G
Gaëlle Augé
Researcher at University of Nice Sophia Antipolis
Publications - 17
Citations - 896
Gaëlle Augé is an academic researcher from University of Nice Sophia Antipolis. The author has contributed to research in topics: Mitochondrial DNA & Mitochondrion. The author has an hindex of 11, co-authored 16 publications receiving 733 citations. Previous affiliations of Gaëlle Augé include French Institute of Health and Medical Research.
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Journal ArticleDOI
A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement
Sylvie Bannwarth,Samira Ait-El-Mkadem,Annabelle Chaussenot,Emmanuelle C. Genin,Sandra Lacas-Gervais,Konstantina Fragaki,Laetitia Berg-Alonso,Yusuke Kageyama,Valérie Serre,David Moore,Annie Verschueren,Cécile Rouzier,Isabelle Le Ber,Gaëlle Augé,Charlotte Cochaud,Françoise Lespinasse,Karine Nguyen,Anne de Septenville,Alexis Brice,Patrick Yu-Wai-Man,Hiromi Sesaki,Jean Pouget,Véronique Paquis-Flucklinger +22 more
TL;DR: A large family with a late-onset phenotype including motor neuron disease, cognitive decline resembling frontotemporal dementia, cerebellar ataxia and myopathy is reported, showing that mitochondrial disease may be at the origin of some of these phenotypes.
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CHCHD10 mutations promote loss of mitochondrial cristae junctions with impaired mitochondrial genome maintenance and inhibition of apoptosis
Emmanuelle C. Genin,Morgane Plutino,Sylvie Bannwarth,Elodie Villa,Eugenia Cisneros-Barroso,Madhuparna Roy,Bernardo Ortega-Vila,Konstantina Fragaki,Françoise Lespinasse,Estefania Pinero-Martos,Gaëlle Augé,David Moore,David Moore,Florence Burté,Florence Burté,Sandra Lacas-Gervais,Yusuke Kageyama,Kie Itoh,Patrick Yu-Wai-Man,Patrick Yu-Wai-Man,Hiromi Sesaki,Jean-Ehrland Ricci,Cristofol Vives-Bauza,Véronique Paquis-Flucklinger +23 more
TL;DR: Interestingly, the expression of CHCHD10 mutant alleles inhibits apoptosis by preventing cytochrome c release, suggesting that impaired mitophagy does not contribute to mtDNA instability.
Journal ArticleDOI
Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients
Annabelle Chaussenot,Isabelle Le Ber,Samira Ait-El-Mkadem,Agnès Camuzat,Anne de Septenville,Sylvie Bannwarth,Emmanuelle C. Genin,Valérie Serre,Gaëlle Augé,Alexis Brice,Jean Pouget,Véronique Paquis-Flucklinger +11 more
TL;DR: Although the frequency of mutations is low in this series (2.6%), this work suggests that CHCHD10 mutations should be searched particularly when bulbar symptoms are present at onset, and demonstrates the implication of CH CHD10 in FTD and ALS spectrum.
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Mitochondrial defect in muscle precedes neuromuscular junction degeneration and motor neuron death in CHCHD10 S59L/+ mouse.
Emmanuelle Génin,Blandine Madji Hounoum,Sylvie Bannwarth,Konstantina Fragaki,Sandra Lacas-Gervais,Alessandra Mauri-Crouzet,Françoise Lespinasse,Julien Neveu,Baptiste Ropert,Gaëlle Augé,Charlotte Cochaud,Cynthia Lefebvre-Omar,Stéphanie Bigou,Aude Chiot,Fanny Mochel,Séverine Boillée,Christian S. Lobsiger,Delphine Bohl,Jean-Ehrland Ricci,Véronique Paquis-Flucklinger +19 more
TL;DR: The data confirm that mitochondrial deficiency associated with CHCHD10 mutations can be at the origin of MND and show that the pathological effects of the p.Ser59Leu mutation target muscle prior to NMJ and motor neurons.
Journal ArticleDOI
Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseases
Emmanuelle Génin,Sylvie Bannwarth,Françoise Lespinasse,Bernardo Ortega-Vila,Konstantina Fragaki,Kie Itoh,Elodie Villa,Sandra Lacas-Gervais,Manu Jokela,Mari Auranen,Emil Ylikallio,Alessandra Mauri-Crouzet,Henna Tyynismaa,Anna Vihola,Gaëlle Augé,Charlotte Cochaud,Hiromi Sesaki,Jean-Ehrland Ricci,Bjarne Udd,Cristofol Vives-Bauza,Véronique Paquis-Flucklinger +20 more
TL;DR: Data show that cellular phenotypes associated with p.Ser59Leu and p.Gly66Val mutations in CHCHD10 are different; loss of MICOS complex integrity and mitochondrial dysfunction, but not TDP-43 mitochondrial localization, being likely essential to develop a severe motor neuron disease.