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Volumn 32, Issue 2, 2009, Pages 229-246

Animal models of maple syrup urine disease

Author keywords

[No Author keywords available]

Indexed keywords

BRANCHED CHAIN AMINO ACID; DIHYDROLIPOAMIDE DEHYDROGENASE;

EID: 64449083415     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-009-1086-z     Document Type: Article
Times cited : (30)

References (125)
  • 2
    • 0035090371 scopus 로고    scopus 로고
    • Signaling pathways involved in translational control of protein synthesis in skeletal muscle by leucine
    • Anthony JC, Anthony TG, Kimball SR, Jefferson LS (2001) Signaling pathways involved in translational control of protein synthesis in skeletal muscle by leucine. J Nutr 131: 856S-860S.
    • (2001) J Nutr , vol.131
    • Anthony, J.C.1    Anthony, T.G.2    Kimball, S.R.3    Jefferson, L.S.4
  • 3
    • 0035102870 scopus 로고    scopus 로고
    • Reduction of large neutral amino acids in plasma and brain in hyperleucinemic rats
    • doi: 10.1016/S0197-0186(00)00100-5
    • Araújo PR, Wassermann GF, Tallini K, et al (2001) Reduction of large neutral amino acids in plasma and brain in hyperleucinemic rats. Neurochem Int 38: 529-537. doi: 10.1016/S0197-0186(00)00100-5.
    • (2001) Neurochem Int , vol.38 , pp. 529-537
    • Araújo, P.R.1    Wassermann, G.F.2    Tallini, K.3
  • 4
    • 0035344211 scopus 로고    scopus 로고
    • Experimental models of Parkinsons's disease
    • doi: 10.1038/35072550
    • Beal MF (2001) Experimental models of Parkinsons's disease. Nat Rev Neurosci 2: 325-334. doi: 10.1038/35072550.
    • (2001) Nat Rev Neurosci , vol.2 , pp. 325-334
    • Beal, M.F.1
  • 5
    • 0027433553 scopus 로고
    • Neurochemical and histological characterization of striatal excitotoxic lesions produced by the mitochondrial toxin 3-nitropropionic acid
    • Beal MF, Brouillet E, Jenkins BG, et al (1993) Neurochemical and histological characterization of striatal excitotoxic lesions produced by the mitochondrial toxin 3-nitropropionic acid. J Neurosci 13: 4181-4192.
    • (1993) J Neurosci , vol.13 , pp. 4181-4192
    • Beal, M.F.1    Brouillet, E.2    Jenkins, B.G.3
  • 6
    • 0033016722 scopus 로고    scopus 로고
    • Dietary thiamin level influences levels of its diphosphate form and thiamin-dependent enzymic activities of rat liver
    • Blair PV, Kobayashi R, Edwards HM, Shay NF, Baker DH, Harris RA (1999) Dietary thiamin level influences levels of its diphosphate form and thiamin-dependent enzymic activities of rat liver. J Nutr 129: 641-648.
    • (1999) J Nutr , vol.129 , pp. 641-648
    • Blair, P.V.1    Kobayashi, R.2    Edwards, H.M.3    Shay, N.F.4    Baker, D.H.5    Harris, R.A.6
  • 7
    • 0034502503 scopus 로고    scopus 로고
    • Branched-chain L-amino acid metabolism in classical maple syrup urine disease after orthotopic liver transplantation
    • doi: 10.1023/A:1026708618507
    • Bodner-Leidecker A, Wendel U, Saudubray JM, Schadewaldt P (2000) Branched-chain L-amino acid metabolism in classical maple syrup urine disease after orthotopic liver transplantation. J Inherit Metab Dis 23: 805-818. doi: 10.1023/A:1026708618507.
