Genetic defects of thiamine transport and metabolism: A review of clinical phenotypes, genetics, and functional studies
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12125
Abstract: Thiamine is a crucial cofactor involved in the maintenance of carbohydrate metabolism and participates in multiple cellular metabolic processes within the cytosol, mitochondria, and peroxisomes. Currently, four genetic defects have been described causing impairment of… read more here.
Keywords: thiamine transport; metabolism; genetic defects; genetics ... See more keywords
Impairment of Thiamine Transport at the GUT-BBB-AXIS Contributes to Wernicke’s Encephalopathy
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DOI: 10.1007/s12035-017-0811-0
Abstract: Wernicke’s encephalopathy, a common neurological disease, is caused by thiamine (vitamin B1) deficiency. Neuropathy resulting from thiamine deficiency is a hallmark of Wernicke-Korsakoff syndrome in chronic alcohol users. The underlying mechanisms of this deficiency and… read more here.
Keywords: thiamine transport; gut; axis; thiamine ... See more keywords