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Human UDP-galactose 4' epimerase (GALE) gene and identification of five missense mutations in patients with epimerase-deficiency galactosemia.
Mol Genet Metab. 1998 Jan; 63(1):26-30.MG

Abstract

The galactosemias are a series of three inborn errors of metabolism caused by deficiency of any one of the three human galactose-metabolic enzymes: galactokinase (GALK), galactose-1-phosphate uridyl transferase (GALT), and UDP-galactose 4' epimerase (GALE). We report here the characterization of the entire coding sequence of the GALE gene and screening for mutations in epimerase-deficient individuals. The human GALE gene is about 4 kb in size and is divided into 11 exons on chromosome band 1p36. We have identified five mutations in the GALE gene of epimerase-deficient galactosemia patients. The patients were either homozygotes or compound heterozygotes for mutations. These results confirm that epimerase-deficiency galactosemia is the result of missense mutations in the GALE gene and indicate that the disease is characterized by extensive allelic heterogeneity.

Authors+Show Affiliations

Institute for Genetic Medicine, University of Southern California, Los Angeles 90033, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

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

Language

eng

PubMed ID

9538513

Citation

Maceratesi, P, et al. "Human UDP-galactose 4' Epimerase (GALE) Gene and Identification of Five Missense Mutations in Patients With Epimerase-deficiency Galactosemia." Molecular Genetics and Metabolism, vol. 63, no. 1, 1998, pp. 26-30.
Maceratesi P, Daude N, Dallapiccola B, et al. Human UDP-galactose 4' epimerase (GALE) gene and identification of five missense mutations in patients with epimerase-deficiency galactosemia. Mol Genet Metab. 1998;63(1):26-30.
Maceratesi, P., Daude, N., Dallapiccola, B., Novelli, G., Allen, R., Okano, Y., & Reichardt, J. (1998). Human UDP-galactose 4' epimerase (GALE) gene and identification of five missense mutations in patients with epimerase-deficiency galactosemia. Molecular Genetics and Metabolism, 63(1), 26-30.
Maceratesi P, et al. Human UDP-galactose 4' Epimerase (GALE) Gene and Identification of Five Missense Mutations in Patients With Epimerase-deficiency Galactosemia. Mol Genet Metab. 1998;63(1):26-30. PubMed PMID: 9538513.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Human UDP-galactose 4' epimerase (GALE) gene and identification of five missense mutations in patients with epimerase-deficiency galactosemia. AU - Maceratesi,P, AU - Daude,N, AU - Dallapiccola,B, AU - Novelli,G, AU - Allen,R, AU - Okano,Y, AU - Reichardt,J, PY - 1998/4/16/pubmed PY - 1998/4/16/medline PY - 1998/4/16/entrez SP - 26 EP - 30 JF - Molecular genetics and metabolism JO - Mol Genet Metab VL - 63 IS - 1 N2 - The galactosemias are a series of three inborn errors of metabolism caused by deficiency of any one of the three human galactose-metabolic enzymes: galactokinase (GALK), galactose-1-phosphate uridyl transferase (GALT), and UDP-galactose 4' epimerase (GALE). We report here the characterization of the entire coding sequence of the GALE gene and screening for mutations in epimerase-deficient individuals. The human GALE gene is about 4 kb in size and is divided into 11 exons on chromosome band 1p36. We have identified five mutations in the GALE gene of epimerase-deficient galactosemia patients. The patients were either homozygotes or compound heterozygotes for mutations. These results confirm that epimerase-deficiency galactosemia is the result of missense mutations in the GALE gene and indicate that the disease is characterized by extensive allelic heterogeneity. SN - 1096-7192 UR - https://www.unboundmedicine.com/medline/citation/9538513/Human_UDP_galactose_4'_epimerase__GALE__gene_and_identification_of_five_missense_mutations_in_patients_with_epimerase_deficiency_galactosemia_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1096-7192(97)92645-7 DB - PRIME DP - Unbound Medicine ER -