    • (2000) J Inherit Metab Dis , vol.23 , pp. 805-818
    • Bodner-Leidecker, A.1    Wendel, U.2    Saudubray, J.M.3    Schadewaldt, P.4
  • 8
    • 43949096157 scopus 로고    scopus 로고
    • Influence of mitochondrial enzyme deficiency on adult neurogenesis in mouse models of neurodegenerative diseases
    • doi: 10.1016/j.neuroscience.2008.02.071
    • Calingasana NY, Hoa DJ, Willea EJ, et al (2008) Influence of mitochondrial enzyme deficiency on adult neurogenesis in mouse models of neurodegenerative diseases. Neuroscience 153(4): 986-996. doi: 10.1016/ j.neuroscience.2008.02.071.
    • (2008) Neuroscience , vol.153 , Issue.4 , pp. 986-996
    • Calingasana, N.Y.1    Hoa, D.J.2    Willea, E.J.3
  • 9
    • 0035212126 scopus 로고    scopus 로고
    • Novel mutations in a boy with dihydrolipoamide dehydrogenase deficiency
    • Cerna L, Wenchich L, Hansikova H, et al (2001) Novel mutations in a boy with dihydrolipoamide dehydrogenase deficiency. Med Sci Monit 7: 1319-1325.
    • (2001) Med Sci Monit , vol.7 , pp. 1319-1325
    • Cerna, L.1    Wenchich, L.2    Hansikova, H.3
  • 10
    • 0346656819 scopus 로고    scopus 로고
    • Maple syrup urine disease in the Austronesian aboriginal tribe Paiwan of Taiwan: A novel DBT (E2) gene 47 kb founder deletion caused by a nonhomologous recombination between LINE-1 and Alu and the carrier-frequency determination
    • doi: 10.1038/sj.ejhg.5201069
    • Chi C, Tsai C, Chen L, et al (2003) Maple syrup urine disease in the Austronesian aboriginal tribe Paiwan of Taiwan: A novel DBT (E2) gene 47 kb founder deletion caused by a nonhomologous recombination between LINE-1 and Alu and the carrier-frequency determination. Eur J Hum Genet 11(12): 931-936. doi: 10.1038/sj.ejhg.5201069.
    • (2003) Eur J Hum Genet , vol.11 , Issue.12 , pp. 931-936
    • Chi, C.1    Tsai, C.2    Chen, L.3
  • 11
    • 0028016275 scopus 로고
    • Regulation of gene expression of branched-chain keto acid dehydrogenase complex in primary cultured hepatocytes by dexamethasone and a cAMP analog
    • Chicco AG, Adibi SA, Liu WQ, Morris SMJ, Paul HS (1994) Regulation of gene expression of branched-chain keto acid dehydrogenase complex in primary cultured hepatocytes by dexamethasone and a cAMP analog. J Biol Chem 269(30): 19427.
    • (1994) J Biol Chem , vol.269 , Issue.30 , pp. 19427
    • Chicco, A.G.1    Adibi, S.A.2    Liu, W.Q.3    Morris, S.M.J.4    Paul, H.S.5
  • 12
    • 0001106274 scopus 로고
    • Maple syrup urine disease
    • In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. 7th edn. New York: McGraw-Hill
    • Chuang DT, Shih VE (1995) Maple syrup urine disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw-Hill, 1239-1277.
    • (1995) The Metabolic and Molecular Bases of Inherited Disease , pp. 1239-1277
    • Chuang, D.T.1    Shih, V.E.2
  • 13
    • 0002977005 scopus 로고    scopus 로고
    • Maple syrup urine disease (branched-chain ketoaciduria)
    • In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc. eds. 8th edn. New York: McGraw-Hill
    • Chuang DT, Shih VE (2001) Maple syrup urine disease (branched-chain ketoaciduria). In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc. eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 1971-2005.
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 1971-2005
    • Chuang, D.T.1    Shih, V.E.2
  • 14
    • 31544455515 scopus 로고    scopus 로고
    • Lessons from genetic disorders of branched-chain amino acid metabolism
    • Chuang DT, Chuang JL, Wynn RM (2006) Lessons from genetic disorders of branched-chain amino acid metabolism. J Nutr 136(Supplement 1): 243S-249S.
