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Volumn 59, Issue 4, 2011, Pages 465-472

Two genetic forms of hyperinsulinemic hypoglycemia caused by dysregulation of glutamate dehydrogenase

Author keywords

Beta cell; Children; Genetic disorders; Hyperinsulinism; Hypoglycemia; Insulin; Leucine sensitive

Indexed keywords

3 HYDROXYACYL COENZYME A DEHYDROGENASE; GLUTAMATE DEHYDROGENASE; INSULIN;

EID: 80052259624     PISSN: 01970186     EISSN: 18729754     Source Type: Journal    
DOI: 10.1016/j.neuint.2010.11.017     Document Type: Article
Times cited : (30)

References (28)
  • 4
    • 77957760755 scopus 로고    scopus 로고
    • Mechanism of hyperinsulinism in short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency involves activation of glutamate dehydrogenase
    • C. Li, P. Chen, and A. Palladino Mechanism of hyperinsulinism in short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency involves activation of glutamate dehydrogenase J. Biol. Chem. 2010
    • (2010) J. Biol. Chem.
    • Li, C.1    Chen, P.2    Palladino, A.3
  • 5
    • 54249092318 scopus 로고    scopus 로고
    • Untangling the glutamate dehydrogenase allosteric nightmare
    • T.J. Smith, and C.A. Stanley Untangling the glutamate dehydrogenase allosteric nightmare Trends Biochem. Sci. 2008
    • (2008) Trends Biochem. Sci.
    • Smith, T.J.1    Stanley, C.A.2
  • 6
    • 0036304611 scopus 로고    scopus 로고
    • The structure of apo human glutamate dehydrogenase details subunit communication and allostery
    • DOI 10.1016/S0022-2836(02)00161-4
    • T.J. Smith, T. Schmidt, J. Fang, J. Wu, G. Siuzdak, and C.A. Stanley The structure of apo human glutamate dehydrogenase details subunit communication and allostery J. Mol. Biol. 318 2002 765 777 (Pubitemid 34729367)
    • (2002) Journal of Molecular Biology , vol.318 , Issue.3 , pp. 765-777
    • Smith, T.J.1    Schmidt, T.2    Fang, J.3    Wu, J.4    Siuzdak, G.5    Stanley, C.A.6
  • 8
    • 33845725307 scopus 로고    scopus 로고
    • Mechanisms of disease: Advances in diagnosis and treatment of hyperinsulinism in neonates
    • DOI 10.1038/ncpendmet0368, PII NCPENDMET0368
    • D.D. De Leon, and C.A. Stanley Mechanisms of disease: advances in diagnosis and treatment of hyperinsulinism in neonates Nat. Clin. Pract. Endocrinol. Metab. 3 2007 57 68 (Pubitemid 46006613)
    • (2007) Nature Clinical Practice Endocrinology and Metabolism , vol.3 , Issue.1 , pp. 57-68
    • De Leon, D.D.1    Stanley, C.A.2
  • 9
    • 0035091975 scopus 로고    scopus 로고
    • Protein-sensitive and fasting hypoglycemia in children with the hyperinsulinism/hyperammonemia syndrome
    • DOI 10.1067/mpd.2001.111818
    • B.Y. Hsu, A. Kelly, P.S. Thornton, C.R. Greenberg, L.A. Dilling, and C.A. Stanley Protein-sensitive and fasting hypoglycemia in children with the hyperinsulinism/hyperammonemia syndrome J. Pediatr. 138 2001 383 389 (Pubitemid 32207142)
    • (2001) Journal of Pediatrics , vol.138 , Issue.3 , pp. 383-389
    • Hsu, B.Y.L.1    Kelly, A.2    Thornton, P.S.3    Greenberg, C.R.4    Dilling, L.A.5    Stanley, C.A.6
  • 11
    • 0034029974 scopus 로고    scopus 로고
    • Molecular basis and characterization of the hyperinsulinism/ hyperammonemia syndrome: Predominance of mutations in exons 11 and 12 of the glutamate dehydrogenase gene
