Gene Review:
GALT - galactose-1-phosphate uridylyltransferase
Homo sapiens
Synonyms:
Gal-1-P uridylyltransferase, Galactose-1-phosphate uridylyltransferase, UDP-glucose--hexose-1-phosphate uridylyltransferase
- Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase. Reichardt, J.K., Packman, S., Woo, S.L. Am. J. Hum. Genet. (1991)
- Galactose-1-phosphate uridyl transferase (GALT) genotype and phenotype, galactose consumption, and the risk of borderline and invasive ovarian cancer (United States). Cozen, W., Peters, R., Reichardt, J.K., Ng, W., Felix, J.C., Wan, P., Pike, M.C. Cancer Causes Control (2002)
- Microsatellite DNA assays reveal an allelic imbalance in p16(Ink4), GALT, p53, and APOA2 loci in patients with endometriosis. Goumenou, A.G., Arvanitis, D.A., Matalliotakis, I.M., Koumantakis, E.E., Spandidos, D.A. Fertil. Steril. (2001)
- Three missense mutations in the galactose-1-phosphate uridyltransferase gene of three families with mild galactosaemia. Shin, Y.S., Gathof, B.S., Podskarbi, T., Sommer, M., Giugliani, R., Gresser, U. Eur. J. Pediatr. (1996)
- Abundant expression of granzyme A, but not perforin, in granules of CD8+ T cells in GALT: implications for immune control of HIV-1 infection. Shacklett, B.L., Cox, C.A., Quigley, M.F., Kreis, C., Stollman, N.H., Jacobson, M.A., Andersson, J., Sandberg, J.K., Nixon, D.F. J. Immunol. (2004)
- Clinical and biochemical evidence of skeletal muscle involvement in galactose-1-phosphate uridyl transferase deficiency. Bresolin, N., Comi, G.P., Fortunato, F., Meola, G., Gallanti, A., Tajana, A., Velicogna, M., Gonano, E.F., Ninfali, P., Pifferi, S. J. Neurol. (1993)
- Regulation of galactose-1-phosphate uridyltransferase gene expression. Heidenreich, R.A. Eur. J. Pediatr. (1995)
- Classical galactosaemia in Chinese: A case report and review of disease incidence. Cheung, K.L., Tang, N.L., Hsiao, K.J., Law, L.K., Wong, W., Ng, P.C., Pang, C.P., Applegarth, D.A., Fok, T.F., Hjelm, N.M. Journal of paediatrics and child health. (1999)
- The Galt Visiting Scholar in Public Mental Health: a review of a model of state-university collaboration. Yank, G.R., Fox, J.C., Davis, K.E. Community mental health journal. (1991)
- Dramatic increase in the numbers of functionally mature dendritic cells in Flt3 ligand-treated mice: multiple dendritic cell subpopulations identified. Maraskovsky, E., Brasel, K., Teepe, M., Roux, E.R., Lyman, S.D., Shortman, K., McKenna, H.J. J. Exp. Med. (1996)
- The fundamental importance of human galactose metabolism: lessons from genetics and biochemistry. Petry, K.G., Reichardt, J.K. Trends Genet. (1998)
- Molecular basis for Duarte and Los Angeles variant galactosemia. Langley, S.D., Lai, K., Dembure, P.P., Hjelm, L.N., Elsas, L.J. Am. J. Hum. Genet. (1997)
- Identification of mutations in the galactose-1-phosphate uridyltransferase (GALT) gene in 16 Turkish patients with galactosemia, including a novel mutation of F294Y. Mutation in brief no. 235. Online. Seyrantepe, V., Ozguc, M., Coskun, T., Ozalp, I., Reichardt, J.K. Hum. Mutat. (1999)
- The molecular relationship between deficient UDP-galactose uridyl transferase (GALT) and ceramide galactosyltransferase (CGT) enzyme function: a possible cause for poor long-term prognosis in classic galactosemia. Lebea, P.J., Pretorius, P.J. Med. Hypotheses (2005)
- The biochemical role of glutamine 188 in human galactose-1-phosphate uridyltransferase. Lai, K., Willis, A.C., Elsas, L.J. J. Biol. Chem. (1999)
