Fiche publication
Date publication
décembre 2015
Journal
Annals of neurology
Auteurs
Membres identifiés du Cancéropôle Est :
Pr THAUVIN-ROBINET Christel
Tous les auteurs :
Pilliod J, Moutton S, Lavie J, Maurat E, Hubert C, Bellance N, Anheim M, Forlani S, Mochel F, N'Guyen K, Thauvin-Robinet C, Verny C, Milea D, Lesca G, Koenig M, Rodriguez D, Houcinat N, Van-Gils J, Durand CM, Guichet A, Barth M, Bonneau D, Convers P, Maillart E, Guyant-Marechal L, Hannequin D, Fromager G, Afenjar A, Chantot-Bastaraud S, Valence S, Charles P, Berquin P, Rooryck C, Bouron J, Brice A, Lacombe D, Rossignol R, Stevanin G, Benard G, Burglen L, Durr A, Goizet C, Coupry I
Lien Pubmed
Résumé
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is caused by mutations in the SACS gene. SACS encodes sacsin, a protein whose function remains unknown, despite the description of numerous protein domains and the recent focus on its potential role in the regulation of mitochondrial physiology. This study aimed to identify new mutations in a large population of ataxic patients and to functionally analyze their cellular effects in the mitochondrial compartment.
Mots clés
Adolescent, Adult, Biomarkers, Cell Culture Techniques, Child, Cohort Studies, Female, Fibroblasts, Heat-Shock Proteins, genetics, Humans, Male, Middle Aged, Mitochondria, metabolism, Muscle Spasticity, diagnosis, Mutation, Spinocerebellar Ataxias, congenital, Young Adult
Référence
Ann Neurol. 2015 12;78(6):871-86
