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

Pub. Date : 2017

PMID : 28665968






3 Functional Relationships(s)
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1 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. Thiamine solute carrier family 19 member 3 Homo sapiens
2 These findings may bear some features of thiamine-deficient mice generated by pyrithiamine injection and a thiamine-deficient diet, suggesting that the primary cause of THMD2 could be thiamine pyrophosphate (TPP) deficiency. Thiamine solute carrier family 19 member 3 Homo sapiens
3 These results showed that acute neurodegeneration caused by thiamine deficiency is preventable in most parts, and prompt high-dose thiamine administration is critical for the treatment of THMD2. Thiamine solute carrier family 19 member 3 Homo sapiens