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Galactose-1-phosphate uridyl transferase in density-fractionated erythrocytes. Studies of normal and mutant enzymes.
Hum Genet. 1989 May; 82(2):99-103.HG

Abstract

Galactose-1-phosphate uridyl transferase (GALT), the deficient enzyme in classical galactosemia, was studied by Percoll-gradient age-fractionation of erythrocytes. For normal GALT, a rapid and substantial decrease in GALT activity and loss of most of two isozymes was found to occur in the reticulocyte fractions. The loss of activity was then followed by relative stabilization of both GALT-specific activity and microheterogeneity in mature and aging erythrocytes. When applied to the study of mutant GALT from galactosemic patients, the Percoll-gradient fractionation method permitted detection in the reticulocyte-enriched fractions of up to 5% of normal GALT-specific activity and an isoelectric focusing pattern essentially the same as that of normal GALT. Percoll-gradient fractionation of erythrocytes offers a simple and direct method to study characteristics of GALT activity and microheterogeneity in normal and galactosemic human erythrocytes.

Authors+Show Affiliations

Kelley RI
Division of Biochemical Development and Molecular Diseases, Children's Hospital of Philadelphia, PA 19104.
Feinberg DM
No affiliation info available
Segal S
No affiliation info available

MeSH

Cell SeparationChildErythrocyte AgingErythrocytesGalactosemiasHumansIsoelectric FocusingMutationNucleotidyltransferasesUTP-Hexose-1-Phosphate Uridylyltransferase

Pub Type(s)

Journal Article
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

2542154

Citation

Kelley, R I., et al. "Galactose-1-phosphate Uridyl Transferase in Density-fractionated Erythrocytes. Studies of Normal and Mutant Enzymes." Human Genetics, vol. 82, no. 2, 1989, pp. 99-103.
Kelley RI, Feinberg DM, Segal S. Galactose-1-phosphate uridyl transferase in density-fractionated erythrocytes. Studies of normal and mutant enzymes. Hum Genet. 1989;82(2):99-103.
Kelley, R. I., Feinberg, D. M., & Segal, S. (1989). Galactose-1-phosphate uridyl transferase in density-fractionated erythrocytes. Studies of normal and mutant enzymes. Human Genetics, 82(2), 99-103.
Kelley RI, Feinberg DM, Segal S. Galactose-1-phosphate Uridyl Transferase in Density-fractionated Erythrocytes. Studies of Normal and Mutant Enzymes. Hum Genet. 1989;82(2):99-103. PubMed PMID: 2542154.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Galactose-1-phosphate uridyl transferase in density-fractionated erythrocytes. Studies of normal and mutant enzymes. AU - Kelley,R I, AU - Feinberg,D M, AU - Segal,S, PY - 1989/5/1/pubmed PY - 1989/5/1/medline PY - 1989/5/1/entrez SP - 99 EP - 103 JF - Human genetics JO - Hum Genet VL - 82 IS - 2 N2 - Galactose-1-phosphate uridyl transferase (GALT), the deficient enzyme in classical galactosemia, was studied by Percoll-gradient age-fractionation of erythrocytes. For normal GALT, a rapid and substantial decrease in GALT activity and loss of most of two isozymes was found to occur in the reticulocyte fractions. The loss of activity was then followed by relative stabilization of both GALT-specific activity and microheterogeneity in mature and aging erythrocytes. When applied to the study of mutant GALT from galactosemic patients, the Percoll-gradient fractionation method permitted detection in the reticulocyte-enriched fractions of up to 5% of normal GALT-specific activity and an isoelectric focusing pattern essentially the same as that of normal GALT. Percoll-gradient fractionation of erythrocytes offers a simple and direct method to study characteristics of GALT activity and microheterogeneity in normal and galactosemic human erythrocytes. SN - 0340-6717 UR - https://www.unboundmedicine.com/medline/citation/2542154/Galactose_1_phosphate_uridyl_transferase_in_density_fractionated_erythrocytes__Studies_of_normal_and_mutant_enzymes_ DB - PRIME DP - Unbound Medicine ER -