    • C.A. Stanley, J. Fang, and K. Kutyna Molecular basis and characterization of the hyperinsulinism/hyperammonemia syndrome: predominance of mutations in exons 11 and 12 of the glutamate dehydrogenase gene. HI/HA contributing investigators Diabetes 49 2000 667 673 (Pubitemid 30183758)
    • (2000) Diabetes , vol.49 , Issue.4 , pp. 667-673
    • Stanley, C.A.1    Fang, J.2    Kutyna, K.3    Hsu, B.Y.L.4    Ming, J.E.5    Glaser, B.6    Poncz, M.7
  • 12
    • 4244046991 scopus 로고    scopus 로고
    • Acute insulin responses to leucine: A diagnostic tool for the hyperinsulinism/hyperammonemia syndrome
    • (SPR meeting abstract)
    • A. Kelly, R.J. Ferry, A. Grimberg, S. Koo-McCoy, and C.A. Stanley Acute insulin responses to leucine: a diagnostic tool for the hyperinsulinism/ hyperammonemia syndrome Pediatr. Res. 45 1999 92A (SPR meeting abstract)
    • (1999) Pediatr. Res. , vol.45
    • Kelly, A.1    Ferry, R.J.2    Grimberg, A.3    Koo-Mccoy, S.4    Stanley, C.A.5
  • 14
    • 0036534464 scopus 로고    scopus 로고
    • Expression, purification and characterization of human glutamate dehydrogenase (GDH) allosteric regulatory mutations
    • DOI 10.1042/0264-6021:3630081
    • J. Fang, B.Y. Hsu, C.M. MacMullen, M. Poncz, T.J. Smith, and C.A. Stanley Expression, purification and characterization of human glutamate dehydrogenase (GDH) allosteric regulatory mutations Biochem. J. 363 2002 81 87 (Pubitemid 34280615)
    • (2002) Biochemical Journal , vol.363 , Issue.1 , pp. 81-87
    • Fang, J.1    Hsu, B.Y.L.2    MacMullen, C.M.3    Poncz, M.4    Smith, T.J.5    Stanley, C.A.6
  • 15
    • 56849124017 scopus 로고    scopus 로고
    • Neurological aspects of hyperinsulinism-hyperammonaemia syndrome
    • N. Bahi-Buisson, E. Roze, and C. Dionisi Neurological aspects of hyperinsulinism-hyperammonaemia syndrome Develop. Med. Child Neurol. 50 2008 945 949
    • (2008) Develop. Med. Child Neurol. , vol.50 , pp. 945-949
    • Bahi-Buisson, N.1    Roze, E.2    Dionisi, C.3
  • 16
    • 77955283331 scopus 로고    scopus 로고
    • On the reversibility of glutamate dehydrogenase and the source of hyperammonemia in the hyperinsulinism/hyperammonemia syndrome
    • J.R. Treberg, M.E. Brosnan, M. Watford, and J.T. Brosnan On the reversibility of glutamate dehydrogenase and the source of hyperammonemia in the hyperinsulinism/hyperammonemia syndrome Adv. Enzyme Regul. 50 2010 34 43
    • (2010) Adv. Enzyme Regul. , vol.50 , pp. 34-43
    • Treberg, J.R.1    Brosnan, M.E.2    Watford, M.3    Brosnan, J.T.4
  • 17
    • 77952626170 scopus 로고    scopus 로고
    • Systemic activation of glutamate dehydrogenase increases renal ammoniagenesis: Implications for the hyperinsulinism/hyperammonemia syndrome
    • J.R. Treberg, K.A. Clow, K.A. Greene, M.E. Brosnan, and J.T. Brosnan Systemic activation of glutamate dehydrogenase increases renal ammoniagenesis: implications for the hyperinsulinism/hyperammonemia syndrome Am. J. Physiol. 298 2010 E1219 E1225
    • (2010) Am. J. Physiol. , vol.298
    • Treberg, J.R.1    Clow, K.A.2    Greene, K.A.3    Brosnan, M.E.4    Brosnan, J.T.5
  • 18
    • 0037163021 scopus 로고    scopus 로고
    • The key role of anaplerosis and cataplerosis for citric acid cycle function
    • DOI 10.1074/jbc.R200006200
    • O.E. Owen, S.C. Kalhan, and R.W. Hanson The key role of anaplerosis and cataplerosis for citric acid cycle function J. Biol. Chem. 277 2002 30409 30412 (Pubitemid 34970728)
