Article
CHCHD10 mutations promote loss of mitochondrial cristae junctions with impaired mitochondrial genome maintenance and inhibition of apoptosis.
EMBO molecular medicine - 1 Jan 2016
Genin Emmanuelle C, Plutino Morgane, Bannwarth Sylvie, Villa Elodie, Cisneros-Barroso Eugenia, Roy Madhuparna, Ortega-Vila Bernardo, Fragaki Konstantina, Lespinasse Françoise, Pinero-Martos Estefania, Augé Gaëlle, Moore David, Burté Florence, Lacas-Gervais Sandra, Kageyama Yusuke, Itoh Kie, Yu-Wai-Man Patrick, Sesaki Hiromi, Ricci Jean-Ehrland, Vives-Bauza Cristofol, Paquis-Flucklinger Véronique
Abstract excerpt
CHCHD10-related diseases include mitochondrial DNA instability disorder, frontotemporal dementia-amyotrophic lateral sclerosis (FTD-ALS) clinical spectrum, late-onset spinal motor neuropathy (SMAJ), and Charcot-Marie-Tooth disease type 2 (CMT2). Here, we show that CHCHD10 resides with mitofilin, CHCHD3 and CHCHD6 within the "mitochondrial contact site and cristae organizing system" (MICOS) complex. CHCHD10...
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