Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseases.

doi:10.1016/j.nbd.2018.07.027

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Article

Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseases.

Neurobiology of disease - 1 Nov 2018

Genin Emmanuelle C, Bannwarth Sylvie, Lespinasse Françoise, Ortega-Vila Bernardo, Fragaki Konstantina, Itoh Kie, Villa Elodie, Lacas-Gervais Sandra, Jokela Manu, Auranen Mari, Ylikallio Emil, Mauri-Crouzet Alessandra, Tyynismaa Henna, Vihola Anna, Augé Gaelle, Cochaud Charlotte, Sesaki Hiromi, Ricci Jean-Ehrland, Udd Bjarne, Vives-Bauza Cristofol, Paquis-Flucklinger Véronique

Abstract excerpt

Following the involvement of CHCHD10 in FrontoTemporal-Dementia-Amyotrophic Lateral Sclerosis (FTD-ALS) clinical spectrum, a founder mutation (p.Gly66Val) in the same gene was identified in Finnish families with late-onset spinal motor neuronopathy (SMAJ). SMAJ is a slowly progressive form of spinal muscular atrophy with a life expectancy within normal range. In order to understand why the p.Ser59Leu mutation,...

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PMID: 30092269
DOI: 10.1016/j.nbd.2018.07.027
PMCID: PMC7015038

Genes

CHCHD10

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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