    • (2006) J Nutr , vol.136 , Issue.SUPPL. 1
    • Chuang, D.T.1    Chuang, J.L.2    Wynn, R.M.3
  • 15
    • 0029882854 scopus 로고    scopus 로고
    • Maple syrup urine disease: The E1beta gene of human branched-chain alpha-ketoacid dehydrogenase complex has 11 rather than 10 exons and the 3-prime UTR in one of the two E1-beta mRNAs arises from intronic sequences
    • Chuang JL, Cox RP, Chuang DT (1996) Maple syrup urine disease: The E1beta gene of human branched-chain alpha-ketoacid dehydrogenase complex has 11 rather than 10 exons and the 3-prime UTR in one of the two E1-beta mRNAs arises from intronic sequences. Am J Hum Genet 58: 1373-1377.
    • (1996) Am J Hum Genet , vol.58 , pp. 1373-1377
    • Chuang, J.L.1    Cox, R.P.2    Chuang, D.T.3
  • 16
    • 0030791608 scopus 로고    scopus 로고
    • E2 Transacylase-deficient (Type II) maple syrup urine disease: Aberrant splicing of E2 mRNA caused by internal intronic deletions and association with thiamine-responsive phenotype
    • doi: 10.1172/JCI119586
    • Chuang JL Cox RP, Chuang DT (1997) E2 Transacylase-deficient (Type II) maple syrup urine disease: Aberrant splicing of E2 mRNA caused by internal intronic deletions and association with thiamine-responsive phenotype. J Clin Invest 100(3): 736-744. doi: 10.1172/JCI119586.
    • (1997) J Clin Invest , vol.100 , Issue.3 , pp. 736-744
    • Chuang, J.L.1    Cox, R.P.2    Chuang, D.T.3
  • 17
    • 0029078168 scopus 로고
    • Molecular basis of maple syrup urine disease and stable correction by retroviral gene transfer
    • Chuang DT, Davie JR, Wynn RM, Chuang JL, Koyata H, Cox RP (1995) Molecular basis of maple syrup urine disease and stable correction by retroviral gene transfer. J Nutr 125(6 Supplement): 1766S-1772S.
    • (1995) J Nutr , vol.125 , Issue.6 SUPPL.
    • Chuang, D.T.1    Davie, J.R.2    Wynn, R.M.3    Chuang, J.L.4    Koyata, H.5    Cox, R.P.6
  • 18
    • 2342434850 scopus 로고    scopus 로고
    • Structural and biochemical basis for novel mutations in homozygous Israeli maple syrup urine disease patients: A proposed mechanism for the thiamin-responsive phenotype
    • doi: 10.1074/jbc.M313879200
    • Chuang J, Wynn R, Moss C, et al (2004) Structural and biochemical basis for novel mutations in homozygous Israeli maple syrup urine disease patients: A proposed mechanism for the thiamin-responsive phenotype. J Biol Chem 279(17): 17792-17800. doi: 10.1074/jbc.M313879200.
    • (2004) J Biol Chem , vol.279 , Issue.17 , pp. 17792-17800
    • Chuang, J.1    Wynn, R.2    Moss, C.3
  • 20
    • 9944240378 scopus 로고    scopus 로고
    • Avoidance behavior and neural correlates of allergen exposure in a murine model of asthma
    • doi: 10.1016/j.bbi.2004.02.005
    • Costa-Pinto FA, Basso AS, Britto LR, Malucelli BE, Russo M (2005) Avoidance behavior and neural correlates of allergen exposure in a murine model of asthma. Brain Behav Immun 19(1): 52-60. doi: 10.1016/ j.bbi.2004.02.005.
