Auteurs
Jacquier A - Buhler E - Schäfer MK - Bohl D - Blanchard S - Beclin C - Haase G
Journal
Annals of neurology
Abstract
Recessive mutations in alsin, a guanine-nucleotide exchange factor for the GTPases Rab5 and Rac1, cause juvenile amyotrophic lateral sclerosis (ALS2) and related motoneuron disorders. Alsin function in motoneurons remained unclear because alsin knock-out mice do not develop overt signs of motoneuron degeneration.