CHCHD10 mutations promote loss of mitochondrial cristae junctions with impaired mitochondrial genome maintenance and inhibition of apoptosis

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, CHC...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2015
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4718158/
https://www.ncbi.nlm.nih.gov/pubmed/26666268
http://dx.doi.org/10.15252/emmm.201505496

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