    • (2005) Brain Behav Immun , vol.19 , Issue.1 , pp. 52-60
    • Costa-Pinto, F.A.1    Basso, A.S.2    Britto, L.R.3    Malucelli, B.E.4    Russo, M.5
  • 21
    • 33646191736 scopus 로고
    • Maple syrup urine disease: Clinical and molecular genetic considerations
    • In: Rosenberg R et al, eds. Boston: Butterworth-Heinemann
    • Cox RP, Chuang DT (1993) Maple syrup urine disease: Clinical and molecular genetic considerations. In: Rosenberg R et al, eds. The Molecular and Genetic Basis for Neurological Disease. Boston: Butterworth-Heinemann, 189-207.
    • (1993) The Molecular and Genetic Basis for Neurological Disease , pp. 189-207
    • Cox, R.P.1    Chuang, D.T.2
  • 22
    • 64449088693 scopus 로고
    • Maple syrup urine disease
    • doi: 10.1002/path.1700810209
    • Crome L, Dutton G, Ross CF (1961) Maple syrup urine disease. J Pathol Bacteriol 81: 379-384. doi: 10.1002/path.1700810209.
    • (1961) J Pathol Bacteriol , vol.81 , pp. 379-384
    • Crome, L.1    Dutton, G.2    Ross, C.F.3
  • 23
    • 0021199303 scopus 로고
    • Purification and properties of branched-chain alpha-keto acid dehydrogenase phosphatase from bovine kidney
    • doi: 10.1073/pnas.81.14.4335
    • Damuni Z, Merryfield ML, Humphreys JS, Reed LJ (1984) Purification and properties of branched-chain alpha-keto acid dehydrogenase phosphatase from bovine kidney. Proc Natl Acad Sci U S A 81: 4335-4338. doi: 10.1073/ pnas.81.14.4335.
    • (1984) Proc Natl Acad Sci U S A , vol.81 , pp. 4335-4338
    • Damuni, Z.1    Merryfield, M.L.2    Humphreys, J.S.3    Reed, L.J.4
  • 24
    • 0001592465 scopus 로고
    • Metabolism of the white blood cells in maple syrup urine disease
    • doi: 10.1016/0006-3002(60)90448-0
    • Dancis J, Hutzler J, Levitz M (1960) Metabolism of the white blood cells in maple syrup urine disease. Biochim Biophys Acta 43: 342-343. doi: 10.1016/0006-3002(60)90448-0.
    • (1960) Biochim Biophys Acta , vol.43 , pp. 342-343
    • Dancis, J.1    Hutzler, J.2    Levitz, M.3
  • 25
    • 0001129327 scopus 로고    scopus 로고
    • Human mutations affecting branched chain α-ketoacid dehydrogenase
    • Danner DJ, Doering CB (1998) Human mutations affecting branched chain α-ketoacid dehydrogenase. Front Biosci 3: D517-524.
    • (1998) Front Biosci , vol.3
    • Danner, D.J.1    Doering, C.B.2
  • 26
    • 0021978964 scopus 로고
    • Absence of branched chain acyltransferase as a cause of maple syrup urine disease
    • doi: 10.1172/JCI111783
    • Danner DJ, Armstrong N, Heffelfinger SC, Sewell ET, Priest JH and Elsas LJ (1985) Absence of branched chain acyltransferase as a cause of maple syrup urine disease. J Clin Invest 75: 858-860. doi: 10.1172/JCI111783.
    • (1985) J Clin Invest , vol.75 , pp. 858-860
    • Danner, D.J.1    Armstrong, N.2    Heffelfinger, S.C.3    Sewell, E.T.4    Priest, J.H.5    Elsas, L.J.6
  • 27
    • 0024513419 scopus 로고
    • Construction and nucleotide sequence of a cDNA encoding the full-length preprotein for human branched chain acyltransferase
    • Danner DJ, Litwer S, Herring WJ, Pruckler J (1989) Construction and nucleotide sequence of a cDNA encoding the full-length preprotein for human branched chain acyltransferase. J Biol Chem 264: 7742-7746.
