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Article

Thiamine Deficiency-Mediated Brain Mitochondrial Pathology in Alaskan Huskies with Mutation in SLC19A3.1.

Brain pathology (Zurich, Switzerland) - 1 Jul 2015

Vernau Karen, Napoli Eleonora, Wong Sarah, Ross-Inta Catherine, Cameron Jessie, Bannasch Danika, Bollen Andrew, Dickinson Peter, Giulivi Cecilia

Abstract excerpt

Alaskan Husky encephalopathy (AHE(1) ) is a fatal brain disease associated with a mutation in SLC19A3.1 (c.624insTTGC, c.625C>A). This gene encodes for a thiamine transporter 2 with a predominately (CNS) central nervous system distribution. Considering that brain is particularly vulnerable to thiamine deficiency because of its reliance on thiamine pyrophosphate (TPP)-dependent metabolic pathways involved in...

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Identifiers

PMID: 25117056
DOI: 10.1111/bpa.12188
PMCID: PMC4326624

Genes

SLC19A3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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