Gene Review:
GLUD1 - glutamate dehydrogenase 1
Homo sapiens
Synonyms:
GDH, GDH 1, GDH1, GLUD, Glutamate dehydrogenase 1, mitochondrial
Plaitakis,
Zaganas,
Ihara,
Miyako,
Ishimura,
Kuromaru,
Wang,
Yasuda,
Hara,
Plaitakis,
Metaxari,
Shashidharan,
Katz,
Ferry,
Stanley,
Collett-Solberg,
Baker,
Cohen,
Tanizawa,
Nakai,
Sasaki,
Anno,
Ohta,
Inoue,
Matsuo,
Koga,
Furukawa,
Oka,
de Lonlay,
Cormier-Daire,
Amiel,
Touati,
Goldenberg,
Fournet,
Brunelle,
Nihoul-Fékété,
Rahier,
Junien,
Robert,
Saudubray,
de Lonlay,
Fournet,
Touati,
Groos,
Martin,
Sevin,
Delagne,
Mayaud,
Chigot,
Sempoux,
Brusset,
Laborde,
Bellane-Chantelot,
Vassault,
Rahier,
Junien,
Brunelle,
Nihoul-Fékété,
Saudubray,
Robert,
Than,
Sümegi,
Than,
Bellyei,
Bohn,
- Facial appearance in persistent hyperinsulinemic hypoglycemia. de Lonlay, P., Cormier-Daire, V., Amiel, J., Touati, G., Goldenberg, A., Fournet, J.C., Brunelle, F., Nihoul-Fékété, C., Rahier, J., Junien, C., Robert, J.J., Saudubray, J.M. Am. J. Med. Genet. (2002)
- A case of hyperinsulinism/hyperammonaemia syndrome with reduced carbamoyl-phosphate synthetase-1 activity in liver: a pitfall in enzymatic diagnosis for hyperammonaemia. Ihara, K., Miyako, K., Ishimura, M., Kuromaru, R., Wang, H.Y., Yasuda, K., Hara, T. J. Inherit. Metab. Dis. (2005)
- Novel human glutamate dehydrogenase expressed in neural and testicular tissues and encoded by an X-linked intronless gene. Shashidharan, P., Michaelidis, T.M., Robakis, N.K., Kresovali, A., Papamatheakis, J., Plaitakis, A. J. Biol. Chem. (1994)
- Unregulated elevation of glutamate dehydrogenase activity induces glutamine-stimulated insulin secretion: identification and characterization of a GLUD1 gene mutation and insulin secretion studies with MIN6 cells overexpressing the mutant glutamate dehydrogenase. Tanizawa, Y., Nakai, K., Sasaki, T., Anno, T., Ohta, Y., Inoue, H., Matsuo, K., Koga, M., Furukawa, S., Oka, Y. Diabetes (2002)
- Single amino acid substitution (G456A) in the vicinity of the GTP binding domain of human housekeeping glutamate dehydrogenase markedly attenuates GTP inhibition and abolishes the cooperative behavior of the enzyme. Zaganas, I., Plaitakis, A. J. Biol. Chem. (2002)
- Serum desialotransferrin in the detection of alcohol abuse. Definition of a Tf index. Schellenberg, F., Weill, J. Drug and alcohol dependence. (1987)
- Lymphocyte glutamate dehydrogenase activity in normal aging and neurological diseases. Iwatsuji, K., Nakamura, S., Kameyama, M. Gerontology. (1989)
- Serum glutamate dehydrogenase is not a reliable marker of liver cell necrosis in alcoholics. Jenkins, W.J., Rosalki, S.B., Foo, Y., Scheuer, P.J., Nemesanszky, E., Sherlock, S. J. Clin. Pathol. (1982)
- ATP production rate in mitochondria isolated from microsamples of human muscle. Wibom, R., Hultman, E. Am. J. Physiol. (1990)
- SIRT4 Inhibits Glutamate Dehydrogenase and Opposes the Effects of Calorie Restriction in Pancreatic beta Cells. Haigis, M.C., Mostoslavsky, R., Haigis, K.M., Fahie, K., Christodoulou, D.C., Murphy, A.J., Valenzuela, D.M., Yancopoulos, G.D., Karow, M., Blander, G., Wolberger, C., Prolla, T.A., Weindruch, R., Alt, F.W., Guarente, L. Cell (2006)
