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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書誌詳細
出版年:EMBO Mol Med
主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: John Wiley and Sons Inc. 2015
主題:
Research Articles
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4718158/
https://ncbi.nlm.nih.gov/pubmed/26666268
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.15252/emmm.201505496
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