Gene Review:
GALK1 - galactokinase 1
Homo sapiens
Synonyms:
GALK, GK1, Galactokinase, Galactose kinase, HEL-S-19
- Functional analysis of disease-causing mutations in human galactokinase. Timson, D.J., Reece, R.J. Eur. J. Biochem. (2003)
- Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts. Stambolian, D., Ai, Y., Sidjanin, D., Nesburn, K., Sathe, G., Rosenberg, M., Bergsma, D.J. Nat. Genet. (1995)
- Molecular structure of human galactokinase: implications for type II galactosemia. Thoden, J.B., Timson, D.J., Reece, R.J., Holden, H.M. J. Biol. Chem. (2005)
- Galactose metabolism and reproductive history in women with type 1 neurofibromatosis. Cramer, D.W., Korf, B.R., Fortier, L.J. Am. J. Med. Genet. (1991)
- Molecular characterization of galactokinase deficiency in Japanese patients. Asada, M., Okano, Y., Imamura, T., Suyama, I., Hase, Y., Isshiki, G. J. Hum. Genet. (1999)
- Galactokinase deficiency and mental retardation. Segal, S., Rutman, J.Y., Frimpter, G.W. J. Pediatr. (1979)
- Potential role of galactokinase in neonatal carbohydrate assimilation. Kliegman, R.M., Miettinen, E.L., Morton, S. Science (1983)
- The fundamental importance of human galactose metabolism: lessons from genetics and biochemistry. Petry, K.G., Reichardt, J.K. Trends Genet. (1998)
- A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies). Kalaydjieva, L., Perez-Lezaun, A., Angelicheva, D., Onengut, S., Dye, D., Bosshard, N.U., Jordanova, A., Savov, A., Yanakiev, P., Kremensky, I., Radeva, B., Hallmayer, J., Markov, A., Nedkova, V., Tournev, I., Aneva, L., Gitzelmann, R. Am. J. Hum. Genet. (1999)
- Sugar recognition by human galactokinase. Timson, D.J., Reece, R.J. BMC Biochem. (2003)
- Coregulation of the human O6-methylguanine-DNA methyltransferase with two unrelated genes that are closely linked. Karran, P., Stephenson, C., Macpherson, P., Cairns-Smith, S., Priestley, A. Cancer Res. (1990)
- Molecular functions of conserved aspects of the GHMP kinase family. Andreassi, J.L., Leyh, T.S. Biochemistry (2004)
- Excretion of galactitol in the urine of heterozygotes of both forms of galactosemia. Sitzmann, F.C., Schmid, R.D., Kaloud, H. Clin. Chim. Acta (1977)
- Fine structure of the human galactokinase GALK1 gene. Bergsma, D.J., Ai, Y., Skach, W.R., Nesburn, K., Anoia, E., Van Horn, S., Stambolian, D. Genome Res. (1996)
- Galactokinase gene mutations and age-related cataract. Lack of association in an Italian population. Maraini, G., Hejtmancik, J.F., Shiels, A., Mackay, D.S., Aldigeri, R., Jiao, X.D., Williams, S.L., Sperduto, R.D., Reed, G. Mol. Vis. (2003)
- Evaluation of cGMP-phosphodiesterase (PDE) subunits for causal association with rod-cone dysplasia 2 (rcd2), a canine model of abnormal retinal cGMP metabolism. Wang, W., Acland, G.M., Ray, K., Aguirre, G.D. Exp. Eye Res. (1999)
- The molecular architecture of human N-acetylgalactosamine kinase. Thoden, J.B., Holden, H.M. J. Biol. Chem. (2005)
- Comparison of the enzymatic activities of human galactokinase GALK1 and a related human galactokinase protein GK2. Ai, Y., Basu, M., Bergsma, D.J., Stambolian, D. Biochem. Biophys. Res. Commun. (1995)
- Novel mutations in 13 probands with galactokinase deficiency. Kolosha, V., Anoia, E., de Cespedes, C., Gitzelmann, R., Shih, L., Casco, T., Saborio, M., Trejos, R., Buist, N., Tedesco, T., Skach, W., Mitelmann, O., Ledee, D., Huang, K., Stambolian, D. Hum. Mutat. (2000)
- Characterization of galactose-1-phosphate uridyl-transferase and galactokinase in human organs from the fetus and adult. Shin-Buehring, Y.S., Stuempfig, L., Pouget, E., Rahm, P., Schaub, J. Clin. Chim. Acta (1981)
- 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)
- Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency. Sangiuolo, F., Magnani, M., Stambolian, D., Novelli, G. Hum. Mutat. (2004)
- Cloning of a human galactokinase gene (GK2) on chromosome 15 by complementation in yeast. Lee, R.T., Peterson, C.L., Calman, A.F., Herskowitz, I., O'Donnell, J.J. Proc. Natl. Acad. Sci. U.S.A. (1992)
- Platelet cell-surface protein disulphide-isomerase mediated S-nitrosoglutathione consumption. Root, P., Sliskovic, I., Mutus, B. Biochem. J. (2004)
- Regional assignment of the human gene coding for a multifunctional polypeptide (P4HB) acting as the beta-subunit of prolyl 4-hydroxylase and the enzyme protein disulfide isomerase to 17q25. Pajunen, L., Jones, T.A., Goddard, A., Sheer, D., Solomon, E., Pihlajaniemi, T., Kivirikko, K.I. Cytogenet. Cell Genet. (1991)
- Two familial cases of high blood galactose of unknown aetiology. Brunetti-Pierri, N., Opekun, A.R., Craigen, W.J. J. Inherit. Metab. Dis. (2006)
- Molecular basis for severe epimerase deficiency galactosemia. X-ray structure of the human V94m-substituted UDP-galactose 4-epimerase. Thoden, J.B., Wohlers, T.M., Fridovich-Keil, J.L., Holden, H.M. J. Biol. Chem. (2001)
- Plasma polyol levels in patients with cataract. Jakobs, C., Douwes, A.C., Brockstedt, M., Stellaard, F., Endres, W., Shin, Y.S. J. Inherit. Metab. Dis. (1990)
- An unexpectedly high frequency of hypergalactosemia in an immigrant Bosnian population revealed by newborn screening. Reich, S., Hennermann, J., Vetter, B., Neumann, L.M., Shin, Y.S., Söling, A., Mönch, E., Kulozik, A.E. Pediatr. Res. (2002)