Genome-Wide Association Analysis Identifies a Mutation in the Thiamine Transporter 2 (SLC19A3) Gene Associated with Alaskan Husky Encephalopathy

Genome-Wide Association Analysis Identifies a Mutation in the Thiamine Transporter 2 (SLC19A3) Gene Associated with Alaskan Husky Encephalopathy

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,...

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Main Authors: Runstadler, Jonathan (Contributor), Vernau, Karen M. (Author), Brown, Emily A. (Author), Cameron, Jessie M. (Author), Huson, Heather J. (Author), Higgins, Robert J. (Author), Ackerley, Cameron (Author), Sturges, Beverly K. (Author), Dickinson, Peter J. (Author), Puschner, Birgit (Author), Giulivi, Cecilia (Author), Shelton, G. Diane (Author), Robinson, Brian H. (Author), DiMauro, Salvatore (Author), Bollen, Andrew W. (Author), Bannasch, Danika L. (Author)
Other Authors: Massachusetts Institute of Technology. Department of Biological Engineering (Contributor)
Format: Article
Language:English
Published: Public Library of Science, 2013-04-26T15:13:07Z.
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