Phosphoglucomutase. V. Multiple forms of phosphoglucomutase.

Phosphoglucomutase. I. Purification and Properties of Phosphoglucomutase from Escherichia Coli.

Multiple phenotypes in phosphoglucomutase 1 deficiency.

BACKGROUND Congenital disorders of glycosylation are genetic syndromes that result in impaired glycoprotein production. We evaluated patients who had a novel recessive disorder of glycosylation, with a range of clinical manifestations that included hepatopathy, bifid uvula, malignant hyperthermia, hypogonadotropic hypogonadism, growth retardation, hypoglycemia, myopathy, dilated cardiomyopathy,...

Assay of Tissue Phosphoglucomutase

Although several values for tissue phosphoglucomutase activites are recorded in the literature, such determinations have been performed without the addition of the coenzyme, a-glucose 1,6-diphosphate (l-3), and occasionally without explicit designation of the optimal concentrations of either or both of the known activators, Mg++ and amino acid (2, 3). Although some of these latter factors have ...

Kinetics of Phosphoglucomutase Action*

The mechanism of activation of the phosphoglucomutase reaction by the coenzyme, cu-glucose 1,6-diphosphate, was studied by Leloir et al. (1)) Sutherland et al. (2)) and Jagannathan and Luck (3). In 1954, Najjar and Pullman (4) showed that the active, phosphorylated form of the enzyme interacted with glucose l-phosphate to form the coenzyme and the inactive, dephosphorylated enzyme, and that the...

Mapping recombination hotspots in human phosphoglucomutase (PGM1).

Human phosphoglucomutase (PGM1) is a highly poly-morphic protein. Three mutations and four intragenic recombination events between the three mutation sites generate eight protein variants including the four universally common alleles, 1+, 1 -, 2+ and 2 -, and four others that are polymorphic in some Oriental populations, 3+, 3-, 7+ and 7-. The mutations 3/7, 2/1 and +/-are in exons 1A, 4 and 8,...