Gene Review:
HMGCL - 3-hydroxymethyl-3-methylglutaryl-CoA lyase
Homo sapiens
Synonyms:
3-hydroxy-3-methylglutarate-CoA lyase, HL, HMG-CoA lyase, Hydroxymethylglutaryl-CoA lyase, mitochondrial
- Molecular and clinical analysis of Japanese patients with 3-hydroxy-3-methylglutaryl CoA lyase (HL) deficiency. Muroi, J., Yorifuji, T., Uematsu, A., Shigematsu, Y., Onigata, K., Maruyama, H., Nobutoki, T., Kitamura, A., Nakahata, T. Hum. Genet. (2000)
- 3-Hydroxy-3-methylglutaryl CoA lyase (HL): mouse and human HL gene (HMGCL) cloning and detection of large gene deletions in two unrelated HL-deficient patients. Wang, S.P., Robert, M.F., Gibson, K.M., Wanders, R.J., Mitchell, G.A. Genomics (1996)
- Insights into the Mechanism of Action of Hyaluronate Lyase: ROLE OF C-TERMINAL DOMAIN AND Ca2+ IN THE FUNCTIONAL REGULATION OF ENZYME. Akhtar, M.S., Krishnan, M.Y., Bhakuni, V. J. Biol. Chem. (2006)
- Structural (betaalpha)8 TIM barrel model of 3-hydroxy-3-methylglutaryl-coenzyme A lyase. Casals, N., Gómez-Puertas, P., Pié, J., Mir, C., Roca, R., Puisac, B., Aledo, R., Clotet, J., Menao, S., Serra, D., Asins, G., Till, J., Elias-Jones, A.C., Cresto, J.C., Chamoles, N.A., Abdenur, J.E., Mayatepek, E., Besley, G., Valencia, A., Hegardt, F.G. J. Biol. Chem. (2003)
- Hydroxymethylglutaryl CoA lyase deficiency: features resembling Reye syndrome. Robinson, B.H., Oei, J., Sherwood, W.G., Slyper, A.H., Heininger, J., Mamer, O.A. Neurology (1980)
- Molecular prenatal diagnosis of 3-hydroxy-3-methylglutaryl CoA lyase deficiency. Mitchell, G.A., Jakobs, C., Gibson, K.M., Robert, M.F., Burlina, A., Dionisi-Vici, C., Dallaire, L. Prenat. Diagn. (1995)
- HMG CoA lyase deficiency: identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q. Mitchell, G.A., Ozand, P.T., Robert, M.F., Ashmarina, L., Roberts, J., Gibson, K.M., Wanders, R.J., Wang, S., Chevalier, I., Plöchl, E., Miziorko, H. Am. J. Hum. Genet. (1998)
- Genetic complementation analysis of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency in cultured fibroblasts. Sovik, O., Sweetman, L., Gibson, K.M., Nyhan, W.L. Am. J. Hum. Genet. (1984)
- Crystal structure of human 3-hydroxy-3-methylglutaryl-CoA Lyase: insights into catalysis and the molecular basis for hydroxymethylglutaric aciduria. Fu, Z., Runquist, J.A., Forouhar, F., Hussain, M., Hunt, J.F., Miziorko, H.M., Kim, J.J. J. Biol. Chem. (2006)
- 3-Hydroxy-3-methylglutaric aciduria in an Italian patient is caused by a new nonsense mutation in the HMGCL gene. Funghini, S., Pasquini, E., Cappellini, M., Donati, M.A., Morrone, A., Fonda, C., Zammarchi, E. Mol. Genet. Metab. (2001)
- Evaluation of 3-hydroxy-3-methylglutaryl-coenzyme A lyase arginine-41 as a catalytic residue: use of acetyldithio-coenzyme A to monitor product enolization. Tuinstra, R.L., Wang, C.Z., Mitchell, G.A., Miziorko, H.M. Biochemistry (2004)
- Aberrantly spliced mRNAs of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene with a donor splice-site point mutation produce hereditary HL deficiency. Buesa, C., Pié, J., Barceló, A., Casals, N., Mascaró, C., Casale, C.H., Haro, D., Duran, M., Smeitink, J.A., Hegardt, F.G. J. Lipid Res. (1996)
- 3-Hydroxy-3-methylglutaryl coenzyme A lyase (HL): cloning and characterization of a mouse liver HL cDNA and subchromosomal mapping of the human and mouse HL genes. Wang, S., Nadeau, J.H., Duncan, A., Robert, M.F., Fontaine, G., Schappert, K., Johnson, K.R., Zietkiewicz, E., Hruz, P., Miziorko, H. Mamm. Genome (1993)
- 3-Hydroxy-3-methylglutaryl-CoA lyase is present in mouse and human liver peroxisomes. Ashmarina, L.I., Rusnak, N., Miziorko, H.M., Mitchell, G.A. J. Biol. Chem. (1994)
- Increased plasma amylase in the family of a patient with 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency. Plöchl, E., Colombo, J.P., Wermuth, B., Gibson, K.M. Clin. Chem. (1992)
- The E37X is a common HMGCL mutation in Portuguese patients with 3-hydroxy-3-methylglutaric CoA lyase deficiency. Cardoso, M.L., Rodrigues, M.R., Leão, E., Martins, E., Diogo, L., Rodrigues, E., Garcia, P., Rolland, M.O., Vilarinho, L. Mol. Genet. Metab. (2004)
- Modeling of a mutation responsible for human 3-hydroxy-3-methylglutaryl-CoA lyase deficiency implicates histidine 233 as an active site residue. Roberts, J.R., Mitchell, G.A., Miziorko, H.M. J. Biol. Chem. (1996)
- 3-Hydroxy-3-methylglutaryl-CoA lyase: expression and isolation of the recombinant human enzyme and investigation of a mechanism for regulation of enzyme activity. Roberts, J.R., Narasimhan, C., Hruz, P.W., Mitchell, G.A., Miziorko, H.M. J. Biol. Chem. (1994)
- Chemical events in chloropropionyl coenzyme A inactivation of acyl coenzyme A utilizing enzymes. Miziorko, H.M., Behnke, C.E., Ahmad, F. Biochemistry (1989)
- LCGreen I-based real-time PCR assays for detecting common ASL and HMGCL variants. Alsmadi, O., Alkayal, F., Al-Sayed, M., Rashed, M.S., Imtiaz, F., Meyer, B.F. Clin. Chem. (2006)
- Investigation of the oligomeric status of the peroxisomal isoform of human 3-hydroxy-3-methylglutaryl-CoA lyase. Tuinstra, R.L., Burgner, J.W., Miziorko, H.M. Arch. Biochem. Biophys. (2002)
- Evaluation of cysteine 266 of human 3-hydroxy-3-methylglutaryl-CoA lyase as a catalytic residue. Roberts, J.R., Narasimhan, C., Miziorko, H.M. J. Biol. Chem. (1995)