- Familial leucine-sensitive hypoglycemia of infancy due to a dominant mutation of the beta-cell sulfonylurea receptor. Magge, S.N., Shyng, S.L., MacMullen, C., Steinkrauss, L., Ganguly, A., Katz, L.E., Stanley, C.A. J. Clin. Endocrinol. Metab. (2004)
- Abnormal platelet glutamate dehydrogenase activity and activation in dominant and nondominant olivopontocerebellar atrophy. Sorbi, S., Tonini, S., Giannini, E., Piacentini, S., Marini, P., Amaducci, L. Ann. Neurol. (1986)
- Importance of glutamate 279 for the coenzyme binding of human glutamate dehydrogenase. Yoon, H.Y., Cho, E.H., Kwon, H.Y., Choi, S.Y., Cho, S.W. J. Biol. Chem. (2002)
- Hyperinsulinism/hyperammonemia syndrome in children with regulatory mutations in the inhibitory guanosine triphosphate-binding domain of glutamate dehydrogenase. MacMullen, C., Fang, J., Hsu, B.Y., Kelly, A., de Lonlay-Debeney, P., Saudubray, J.M., Ganguly, A., Smith, T.J., Stanley, C.A. J. Clin. Endocrinol. Metab. (2001)
- Hyperinsulinism and hyperammonemia syndrome: report of twelve unrelated patients. De Lonlay, P., Benelli, C., Fouque, F., Ganguly, A., Aral, B., Dionisi-Vici, C., Touati, G., Heinrichs, C., Rabier, D., Kamoun, P., Robert, J.J., Stanley, C., Saudubray, J.M. Pediatr. Res. (2001)
- The human glutamate dehydrogenase gene family: gene organization and structural characterization. Michaelidis, T.M., Tzimagiorgis, G., Moschonas, N.K., Papamatheakis, J. Genomics (1993)
- Three human glutamate dehydrogenase genes (GLUD1, GLUDP2, and GLUDP3) are located on chromosome 10q, but are not closely physically linked. Deloukas, P., Dauwerse, J.G., Moschonas, N.K., van Ommen, G.J., van Loon, A.P. Genomics (1993)
- Properties and molecular evolution of human GLUD2 (neural and testicular tissue-specific) glutamate dehydrogenase. Kanavouras, K., Mastorodemos, V., Borompokas, N., Spanaki, C., Plaitakis, A. J. Neurosci. Res. (2007)
- Structure and expression analysis of a member of the human glutamate dehydrogenase (GLUD) gene family mapped to chromosome 10p11.2. Tzimagiorgis, G., Leversha, M.A., Chroniary, K., Goulielmos, G., Sargent, C.A., Ferguson-Smith, M., Moschonas, N.K. Hum. Genet. (1993)
- Regulation of human glutamate dehydrogenases: implications for glutamate, ammonia and energy metabolism in brain. Plaitakis, A., Zaganas, I. J. Neurosci. Res. (2001)
- Nerve tissue-specific (GLUD2) and housekeeping (GLUD1) human glutamate dehydrogenases are regulated by distinct allosteric mechanisms: implications for biologic function. Plaitakis, A., Metaxari, M., Shashidharan, P. J. Neurochem. (2000)
- Molecular cloning and characterization of placental tissue protein 18 (PP18a)/human mitochondrial branched-chain aminotransferase (BCATm) and its novel alternatively spliced PP18b variant. Than, N.G., Sümegi, B., Than, G.N., Bellyei, S., Bohn, H. Placenta (2001)
