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...

Full description

Saved in:
Bibliographic Details
Published in: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
Format: Artigo
Language:Inglês
Published: BMJ Publishing Group 2019
Subjects:
Neurogenetics
Online Access: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
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items