Literature summary for 2.7.7.12 extracted from

Rasmussen, S.A.; Daenzer, J.M.I.; MacWilliams, J.A.; Head, S.T.; Williams, M.B.; Geurts, A.M.; Schroeder, J.P.; Weinshenker, D.; Fridovich-Keil, J.L.
A galactose-1-phosphate uridylyltransferase-null rat model of classic galactosemia mimics relevant patient outcomes and reveals tissue-specific and longitudinal differences in galactose metabolism (2020), J. Inherit. Metab. Dis., 43, 518-528 .

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Organism

Organism	UniProt	Comment	Textmining
Rattus norvegicus	P43424	-	-

General Information

General Information	Comment	Organism
malfunction	classic galactosemia (CG) is a potentially lethal inborn error of metabolism, if untreated, that results from profound deficiency of galactose-1-phosphate. An uidylyltransferasegalactose-1-phosphate uridylyltransferase-null rat model of CG documentes phenotypes and defines the relationships among three key galactose metabolites in different tissues and across post-natal development	Rattus norvegicus

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Release 2023.1 (January 2023)