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.

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