Identification of a mutation in liver glycogen phosphorylase in glycogen storage disease type VI
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چکیده
منابع مشابه
Glycogen phosphorylase and its converter enzymes in haemolysates of normal human subjects and of patients with type VI glycogen-storage disease. A study of phosphorylase kinase deficiency.
1. The properties of phosphorylase a, phosphorylase b, phosphorylase kinase and phosphorylase phosphatase present in a human haemolysate were investigated. The two forms of phosphorylase have the same affinity for glucose 1-phosphate but greatly differ in Vmax. Phosphorylase b is only partially stimulated by AMP, since, in the presence of the nucleotide, it is about tenfold less active than pho...
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Liver glycogen phosphorylase kinase was assayed by measuring the radioactivity of [y-32P]ATP incorporated into rabbit skeletal muscle phosphorylase b. Using this assay two forms of phosphorylase kinase, Kinase I and Kinase II, were pirified about 70and 130-fold, respectively, from rabbit liver cytosol by DEAE-Sephadex A50 column chromatography, ammonium sulfate fractionation, gel filtration on ...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 1998
ISSN: 1460-2083
DOI: 10.1093/hmg/7.5.865