    • (1989) J Biol Chem , vol.264 , pp. 7742-7746
    • Danner, D.J.1    Litwer, S.2    Herring, W.J.3    Pruckler, J.4
  • 28
    • 0033172914 scopus 로고    scopus 로고
    • Definition of the mutation responsible for maple syrup urine disease in Poll Shorthorns and genotyping Poll Shorthorns and Poll Herefords for maple syrup urine disease alleles
    • doi: 10.1053/rvsc.1998.0296
    • Dennis JA, Healy PJ (1999) Definition of the mutation responsible for maple syrup urine disease in Poll Shorthorns and genotyping Poll Shorthorns and Poll Herefords for maple syrup urine disease alleles. Res Vet Sci 67(1): 1-6. doi: 10.1053/rvsc.1998.0296.
    • (1999) Res Vet Sci , vol.67 , Issue.1 , pp. 1-6
    • Dennis, J.A.1    Healy, P.J.2
  • 29
    • 0026660006 scopus 로고
    • Glutamate and gamma-aminobutyric acid neurotransmitter systems in the acute phase of maple syrup urine disease and citrullinemia encephalopathies in newborn calves
    • doi: 10.1111/j.1471-4159.1992.tb09409.x
    • Dodd PR, Williams SH, Gundlach AL, et al (1992) Glutamate and gamma-aminobutyric acid neurotransmitter systems in the acute phase of maple syrup urine disease and citrullinemia encephalopathies in newborn calves. J Neurochem 59: 582-590. doi: 10.1111/j.1471-4159.1992.tb09409.x.
    • (1992) J Neurochem , vol.59 , pp. 582-590
    • Dodd, P.R.1    Williams, S.H.2    Gundlach, A.L.3
  • 30
    • 0021833576 scopus 로고
    • Thiamine-responsive inborn errors of metabolism
    • doi: 10.1007/BF01800663
    • Duran M, Wadman SK (1985) Thiamine-responsive inborn errors of metabolism. J Inherit Metab Dis 8(Supplement 1): 70-75. doi: 10.1007/ BF01800663.
    • (1985) J Inherit Metab Dis , vol.8 , Issue.SUPPL. 1 , pp. 70-75
    • Duran, M.1    Wadman, S.K.2
  • 31
    • 0017812699 scopus 로고
    • Effects of thiamine in a patient with a variant form branched-chain ketoaciduria
    • doi: 10.1111/j.1651-2227.1978.tb16336.x
    • Duran M, Tielens AGM, Wadman SK, Stigter JCM, Kleijer WJ (1978) Effects of thiamine in a patient with a variant form branched-chain ketoaciduria. Acta Paediatr Scand 67: 367-372. doi: 10.1111/ j.1651-2227.1978.tb16336.x.
    • (1978) Acta Paediatr Scand , vol.67 , pp. 367-372
    • Duran, M.1    Tielens, A.G.M.2    Wadman, S.K.3    Stigter, J.C.M.4    Kleijer, W.J.5
  • 32
    • 0034827027 scopus 로고    scopus 로고
    • Maple Syrup Urine Disease: Identification of carrier frequency determination of a novel founder mutation in the Ashkenazi Jewish population
    • Edelmann L, Wasserstein MP, Kornreich R, Sansaricq C, Snyderman S, Diaz GA (2001) Maple Syrup Urine Disease: Identification of carrier frequency determination of a novel founder mutation in the Ashkenazi Jewish population. Am J Hum Genet 69(4): 863-868.
    • (2001) Am J Hum Genet , vol.69 , Issue.4 , pp. 863-868
    • Edelmann, L.1    Wasserstein, M.P.2    Kornreich, R.3    Sansaricq, C.4    Snyderman, S.5    Diaz, G.A.6
  • 33
    • 0018379441 scopus 로고
    • Increased glucagon secretion in protein-fed rats: Lack of relationship to plasma amino acids
    • Eisenstein AB, Strack I, Gallo-Torres H, Georgiadis A, Miller ON (1979) Increased glucagon secretion in protein-fed rats: Lack of relationship to plasma amino acids. Am J Physiol 236(1): E20-E27.
