Article
Familial amyotrophic lateral sclerosis is associated with a mutation in D-amino acid oxidase.
Proceedings of the National Academy of Sciences of the United States of America - 20 Apr 2010
Mitchell John, Paul Praveen, Chen Han-Jou, Morris Alex, Payling Miles, Falchi Mario, Habgood James, Panoutsou Stefania, Winkler Sabine, Tisato Veronica, Hajitou Amin, Smith Bradley, Vance Caroline, Shaw Christopher, Mazarakis Nicholas D, de Belleroche Jacqueline
Abstract excerpt
We report a unique mutation in the D-amino acid oxidase gene (R199W DAO) associated with classical adult onset familial amyotrophic lateral sclerosis (FALS) in a three generational FALS kindred, after candidate gene screening in a 14.52 cM region on chromosome 12q22-23 linked to disease. Neuronal cell lines expressing R199W DAO showed decreased viability and increased ubiquitinated aggregates compared with cells...
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