Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation

BACKGROUND: Spinocerebellar ataxia type 28 (SCA28) is a dominantly inherited neurodegenerative disease caused by pathogenic variants in AFG3L2. The AFG3L2 protein is a subunit of mitochondrial m-AAA complexes involved in protein quality control. Objective of this study was to determine the molecular...

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Publicado en:J Med Genet
Main Authors: Tulli, Susanna, Del Bondio, Andrea, Baderna, Valentina, Mazza, Davide, Codazzi, Franca, Pierson, Tyler Mark, Ambrosi, Alessandro, Nolte, Dagmar, Goizet, Cyril, Toro, Camilo, Baets, Jonathan, Deconinck, Tine, DeJonghe, Peter, Mandich, Paola, Casari, Giorgio, Maltecca, Francesca
Formato: Artigo
Idioma:Inglês
Publicado: BMJ Publishing Group 2019
Assuntos:
Neurogenetics
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6678042/
https://ncbi.nlm.nih.gov/pubmed/30910913
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2018-105766
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