxidative damageSylvie Bannwarth, Alexia Figueroa, Konstantina Fragaki, et al.
Human Molecular Genetics|March 24, 2017
A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactionsCécile Rouzier, David Moore, Cécile Delorme, et al.
Journal of the American Society of Nephrology : JASN|September 11, 2016
Targeting eIF5A Hypusination Prevents Anoxic Cell Death through Mitochondrial Silencing and Improves Kidney Transplant OutcomeNicolas Melis, Isabelle Rubera, Marc Cougnon, et al.
Mitochondrion|December 12, 2022
UQCRC2-related mitochondrial complex III deficiency, about 7 patientsClaire Bansept, Pauline Gaignard, Elise Lebigot, et al.
Mitochondrion|March 1, 2016
Inactivation of Pif1 helicase causes a mitochondrial myopathy in miceSylvie Bannwarth, Laetitia Berg-Alonso, Gaëlle Augé, et al.
Mitochondrion|February 20, 2026
From variant interpretation to structural discovery: A new Zinc-binding domain in PARS2Célia Hoebeke, Camille Engel, Claire-Marine Berat, et al.
Human Mutation|May 19, 2020
Single-fiber studies for assigning pathogenicity of eight mitochondrial DNA variants associated with mitochondrial diseasesElamine Zereg, Annabelle Chaussenot, Godelieve Morel, et al.
European Journal of Human Genetics : EJHG|August 8, 2013
Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohortCécile Rouzier, Annabelle Chaussenot, Valérie Serre, et al.
Acta Neuropathologica|October 20, 2020
Accumulation of amyloid precursor protein C-terminal fragments triggers mitochondrial structure, function, and mitophagy defects in Alzheimer's disease models and human brainsLoan Vaillant-Beuchot, Arnaud Mary, Raphaëlle Pardossi-Piquard, et al.
Neurobiology of Disease|August 10, 2018
Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseasesEmmanuelle C Genin, Sylvie Bannwarth, Françoise Lespinasse, et al.
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