Gene Review:
GCDH - glutaryl-CoA dehydrogenase
Homo sapiens
Synonyms:
ACAD5, GCD, Glutaryl-CoA dehydrogenase, mitochondrial
Mühlhausen,
Christensen,
Schwartz,
Muschol,
Ullrich,
Lukacs,
Koeller,
Sauer,
Wajner,
de Mello,
Goodman,
Woontner,
Mühlhausen,
Okun,
Kölker,
Bjugstad,
Crnic,
Goodman,
Freed,
Kölker,
Garbade,
Greenberg,
Leonard,
Saudubray,
Ribes,
Kalkanoglu,
Lund,
Merinero,
Wajner,
Troncoso,
Williams,
Walter,
Campistol,
Martí-Herrero,
Caswill,
Burlina,
Lagler,
Maier,
Schwahn,
Tokatli,
Dursun,
Coskun,
Chalmers,
Koeller,
Zschocke,
Christensen,
Burgard,
Hoffmann,
- Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct. Busquets, C., Merinero, B., Christensen, E., Gelpí, J.L., Campistol, J., Pineda, M., Fernández-Alvarez, E., Prats, J.M., Sans, A., Arteaga, R., Martí, M., Campos, J., Martínez-Pardo, M., Martínez-Bermejo, A., Ruiz-Falcó, M.L., Vaquerizo, J., Orozco, M., Ugarte, M., Coll, M.J., Ribes, A. Pediatr. Res. (2000)
- Cloning, structure, and chromosome localization of the mouse glutaryl-CoA dehydrogenase gene. Koeller, D.M., DiGiulio, K.A., Angeloni, S.V., Dowler, L.L., Frerman, F.E., White, R.A., Goodman, S.I. Genomics (1995)
- Reconstructed 19 kDa catalytic domain of gelatinase A is an active proteinase. Ye, Q.Z., Johnson, L.L., Yu, A.E., Hupe, D. Biochemistry (1995)
- Steroid receptors in benign breast disease, gross cystic disease and fibroadenoma. Nardelli, G.B., Lamaina, V., Siliotti, F. Clinical and experimental obstetrics & gynecology. (1987)
- Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish. Biery, B.J., Stein, D.E., Morton, D.H., Goodman, S.I. Am. J. Hum. Genet. (1996)
- Interaction of guanylyl cyclase C with SH3 domain of Src tyrosine kinase. Yet another mechanism for desensitization. Singh, R. J. Biol. Chem. (2003)
- Accumulation of beta ig-h3 gene product in corneas with granular dystrophy. Klintworth, G.K., Valnickova, Z., Enghild, J.J. Am. J. Pathol. (1998)
- Mutation analysis in glutaric aciduria type I. Zschocke, J., Quak, E., Guldberg, P., Hoffmann, G.F. J. Med. Genet. (2000)
- Assignment of human glutaryl-CoA dehydrogenase gene (GCDH) to the short arm of chromosome 19 (19p13.2) by in situ hybridization and somatic cell hybrid analysis. Greenberg, C.R., Duncan, A.M., Gregory, C.A., Singal, R., Goodman, S.I. Genomics (1994)
- Crystal structures of human glutaryl-CoA dehydrogenase with and without an alternate substrate: structural bases of dehydrogenation and decarboxylation reactions. Fu, Z., Wang, M., Paschke, R., Rao, K.S., Frerman, F.E., Kim, J.J. Biochemistry (2004)
- Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I. Mühlhausen, C., Christensen, E., Schwartz, M., Muschol, N., Ullrich, K., Lukacs, Z. J. Inherit. Metab. Dis. (2003)
- Animal models for glutaryl-CoA dehydrogenase deficiency. Koeller, D.M., Sauer, S., Wajner, M., de Mello, C.F., Goodman, S.I., Woontner, M., Mühlhausen, C., Okun, J.G., Kölker, S. J. Inherit. Metab. Dis. (2004)
- Conservation of central nervous system glutaryl-coenzyme A dehydrogenase in fruit-eating bats with glutaric aciduria and deficient hepatic glutaryl-coenzyme A dehydrogenase. McMillan, T.A., Gibson, K.M., Sweetman, L., Meyers, G.S., Green, R. J. Biol. Chem. (1988)
- Phenotypic variability in glutaric aciduria type I: Report of fourteen cases in five Canadian Indian kindreds. Haworth, J.C., Booth, F.A., Chudley, A.E., deGroot, G.W., Dilling, L.A., Goodman, S.I., Greenberg, C.R., Mallory, C.J., McClarty, B.M., Seshia, S.S. J. Pediatr. (1991)
- Severe isolated Crohn's-like disease of the gastroduodenal tract. Grübel, P., Choi, Y., Schneider, D., Knox, T.A., Cave, D.R. Dig. Dis. Sci. (2003)
- The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I. Schwartz, M., Christensen, E., Superti-Furga, A., Brandt, N.J. Hum. Genet. (1998)
- Intracerebral accumulation of glutaric and 3-hydroxyglutaric acids secondary to limited flux across the blood-brain barrier constitute a biochemical risk factor for neurodegeneration in glutaryl-CoA dehydrogenase deficiency. Sauer, S.W., Okun, J.G., Fricker, G., Mahringer, A., Müller, I., Crnic, L.R., Mühlhausen, C., Hoffmann, G.F., Hörster, F., Goodman, S.I., Harding, C.O., Koeller, D.M., Kölker, S. J. Neurochem. (2006)
- Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency. Kölker, S., Garbade, S.F., Greenberg, C.R., Leonard, J.V., Saudubray, J.M., Ribes, A., Kalkanoglu, H.S., Lund, A.M., Merinero, B., Wajner, M., Troncoso, M., Williams, M., Walter, J.H., Campistol, J., Martí-Herrero, M., Caswill, M., Burlina, A.B., Lagler, F., Maier, E.M., Schwahn, B., Tokatli, A., Dursun, A., Coskun, T., Chalmers, R.A., Koeller, D.M., Zschocke, J., Christensen, E., Burgard, P., Hoffmann, G.F. Pediatr. Res. (2006)
- Infant mice with glutaric acidaemia type I have increased vulnerability to 3-nitropropionic acid toxicity. Bjugstad, K.B., Crnic, L.S., Goodman, S.I., Freed, C.R. J. Inherit. Metab. Dis. (2006)
- Vascular dysfunction as an additional pathomechanism in glutaric aciduria type I. Mühlhausen, C., Ergün, S., Strauss, K.A., Koeller, D.M., Crnic, L., Woontner, M., Goodman, S.I., Ullrich, K., Braulke, T. J. Inherit. Metab. Dis. (2004)
- Genetic and biochemical study in a patient with glutaric acidemia type I. Lin, W.D., Wang, C.H., Lai, C.C., Lee, C.C., Tsai, F.J. J. Formos. Med. Assoc. (2004)
- Characterization of new diagnostic acylcarnitines in patients with beta-ketothiolase deficiency and glutaric aciduria type I using mass spectrometry. Millington, D.S., Roe, C.R., Maltby, D.A. Biomed. Environ. Mass Spectrom. (1987)
- Recurrent and novel mutations of GCDH gene in Chinese glutaric acidemia type I families. Tang, N.L., Hui, J., Law, L.K., Lam, Y.Y., Chan, K.Y., Yeung, W.L., Chan, A.Y., Cheung, K.L., Fok, T.F. Hum. Mutat. (2000)
- Glutaric aciduria type I: enzymatic and neuroradiologic investigations of two kindreds. Amir, N., Elpeleg, O.N., Shalev, R.S., Christensen, E. J. Pediatr. (1989)