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High-dose thiamine prevents brain lesions and prolongs survival of Slc19a3-deficient mice

SLC19A3 deficiency, also called thiamine metabolism dysfunction syndrome-2 (THMD2; OMIM 607483), is an autosomal recessive neurodegenerative disorder caused by mutations in SLC19A3, the gene encoding thiamine transporter 2. To investigate the molecular mechanisms of neurodegeneration in SLC19A3 defi...

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Detalles Bibliográficos
Autores principales: Suzuki, Kaoru, Yamada, Kenichiro, Fukuhara, Yayoi, Tsuji, Ai, Shibata, Katsumi, Wakamatsu, Nobuaki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5493381/
https://www.ncbi.nlm.nih.gov/pubmed/28665968
http://dx.doi.org/10.1371/journal.pone.0180279