The structural and molecular biology of type III galactosemia
نویسندگان
چکیده
منابع مشابه
the investigation of the relationship between type a and type b personalities and quality of translation
چکیده ندارد.
1. Biochemistry, molecular biology and molecular genetics of galactosemia
Galactosemia is an autosomal recessive disorder of Galactose metabolism, characterized by inability to metabolize galactose. Three enzymes are principally involved in the metabolic conversion of galactose to glucose: a galactose specific kinase (GALK), galactose-1-phosphate uridyl transferase (GALT) and uridine diphosphate galactose-4-epimerase (GALE). On the basis of defective enzyme the disea...
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15 صفحه اولMolecular structure of human galactokinase: implications for type II galactosemia.
Galactokinase functions in the Leloir pathway for galactose metabolism by catalyzing the MgATP-dependent phosphorylation of the C-1 hydroxyl group of alpha-D-galactose. The enzyme is known to belong to the GHMP superfamily of small molecule kinases and has attracted significant research attention for well over 40 years. Approximately 20 mutations have now been identified in human galactokinase,...
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ژورنال
عنوان ژورنال: IUBMB Life (International Union of Biochemistry and Molecular Biology: Life)
سال: 2006
ISSN: 1521-6543,1521-6551
DOI: 10.1080/15216540600644846