    • (1979) Am J Physiol , vol.236 , Issue.1
    • Eisenstein, A.B.1    Strack, I.2    Gallo-Torres, H.3    Georgiadis, A.4    Miller, O.N.5
  • 34
    • 0030769124 scopus 로고    scopus 로고
    • Lipoamide dehydrogenase deficiency in Ashkenazi Jews: An insertion mutation in the mitochondrial leader sequence
    • doi: 10.1002/(SICI)1098-1004(1997)10:3<256::AID-HUMU16>3.0.CO;2-Z
    • Elpeleg ON, Shaag A, Glustein JZ, Anikster Y, Joseph A, Saada A (1997) Lipoamide dehydrogenase deficiency in Ashkenazi Jews: An insertion mutation in the mitochondrial leader sequence. Hum Mutat 10: 256-257. doi: 10.1002/(SICI)1098-1004(1997)10:3<256::AID-HUMU16>3.0.CO;2-Z.
    • (1997) Hum Mutat , vol.10 , pp. 256-257
    • Elpeleg, O.N.1    Shaag, A.2    Glustein, J.Z.3    Anikster, Y.4    Joseph, A.5    Saada, A.6
  • 35
    • 20044389071 scopus 로고    scopus 로고
    • Correction of factor IX deficiency in mice by embryonic stem cells differentiated in vitro
    • doi: 10.1073/pnas.0409840102
    • Fair JH, Caims BA, LaPaglia MA, et al (2005) Correction of factor IX deficiency in mice by embryonic stem cells differentiated in vitro. PNAS 102(8): 2958-2963. doi: 10.1073/pnas.0409840102.
    • (2005) PNAS , vol.102 , Issue.8 , pp. 2958-2963
    • Fair, J.H.1    Caims, B.A.2    LaPaglia, M.A.3
  • 36
    • 0028199171 scopus 로고
    • Continuous venovenous haemofiltration in the acute treatment of inborn errors of metabolism
    • doi: 10.1007/BF00866350
    • Falk MC, Knight JF, Roy LP, et al (1994) Continuous venovenous haemofiltration in the acute treatment of inborn errors of metabolism. Pediatr Nephrol 8(3): 330-333. doi: 10.1007/BF00866350.
    • (1994) Pediatr Nephrol , vol.8 , Issue.3 , pp. 330-333
    • Falk, M.C.1    Knight, J.F.2    Roy, L.P.3
  • 37
    • 0026071565 scopus 로고
    • A 17-bp insertion and a phe215-to-cys missense mutation in the dihydrolipoyl (e2) mRNA from a thiamine-responsive maple syrup urine disease patient WG-34
    • doi: 10.1016/0006-291X(91)91489-Y
    • Fisher CW, Lau KS, Fisher CR, Wynn RM, Cox RP, Chuang DT (1991) A 17-bp insertion and a phe215-to-cys missense mutation in the dihydrolipoyl (e2) mRNA from a thiamine-responsive maple syrup urine disease patient WG-34. Biochem Biophys Res Commun 174: 804-809. doi: 10.1016/ 0006-291X(91)91489-Y.
    • (1991) Biochem Biophys Res Commun , vol.174 , pp. 804-809
    • Fisher, C.W.1    Lau, K.S.2    Fisher, C.R.3    Wynn, R.M.4    Cox, R.P.5    Chuang, D.T.6
  • 38
    • 0035090333 scopus 로고    scopus 로고
    • Molecular mechanisms in the brain involved in the anorexia of branched-chain amino acid deficiency
    • Gietzen DW, Magrum LJ (2001) Molecular mechanisms in the brain involved in the anorexia of branched-chain amino acid deficiency. J Nutr 131: 851s-855s.