- Frontal lobe dysfunction in progressive supranuclear palsy: evidence for oxidative stress and mitochondrial impairment. Albers, D.S., Augood, S.J., Park, L.C., Browne, S.E., Martin, D.M., Adamson, J., Hutton, M., Standaert, D.G., Vonsattel, J.P., Gibson, G.E., Beal, M.F. J. Neurochem. (2000)
- Isolation of RNA polymerase from Clostridium difficile and characterization of glutamate dehydrogenase and rRNA gene promoters in vitro and in vivo. Mani, N., Dupuy, B., Sonenshein, A.L. J. Bacteriol. (2006)
- The effects of an acetate-sensitive anion binding site on NADPH binding in glutamate dehydrogenase. Chalabi, P., Maniscalco, S., Cohn, L.E., Fisher, H.F. Biochim. Biophys. Acta (1987)
- A new enzyme-coupled spectrophotometric method for the determination of arginase activity. Ozer, N. Biochemical medicine. (1985)
- A comparison of the glutamate dehydrogenase catalyzed oxidation of NADPH by trinitrobenzenesulfonate with the uncatalyzed reaction. Brown, A., Fisher, H.F. J. Am. Chem. Soc. (1976)
- Hormonal regulation of glutamine metabolism by OK cells. Nissim, I., States, B., Nissim, I., Lin, Z.P., Yudkoff, M. Kidney Int. (1995)
- ATP production in isolated muscle mitochondria from haemodialysis patients: effects of correction of anaemia with erythropoietin. Bárány, P., Wibom, R., Hultman, E., Bergström, J. Clin. Sci. (1991)
- 15N-NMR study of ammonium assimilation in Agaricus bisporus. Baars, J.J., Op den Camp, H.J., van der Drift, C., Joordens, J.J., Wijmenga, S.S., van Griensven, L.J., Vogels, G.D. Biochim. Biophys. Acta (1996)
- Substitution of Ser for Arg-443 in the regulatory domain of human housekeeping (GLUD1) glutamate dehydrogenase virtually abolishes basal activity and markedly alters the activation of the enzyme by ADP and L-leucine. Zaganas, I., Spanaki, C., Karpusas, M., Plaitakis, A. J. Biol. Chem. (2002)
- Suppression of insulin oversecretion by subcutaneous recombinant human insulin-like growth factor I in children with congenital hyperinsulinism due to defective beta-cell sulfonylurea receptor. Katz, L.E., Ferry, R.J., Stanley, C.A., Collett-Solberg, P.F., Baker, L., Cohen, P. J. Clin. Endocrinol. Metab. (1999)
- Expression, purification and characterization of human glutamate dehydrogenase (GDH) allosteric regulatory mutations. Fang, J., Hsu, B.Y., MacMullen, C.M., Poncz, M., Smith, T.J., Stanley, C.A. Biochem. J. (2002)
- Abnormal glutamate metabolism in an adult-onset degenerative neurological disorder. Plaitakis, A., Berl, S., Yahr, M.D. Science (1982)
- Molecular cloning and nucleotide sequence of the cDNA for human liver glutamate dehydrogenase precursor. Amuro, N., Yamaura, M., Goto, Y., Okazaki, T. Biochem. Biophys. Res. Commun. (1988)
- Heterogeneity of persistent hyperinsulinaemic hypoglycaemia. A series of 175 cases. de Lonlay, P., Fournet, J.C., Touati, G., Groos, M.S., Martin, D., Sevin, C., Delagne, V., Mayaud, C., Chigot, V., Sempoux, C., Brusset, M.C., Laborde, K., Bellane-Chantelot, C., Vassault, A., Rahier, J., Junien, C., Brunelle, F., Nihoul-Fékété, C., Saudubray, J.M., Robert, J.J. Eur. J. Pediatr. (2002)