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

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 thi...

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Publicat a:Brain Pathol
Autors principals: Vernau, Karen, Napoli, Eleonora, Wong, Sarah, Ross‐Inta, Catherine, Cameron, Jessie, Bannasch, Danika, Bollen, Andrew, Dickinson, Peter, Giulivi, Cecilia
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2014
Matèries:
Research Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4326624/
https://ncbi.nlm.nih.gov/pubmed/25117056
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/bpa.12188
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