Ontology highlight
ABSTRACT:
SUBMITTER: Kikuchi H
PROVIDER: S-EPMC1458691 | biostudies-literature | 2006 Apr
REPOSITORIES: biostudies-literature
Kikuchi Hitoshi H Almer Gabriele G Yamashita Satoshi S Guégan Christelle C Nagai Makiko M Xu Zuoshang Z Sosunov Alexander A AA McKhann Guy M GM Przedborski Serge S
Proceedings of the National Academy of Sciences of the United States of America 20060404 15
Mutation in superoxide dismutase-1 (SOD1), which is a cause of ALS, alters the folding patterns of this protein. Accumulation of misfolded mutant SOD1 might activate endoplasmic reticulum (ER) stress pathways. Here we show that transgenic mice expressing ALS-linked SOD1 mutants exhibit molecular alterations indicative of a recruitment of ER's signaling machinery. We demonstrate by biochemical and morphological methods that mutant SOD1 accumulates inside the ER, where it forms insoluble high mole ...[more]