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...
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 |
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Format: | Article |
Language: | English |
Published: |
Elsevier
2018-11-01
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Series: | Neurobiology of Disease |
Subjects: | |
Online Access: | http://www.sciencedirect.com/science/article/pii/S0969996118303486 |
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