    • (2001) J Nutr , vol.131
    • Gietzen, D.W.1    Magrum, L.J.2
  • 39
    • 2342591990 scopus 로고    scopus 로고
    • Attenuation of the alcohol preference of C57BL/6 mice during chronic renal failure
    • doi: 10.1016/j.lab.2004.01.010
    • Gooderham PA, Gagnon RF, Gill K (2004) Attenuation of the alcohol preference of C57BL/6 mice during chronic renal failure. J Lab Clin Med 143(5): 292-300. doi: 10.1016/j.lab.2004.01.010.
    • (2004) J Lab Clin Med , vol.143 , Issue.5 , pp. 292-300
    • Gooderham, P.A.1    Gagnon, R.F.2    Gill, K.3
  • 40
    • 0024436634 scopus 로고
    • Peritoneal dialysis in the treatment of metabolic crises caused by inherited disorders of organic and amino acid metabolism
    • doi: 10.1111/j.1651-2227.1989.tb11130.x
    • Gortner L, Leupold D, Pohlandt F, Bartmann P (1989) Peritoneal dialysis in the treatment of metabolic crises caused by inherited disorders of organic and amino acid metabolism. Acta Paediatr Scand 78: 706-711. doi: 10.1111/j.1651-2227.1989.tb11130.x.
    • (1989) Acta Paediatr Scand , vol.78 , pp. 706-711
    • Gortner, L.1    Leupold, D.2    Pohlandt, F.3    Bartmann, P.4
  • 41
    • 10744227058 scopus 로고    scopus 로고
    • Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations: Description of the first E3 splice site mutation
    • doi: 10.1007/s00431-003-1282-z
    • Grafakou O, Oexle K, Van den Heuvel L, et al (2003) Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations: Description of the first E3 splice site mutation. Eur J Pediatr 162: 714-718. doi: 10.1007/s00431-003-1282-z.
    • (2003) Eur J Pediatr , vol.162 , pp. 714-718
    • Grafakou, O.1    Oexle, K.2    Van den Heuvel, L.3
  • 42
    • 0017850625 scopus 로고
    • Maple syrup urine disease: Treatment of the acutely ill newborn
    • doi: 10.1007/BF00442159
    • Hammersen G, Wille L, Schmidt H, Lutz P, Bickel H (1978) Maple syrup urine disease: Treatment of the acutely ill newborn. Eur J Pediatr 129: 157-165. doi: 10.1007/BF00442159.
    • (1978) Eur J Pediatr , vol.129 , pp. 157-165
    • Hammersen, G.1    Wille, L.2    Schmidt, H.3    Lutz, P.4    Bickel, H.5
  • 43
    • 33645161455 scopus 로고    scopus 로고
    • Complete correction of hyperphenylalaninemia following liver-directed recombinant AAV2/8 vector-mediated gene therapy in murine phenylketonuria
    • doi: 10.1038/sj.gt.3302678
    • Harding CO, Gillingham MB, Hamman K, et al (2006) Complete correction of hyperphenylalaninemia following liver-directed recombinant AAV2/8 vector-mediated gene therapy in murine phenylketonuria. Gene Ther 13(5): p457-462. doi: 10.1038/sj.gt.3302678.
    • (2006) Gene Ther , vol.13 , Issue.5
    • Harding, C.O.1    Gillingham, M.B.2    Hamman, K.3
  • 45
    • 0023052779 scopus 로고
    • Maple syrup urine disease as a cause of spongiform encephalopathy in calves
    • Harper PA, Healy PJ, Dennis JA (1986) Maple syrup urine disease as a cause of spongiform encephalopathy in calves. Vet Rec 119(3): 62-65.
    • (1986) Vet Rec , vol.119 , Issue.3 , pp. 62-65
    • Harper, P.A.1    Healy, P.J.2    Dennis, J.A.3
  • 46
    • 0024616584 scopus 로고
    • Maple syrup urine disease in calves: A clinical pathological and biochemical study
    • doi: 10.1111/j.1751-0813.1989.tb03014.x
    • Harper PA, Dennis JA, Healy PJ, Brown GK (1989) Maple syrup urine disease in calves: A clinical pathological and biochemical study. Aust Vet J 66(2): 46-49. doi: 10.1111/j.1751-0813.1989.tb03014.x.