    • (2002) Journal of Biological Chemistry , vol.277 , Issue.34 , pp. 30409-30412
    • Owen, O.E.1    Kalhan, S.C.2    Hanson, R.W.3
  • 19
    • 14844302859 scopus 로고    scopus 로고
    • Central nervous system hyperexcitability associated with glutamate dehydrogenase gain of function mutations
    • DOI 10.1016/j.jpeds.2004.10.040
    • D.M. Raizen, A. Brooks-Kayal, L. Steinkrauss, G.I. Tennekoon, C.A. Stanley, and A. Kelly Central nervous system hyperexcitability associated with glutamate dehydrogenase gain of function mutations J. Pediatr. 146 2005 388 394 (Pubitemid 40341751)
    • (2005) Journal of Pediatrics , vol.146 , Issue.3 , pp. 388-394
    • Raizen, D.M.1    Brooks-Kayal, A.2    Steinkrauss, L.3    Tennekoon, G.I.4    Stanley, C.A.5    Kelly, A.6
  • 21
    • 0347990591 scopus 로고    scopus 로고
    • Familial Hyperinsulinemic Hypoglycemia Caused by a Defect in the SCHAD Enzyme of Mitochondrial Fatty Acid Oxidation
    • DOI 10.2337/diabetes.53.1.221
    • A. Molven, G.E. Matre, and M. Duran Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation Diabetes 53 2004 221 227 (Pubitemid 38044719)
    • (2004) Diabetes , vol.53 , Issue.1 , pp. 221-227
    • Molven, A.1    Matre, G.E.2    Duran, M.3    Wanders, R.J.4    Rishaug, U.5    Njolstad, P.R.6    Jellum, E.7    Sovik, O.8
  • 22
    • 0346788907 scopus 로고    scopus 로고
    • Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with hyperinsulinism: A novel glucose-fatty acid cycle?
    • S. Eaton, I. Chatziandreou, S. Krywawych, S. Pen, P.T. Clayton, and K. Hussain Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with hyperinsulinism: a novel glucose-fatty acid cycle? Biochem. Soc. Trans. 31 2003 1137 1139 (Pubitemid 38030925)
    • (2003) Biochemical Society Transactions , vol.31 , Issue.6 , pp. 1137-1139
    • Eaton, S.1    Chatziandreou, I.2    Krywawych, S.3    Pen, S.4    Clayton, P.T.5    Hussain, K.6
  • 23
    • 39149123797 scopus 로고    scopus 로고
    • Role of short-chain hydroxyacyl CoA dehydrogenases in SCHAD deficiency
    • C. Filling, B. Keller, and D. Hirschberg Role of short-chain hydroxyacyl CoA dehydrogenases in SCHAD deficiency Biochem. Biophys. Res. Commun. 368 2008 6 11
    • (2008) Biochem. Biophys. Res. Commun. , vol.368 , pp. 6-11
    • Filling, C.1    Keller, B.2    Hirschberg, D.3
  • 24
    • 0023488951 scopus 로고
    • New genetic defects in mitochondrial fatty acid oxidation and carnitine deficiency
    • C.A. Stanley New genetic defects in mitochondrial fatty acid oxidation and carnitine deficiency Adv. Pediatr. 34 1987 59 88
    • (1987) Adv. Pediatr. , vol.34 , pp. 59-88
    • Stanley, C.A.1
  • 25
    • 67650221414 scopus 로고    scopus 로고
    • 3-Hydroxyacyl-coenzyme A dehydrogenase deficiency and hyperinsulinemic hypoglycemia: Characterization of a novel mutation and severe dietary protein sensitivity
    • R.R. Kapoor, C. James, S.E. Flanagan, S. Ellard, S. Eaton, and K. Hussain 3-Hydroxyacyl-coenzyme A dehydrogenase deficiency and hyperinsulinemic hypoglycemia: characterization of a novel mutation and severe dietary protein sensitivity J. Clin. Endocrinol. Metab. 94 2009 2221 2225
    • (2009) J. Clin. Endocrinol. Metab. , vol.94 , pp. 2221-2225
    • Kapoor, R.R.1    James, C.2    Flanagan, S.E.3    Ellard, S.4    Eaton, S.5    Hussain, K.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.