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At least 1,549 records · Page 86Linked to original sources
PubMed1975

Galactose-1-phosphate uridyl transferase in fibroblasts: isozymes in normal and variant states.

Electorphoretic properties of galactose-1-phosphate uridyl transferase in cultured skin fibroblasts of normal humans and individuals with different enzyme variants have been studied. Normal fibroblast lysates showed four activity bands, each slower moving than the erythrocyte enzyme. The transferase variants revealed different mobilities analogous to those found in erythrocytes. These findings suggest that subunits of human transferase associate variously with one another in a manner specific for each tissue and that in transferase variant states, an altered subunit results in a characteristic alteration in electrophoretic mobility which is analogous for each tissue.

Electrophoresis, Starch Gel↗
PubMed1983

Molecular studies on galactose 1 phosphate uridylyl transferase from normal and mutant subjects. An immunological approach.

The mutant forms of uridylyl transferase of eight galactosemic patients and two 'Rennes' variants were characterized with regard to the presence and level of immunoreactive protein, the apparent subunit molecular weight and the isoelectric point. Semi-purified haemolysates were studied by various electrophoretic techniques, then proteins were electrophoretically transferred on to nitrocellulose filters. They were treated with specific anti-transferase antibodies, and then with radioiodinated protein A, followed by autoradiography. We have found that: in all cases, a cross-reacting material was detectable, with a molecular subunit size of 46 000, indistinguishable from that of controls. a biochemical heterogeneity of the mutant enzyme was found: the amount of apparent immunologically reactive protein varied from 20 to 100% of that of controls; electrophoretic experiments performed on two 'Rennes' variants showed an increased negative charge.

Adolescent↗
PubMed1961

Galactosaemia.

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Galactose↗
PubMedDate not supplied

Changes in (Na+ + K+) ATPase activity and the composition of surface carbohydrates in erythrocyte membranes in alcoholics.

(Na+ + K+)ATPase activity and sensitivity to the inhibitory effect of ethanol and noradrenaline in vitro as well as the concentrations of sialic acid, galactose, and hexosamine were determined in erythrocyte membranes in 20 healthy controls and in 20 alcoholic patients within 24 hr of withdrawal. Basal (Na+ + K+)ATPase activity, the sensitivity of the enzyme to inhibition by ethanol and noradrenaline added in vitro, and the concentrations of sialic acid and galactose were significantly reduced in the patients (p less than 0.0005). All of these abnormalities were significantly correlated to each other as well as to the estimated daily quantity of ethanol consumed. After enzymatic removal of terminal sialic acid and terminal and sialic acid-bound beta-galactose, the (Na+ + K+)ATPase differences between the patients and the controls were eliminated. The results showed that the previously reported reduced inhibition of (Na+ + K+)ATPase by ethanol in the presence of noradrenaline in brain membranes in chronically ethanol-fed animals is also found in erythrocyte membranes in alcoholic humans. Abnormal carbohydrate composition of glycolipids and/or glycoproteins of the membrane surface appeared to be related to the (Na+ + K+)ATPase changes, possibly due to interference either with K+ transport or surface electrostatics or, directly or indirectly, with the conformation of (Na+ + K+)ATPase.

Adult↗
PubMed1955

Galactosaemia.

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Blood↗