Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase

Abstract

Classic galactosemia is a potentially lethal disease caused by the dysfunction of galactose 1-phosphate uridylyltransferase (GALT). Over 300 disease-associated GALT mutations have been reported, with the majority being missense changes, although a better understanding of their underlying molecular effects has been hindered by the lack of structural… (More)

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