Ontology highlight
ABSTRACT:
SUBMITTER: Yamanaka K
PROVIDER: S-EPMC307689 | biostudies-literature | 2003 Dec
REPOSITORIES: biostudies-literature
Yamanaka Koji K Vande Velde Christine C Eymard-Pierre Eleonore E Bertini Enrico E Boespflug-Tanguy Odile O Cleveland Don W DW
Proceedings of the National Academy of Sciences of the United States of America 20031210 26
Mutations in ALS2, carrying three putative guanine exchange factor (GEF) domains, are causative for a juvenile, autosomal recessive form of amyotrophic lateral sclerosis (ALS), primary lateral sclerosis, and infantile-ascending hereditary spastic paralysis. Endogenous ALS2 is shown here to be enriched in nervous tissue and to be peripherally bound to the cytoplasmic face of endosomal membranes, an association that requires the amino-terminal "RCC1 (regulator of chromatin condensation)-like" GEF ...[more]