Article
Genome-wide association analysis identifies a mutation in the thiamine transporter 2 (SLC19A3) gene associated with Alaskan Husky encephalopathy.
PloS one - 1 Jan 2013
Vernau Karen M, Runstadler Jonathan A, Brown Emily A, Cameron Jessie M, Huson Heather J, Higgins Robert J, Ackerley Cameron, Sturges Beverly K, Dickinson Peter J, Puschner Birgit, Giulivi Cecilia, Shelton G Diane, Robinson Brian H, DiMauro Salvatore, Bollen Andrew W, Bannasch Danika L
Abstract excerpt
Alaskan Husky Encephalopathy (AHE) has been previously proposed as a mitochondrial encephalopathy based on neuropathological similarities with human Leigh Syndrome (LS). We studied 11 Alaskan Husky dogs with AHE, but found no abnormalities in respiratory chain enzyme activities in muscle and liver, or mutations in mitochondrial or nuclear genes that cause LS in people. A genome wide association study was...
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