Gene Review:
GALC - galactosylceramidase
Homo sapiens
Synonyms:
GALCERase, Galactocerebrosidase, Galactocerebroside beta-galactosidase, Galactosylceramidase, Galactosylceramide beta-galactosidase
- A large deletion together with a point mutation in the GALC gene is a common mutant allele in patients with infantile Krabbe disease. Rafi, M.A., Luzi, P., Chen, Y.Q., Wenger, D.A. Hum. Mol. Genet. (1995)
- Molecular heterogeneity of Krabbe disease. Fu, L., Inui, K., Nishigaki, T., Tatsumi, N., Tsukamoto, H., Kokubu, C., Muramatsu, T., Okada, S. J. Inherit. Metab. Dis. (1999)
- Donor-derived cells in the central nervous system of twitcher mice after bone marrow transplantation. Hoogerbrugge, P.M., Suzuki, K., Suzuki, K., Poorthuis, B.J., Kobayashi, T., Wagemaker, G., van Bekkum, D.W. Science (1988)
- Design and optimization of lentiviral vectors for transfer of GALC expression in Twitcher brain. Dolcetta, D., Perani, L., Givogri, M.I., Galbiati, F., Amadio, S., Del Carro, U., Finocchiaro, G., Fanzani, A., Marchesini, S., Naldini, L., Roncarolo, M.G., Bongarzone, E. The journal of gene medicine. (2006)
- Establishment and characterization of spontaneously immortalized Schwann cells from murine model of globoid cell leukodystrophy (twitcher). Shen, J.S., Watabe, K., Meng, X.L., Ida, H., Ohashi, T., Eto, Y. J. Neurosci. Res. (2002)
- Effect of bone marrow transplantation on enzyme levels and clinical course in the neurologically affected twitcher mouse. Hoogerbrugge, P.M., Poorthuis, B.J., Romme, A.E., van de Kamp, J.J., Wagemaker, G., van Bekkum, D.W. J. Clin. Invest. (1988)
- Inhibition of cytokinesis by a lipid metabolite, psychosine. Kanazawa, T., Nakamura, S., Momoi, M., Yamaji, T., Takematsu, H., Yano, H., Sabe, H., Yamamoto, A., Kawasaki, T., Kozutsumi, Y. J. Cell Biol. (2000)
- Localization of the Krabbe disease gene (GALC) on chromosome 14 by multipoint linkage analysis. Oehlmann, R., Zlotogora, J., Wenger, D.A., Knowlton, R.G. Am. J. Hum. Genet. (1993)
- Cloning and expression of cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy. Chen, Y.Q., Rafi, M.A., de Gala, G., Wenger, D.A. Hum. Mol. Genet. (1993)
- Residual galactosylsphingosine (psychosine) beta-galactosidase activities and associated GALC mutations in late and very late onset Krabbe disease. Harzer, K., Knoblich, R., Rolfs, A., Bauer, P., Eggers, J. Clin. Chim. Acta (2002)
- Hydrolysis of galactosylceramide is catalyzed by two genetically distinct acid beta-galactosidases. Kobayashi, T., Shinnoh, N., Goto, I., Kuroiwa, Y. J. Biol. Chem. (1985)
- Use of mixed dispersion of fluorescent galactosylceramide and sodium dodecylsulfate for assaying galactosylceramide-beta-galactosidase and diagnosing Krabbe disease. Salvayre, R., Gatt, S. Enzyme (1985)
- Molecular basis of late-life globoid cell leukodystrophy. De Gasperi, R., Gama Sosa, M.A., Sartorato, E., Battistini, S., Raghavan, S., Kolodny, E.H. Hum. Mutat. (1999)
- Structure and organization of the human galactocerebrosidase (GALC) gene. Luzi, P., Rafi, M.A., Wenger, D.A. Genomics (1995)
- Krabbe disease: genetic aspects and progress toward therapy. Wenger, D.A., Rafi, M.A., Luzi, P., Datto, J., Costantino-Ceccarini, E. Mol. Genet. Metab. (2000)
- Two different mutations are responsible for Krabbe disease in the Druze and Moslem Arab populations in Israel. Rafi, M.A., Luzi, P., Zlotogora, J., Wenger, D.A. Hum. Genet. (1996)
- Suppression of galactosylceramidase (GALC) expression in the twitcher mouse model of globoid cell leukodystrophy (GLD) is caused by nonsense-mediated mRNA decay (NMD). Lee, W.C., Tsoi, Y.K., Dickey, C.A., Delucia, M.W., Dickson, D.W., Eckman, C.B. Neurobiol. Dis. (2006)
- Retroviral vector-mediated transfer of the galactocerebrosidase (GALC) cDNA leads to overexpression and transfer of GALC activity to neighboring cells. Rafi, M.A., Fugaro, J., Amini, S., Luzi, P., de Gala, G., Victoria, T., Dubell, C., Shahinfar, M., Wenger, D.A. Biochem. Mol. Med. (1996)
- Generation of a mouse with low galactocerebrosidase activity by gene targeting: a new model of globoid cell leukodystrophy (Krabbe disease). Luzi, P., Rafi, M.A., Zaka, M., Curtis, M., Vanier, M.T., Wenger, D.A. Mol. Genet. Metab. (2001)
- Retrovirus-mediated gene transfer and galactocerebrosidase uptake into twitcher glial cells results in appropriate localization and phenotype correction. Luddi, A., Volterrani, M., Strazza, M., Smorlesi, A., Rafi, M.A., Datto, J., Wenger, D.A., Costantino-Ceccarini, E. Neurobiol. Dis. (2001)
- Protracted course of Krabbe disease in an adult patient bearing a novel mutation. Jardim, L.B., Giugliani, R., Pires, R.F., Haussen, S., Burin, M.G., Rafi, M.A., Wenger, D.A. Arch. Neurol. (1999)
- Quantification of cellular acid sphingomyelinase and galactocerebroside beta-galactosidase activities by electrospray ionization mass spectrometry. Zhou, X., Turecek, F., Scott, C.R., Gelb, M.H. Clin. Chem. (2001)
- Lead alters the developmental profile of the galactolipid metabolic enzymes in cultured oligodendrocyte lineage cells. Deng, W., Poretz, R.D. Neurotoxicology (2001)
- Regional mapping of the human galactocerebrosidase gene (GALC) to 14q31 by in situ hybridization. Cannizzaro, L.A., Chen, Y.Q., Rafi, M.A., Wenger, D.A. Cytogenet. Cell Genet. (1994)
- Galactocerebrosidase from human urine: purification and partial characterization. Chen, Y.Q., Wenger, D.A. Biochim. Biophys. Acta (1993)