Article
Mutant SOD1 protein increases Nav1.3 channel excitability.
Journal of biological physics - 1 Jun 2016
Kubat Öktem Elif, Mruk Karen, Chang Joshua, Akin Ata, Kobertz William R, Brown Robert H
Abstract excerpt
Amyotrophic lateral sclerosis (ALS) is a lethal paralytic disease caused by the degeneration of motor neurons in the spinal cord, brain stem, and motor cortex. Mutations in the gene encoding copper/zinc superoxide dismutase (SOD1) are present in ~20% of familial ALS and ~2% of all ALS cases. The most common SOD1 gene mutation in North America is a missense mutation substituting valine for alanine (A4V). In this...
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