- A common mutation associated with the Duarte galactosemia allele. Elsas, L.J., Dembure, P.P., Langley, S., Paulk, E.M., Hjelm, L.N., Fridovich-Keil, J. Am. J. Hum. Genet. (1994)
- Assignment of the human gene for galactose-1-phosphate uridyltransferase to chromosome 9: studies with Chinese hamster-human somatic cell hybrids. Mohandas, T., Sparkes, R.S., Sparkes, M.C., Shulkin, J.D. Proc. Natl. Acad. Sci. U.S.A. (1977)
- Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes. Elsas, L.J., Langley, S., Steele, E., Evinger, J., Fridovich-Keil, J.L., Brown, A., Singh, R., Fernhoff, P., Hjelm, L.N., Dembure, P.P. Am. J. Hum. Genet. (1995)
- Molecular characterization of galactosemia (type 1) mutations in Japanese. Ashino, J., Okano, Y., Suyama, I., Yamazaki, T., Yoshino, M., Furuyama, J., Lin, H.C., Reichardt, J.K., Isshiki, G. Hum. Mutat. (1995)
- Rabbit appendix: a site of development and selection of the B cell repertoire. Pospisil, R., Mage, R.G. Curr. Top. Microbiol. Immunol. (1998)
- Demonstration of gene dosage effects for AK3 and GALT in fibroblasts from a fetus with 9p trisomy. Steinbach, P., Benz, R. Hum. Genet. (1983)
- Identification and functional analysis of three distinct mutations in the human galactose-1-phosphate uridyltransferase gene associated with galactosemia in a single family. Fridovich-Keil, J.L., Langley, S.D., Mazur, L.A., Lennon, J.C., Dembure, P.P., Elsas, J.L. Am. J. Hum. Genet. (1995)
- Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase. Reichardt, J.K., Woo, S.L. Proc. Natl. Acad. Sci. U.S.A. (1991)
- Distribution of beta 7 integrins in human intestinal mucosa and organized gut-associated lymphoid tissue. Farstad, I.N., Halstensen, T.S., Lien, B., Kilshaw, P.J., Lazarovits, A.I., Brandtzaeg, P., Lazarovitz, A.I. Immunology (1996)
- Study of five haemogenetic markers (Gc, C3, Bf, Ag, and GALT) in six Indonesian populations and in 12 subgroups of Balinese. Scherz, R., Breguet, G., Ney, R., Pflugshaupt, R., Bütler, R. Am. J. Phys. Anthropol. (1988)
- Genetic linkage analysis of dermo-distortive urticaria. Epstein, P.A., Kidd, K.K., Sparkes, R.S. Am. J. Med. Genet. (1981)
- Immunoglobulin A cell distribution in the human small intestine: phenotypic and functional characteristics. Farstad, I.N., Carlsen, H., Morton, H.C., Brandtzaeg, P. Immunology (2000)
- Role of endometriosis in cancer and tumor development. Swiersz, L.M. Ann. N. Y. Acad. Sci. (2002)
- The genetic basis of endometriosis. Zondervan, K.T., Cardon, L.R., Kennedy, S.H. Current opinion in obstetrics & gynecology. (2001)
- Regional localization of the genes coding for human red cell adenylate kinase, aconitase, and galactose-1-phosphate uridylyltransferase on chromosome 9. Westerveld, A., Garver, J., Nijman, M.A., Pearson, P.L. Cytogenet. Cell Genet. (1978)
- Quantitative Beutler test for newborn mass screening of galactosemia using a fluorometric microplate reader. Fujimoto, A., Okano, Y., Miyagi, T., Isshiki, G., Oura, T. Clin. Chem. (2000)
- Human erythrocyte galactokinase and galactose-1-phosphate uridylyltransferase: a population survey. Tedesco, T.A., Miller, K.L., Rawnsley, B.E., Mennuti, M.T., Spielman, R.S., Mellman, W.J. Am. J. Hum. Genet. (1975)
- Functional requirements of the active site position 185 in the human enzyme galactose-1-phosphate uridylyltransferase. Quimby, B.B., Wells, L., Wilkinson, K.D., Fridovich-Keil, J.L. J. Biol. Chem. (1996)