147 NEW VARIANTS OF PHOSPHORYLASE KINASE DEFICIENCY
نویسندگان
چکیده
منابع مشابه
X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase alpha subunit.
Two Dutch patients with liver phosphorylase kinase (PhK) deficiency were studied for abnormalities in the PhK liver alpha (alpha L) subunit mRNA by reversed-transcribed-PCR (RT-PCR) and RNase protection assays. One patient, belonging to a large Dutch family that expresses X-linked liver PhK deficiency, had a C3614T mutation in the PhK alpha L coding sequence. The C3614T mutation leads to replac...
متن کاملX-Linked Liver Phosphorylase Kinase Deficiency Is Associated with Mutations in the Human Liver Phosphorylase Kinase a Subunit
متن کامل
Liver Phosphorylase Kinase
a deficiency of liver phosphorylase kinase, causing a lack of active glycogen phosphorylase, although total phosphorylase is normal. The intravenous injection of glucagon caused a rapid activation of cyclic AMP-dependent protein kinase in the liver, but no increase in either phosphorylase kinase or phosphorylase a activity. Although total glycogen synthase activity in the livers of affected rat...
متن کاملLiver Glycogen Phosphorylase Kinase
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 ...
متن کاملCardiac Phosphorylase Kinase
We have documented previously that although the phosphorylation of the p subunit of cardiac phosphorylase kinase plays a major role in activation of the enzyme, enzyme activity is also modulated by either CAMP-dependent or CAMP-independent phosphorylation of the a’ subunit (Sul, H. S., Cooper R. H., Whitehouse s., and Walsh D. A. (1982) J. Biol. Chem. 257, 3484-3490). This paper reports that de...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1986
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-198610000-00202