Ontology highlight
ABSTRACT:
SUBMITTER: Rudnick ND
PROVIDER: S-EPMC5625902 | biostudies-literature | 2017 Sep
REPOSITORIES: biostudies-literature
Rudnick Noam D ND Griffey Christopher J CJ Guarnieri Paolo P Gerbino Valeria V Wang Xueyong X Piersaint Jason A JA Tapia Juan Carlos JC Rich Mark M MM Maniatis Tom T
Proceedings of the National Academy of Sciences of the United States of America 20170913 39
Mutations in autophagy genes can cause familial and sporadic amyotrophic lateral sclerosis (ALS). However, the role of autophagy in ALS pathogenesis is poorly understood, in part due to the lack of cell type-specific manipulations of this pathway in animal models. Using a mouse model of ALS expressing mutant superoxide dismutase 1 (SOD1<sup>G93A</sup>), we show that motor neurons form large autophagosomes containing ubiquitinated aggregates early in disease progression. To investigate whether th ...[more]