Ontology highlight
ABSTRACT:
SUBMITTER: Moore JK
PROVIDER: S-EPMC2664072 | biostudies-literature | 2009 Mar
REPOSITORIES: biostudies-literature
Moore Jeffrey K JK Sept David D Cooper John A JA
Proceedings of the National Academy of Sciences of the United States of America 20090311 13
Neurodegenerative disease in humans and mice can be caused by mutations affecting the microtubule motor dynein or its biochemical regulator, dynactin, a multiprotein complex required for dynein function (1-4). A single amino acid change, G59S, in the conserved cytoskeletal-associated protein glycine-rich (CAP-Gly) domain of the p150(glued) subunit of dynactin can cause motor neuron degeneration in humans and mice, which resembles ALS (2, 5-8). The molecular mechanism by which G59S impairs the fu ...[more]