Article
A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2.
Nature genetics - 1 Oct 2001
Hadano S, Hand C K, Osuga H, Yanagisawa Y, Otomo A, Devon R S, Miyamoto N, Showguchi-Miyata J, Okada Y, Singaraja R, Figlewicz D A, Kwiatkowski T, Hosler B A, Sagie T, Skaug J, Nasir J, Brown R H, Scherer S W, Rouleau G A, Hayden M R, Ikeda J E
Abstract excerpt
Amyotrophic lateral sclerosis 2 (ALS2) is an autosomal recessive form of juvenile ALS and has been mapped to human chromosome 2q33. Here we report the identification of two independent deletion mutations linked to ALS2 in the coding exons of the new gene ALS2. These deletion mutations result in frameshifts that generate premature stop codons. ALS2 is expressed in various tissues and cells, including neurons...
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