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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...
Autores principales: | Suzuki, Kaoru, Yamada, Kenichiro, Fukuhara, Yayoi, Tsuji, Ai, Shibata, Katsumi, Wakamatsu, Nobuaki |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2017
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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 |
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