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

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

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...

Full description

Bibliographic Details
Main Authors: Emmanuelle C. Genin, Sylvie Bannwarth, Françoise Lespinasse, Bernardo Ortega-Vila, Konstantina Fragaki, Kie Itoh, Elodie Villa, Sandra Lacas-Gervais, Manu Jokela, Mari Auranen, Emil Ylikallio, Alessandra Mauri-Crouzet, Henna Tyynismaa, Anna Vihola, Gaelle Augé, Charlotte Cochaud, Hiromi Sesaki, Jean-Ehrland Ricci, Bjarne Udd, Cristofol Vives-Bauza, Véronique Paquis-Flucklinger
Format: Article
Language:English
Published: Elsevier 2018-11-01
Series:Neurobiology of Disease
Subjects:
CHCHD10
SMAJ
FTD-ALS
Mitochondria
TDP-43
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996118303486

Internet

http://www.sciencedirect.com/science/article/pii/S0969996118303486

Similar Items