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

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

Abstract 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 mitof...

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Main Authors: 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, Florence Burté, Sandra Lacas‐Gervais, Yusuke Kageyama, Kie Itoh, Patrick Yu‐Wai‐Man, Hiromi Sesaki, Jean‐Ehrland Ricci, Cristofol Vives‐Bauza, Véronique Paquis‐Flucklinger
Format: Article
Language:English
Published: Springer Nature 2015-12-01
Series:EMBO Molecular Medicine
Subjects:
CHCHD10
mitochondria
mitochondrial disease
motor neuron disease
mtDNA instability
Online Access:https://doi.org/10.15252/emmm.201505496
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