Article
Optineurin and amyotrophic lateral sclerosis.
Geriatrics & gerontology international - 1 Jul 2013
Maruyama Hirofumi, Kawakami Hideshi
Abstract excerpt
Amyotrophic lateral sclerosis is a devastating disease, and thus it is important to identify the causative gene and resolve the mechanism of the disease. We identified optineurin as a causative gene for amyotrophic lateral sclerosis. We found three types of mutations: a homozygous deletion of exon 5, a homozygous Q398X nonsense mutation and a heterozygous E478G missense mutation within its ubiquitin-binding...
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