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Genome-wide association analysis identifies a mutation in the thiamine transporter 2 (SLC19A3) gene associated with Alaskan Husky encephalopathy

PloS One

Mar 8, 2013

Karen VernauDanika Bannasch

Abstract

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 muscl...read more

Mentioned in this Paper

Mammillary Body Structure
Carbon Monoxide Poisoning
Metabolic Process, Cellular
Thanatophoric Dysplasia, Type 1
Genome-Wide Association Study
Hemodialysis
Inborn Errors of Metabolism
Ophthalmoplegia
Study
Pathogenic Aspects
1
44
Paper Details
References
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  • Citations9
123
  • References27
  • Citations9
1

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Genome-wide association analysis identifies a mutation in the thiamine transporter 2 (SLC19A3) gene associated with Alaskan Husky encephalopathy

PloS One

Mar 8, 2013

Karen VernauDanika Bannasch

PMID: 23469184

DOI: 10.1371/journal.pone.0057195

Abstract

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 muscl...read more

Mentioned in this Paper

Mammillary Body Structure
Carbon Monoxide Poisoning
Metabolic Process, Cellular
Thanatophoric Dysplasia, Type 1
Genome-Wide Association Study
Hemodialysis
Inborn Errors of Metabolism
Ophthalmoplegia
Study
Pathogenic Aspects
1
44

Similar Papers Found In These Feeds

Membrane Transport in Heart Failure

This feed focuses on Membrane Transport proteins and their dysfunction which can lead to heart disease. Discover the latest research on Membrane Transport in Heart Failure.

Creutzfeldt-Jakob Disease

Creutzfeldt-Jakob Disease is a fatal neurodegenerative disease caused due to aggregation and accumulation of misfolded prion proteins. Here are the latest discoveries pertaining to this disease.

Related Papers

Paper Details
References
  • References27
  • Citations9
123
  • References27
  • Citations9
1
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