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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Bibliographic Details
Main Authors: Karen M Vernau, Jonathan A Runstadler, Emily A Brown, Jessie M Cameron, Heather J Huson, Robert J Higgins, Cameron Ackerley, Beverly K Sturges, Peter J Dickinson, Birgit Puschner, Cecilia Giulivi, G Diane Shelton, Brian H Robinson, Salvatore DiMauro, Andrew W Bollen, Danika L Bannasch
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2013-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3587633?pdf=render

Internet

http://europepmc.org/articles/PMC3587633?pdf=render

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