    • (1989) Aust Vet J , vol.66 , Issue.2 , pp. 46-49
    • Harper, P.A.1    Dennis, J.A.2    Healy, P.J.3    Brown, G.K.4
  • 47
    • 0345735297 scopus 로고    scopus 로고
    • Mechanisms responsible for regulation of branched-chain amino acid catabolism
    • doi: 10.1016/j.bbrc.2003.11.007
    • Harris RA, Joshi M, Jeoung NH (2004) Mechanisms responsible for regulation of branched-chain amino acid catabolism. Biochem Biophys Res Commun 313(2): 391-396. doi: 10.1016/j.bbrc.2003.11.007.
    • (2004) Biochem Biophys Res Commun , vol.313 , Issue.2 , pp. 391-396
    • Harris, R.A.1    Joshi, M.2    Jeoung, N.H.3
  • 48
    • 0022375562 scopus 로고
    • Physiological covalent regulation of rat liver branched-chain alpha-ketoacid dehydrogenase
    • doi: 10.1016/0003-9861(85)90531-4
    • Harris RA, Powell SM, Paxton R, Gillim SE, Nagae H (1985) Physiological covalent regulation of rat liver branched-chain alpha-ketoacid dehydrogenase. Arch Biochem Biophys 243(2): 542-555. doi: 10.1016/ 0003-9861(85)90531-4.
    • (1985) Arch Biochem Biophys , vol.243 , Issue.2 , pp. 542-555
    • Harris, R.A.1    Powell, S.M.2    Paxton, R.3    Gillim, S.E.4    Nagae, H.5
  • 49
    • 0028519299 scopus 로고
    • Molecular heterogeneity for bovine maple syrup urine disease
    • Healy PJ, Dennis JA (1994) Molecular heterogeneity for bovine maple syrup urine disease. Anim Genet 25(5): 329-332.
    • (1994) Anim Genet , vol.25 , Issue.5 , pp. 329-332
    • Healy, P.J.1    Dennis, J.A.2
  • 50
    • 0027472623 scopus 로고
    • The intellectual performance of patients with maple syrup urine disease (MSUD)
    • doi: 10.1007/BF02072492
    • Hilliges C, Awiszus D, Wendel U (1993) The intellectual performance of patients with maple syrup urine disease (MSUD). Eur J Pediatr 152: 144-147. doi: 10.1007/BF02072492.
    • (1993) Eur J Pediatr , vol.152 , pp. 144-147
    • Hilliges, C.1    Awiszus, D.2    Wendel, U.3
  • 51
    • 33646195697 scopus 로고    scopus 로고
    • Production and characterization of murine models of classic and intermediate maple syrup urine disease
    • Homanics GE, Skvorak K, Ferguson C, Watkins S, Paul HS (2006) Production and characterization of murine models of classic and intermediate maple syrup urine disease. BMC Med Genet 7: 33.
    • (2006) BMC Med Genet , vol.7 , pp. 33
    • Homanics, G.E.1    Skvorak, K.2    Ferguson, C.3    Watkins, S.4    Paul, H.S.5
  • 52
    • 0942266379 scopus 로고    scopus 로고
    • Identification of a common mutation (Gly194Cys) in both Arab Moslem and Ashkenazi Jewish patients with dihydrolipoamide dehydrogenase (E3) deficiency: Possible beneficial effect of vitamin therapy
    • doi: 10.1023/B:BOLI.0000010004.12053.5b
    • Hong YS, Korman SH, Lee J, et al (2003) Identification of a common mutation (Gly194Cys) in both Arab Moslem and Ashkenazi Jewish patients with dihydrolipoamide dehydrogenase (E3) deficiency: Possible beneficial effect of vitamin therapy J Inherit Metab Dis 26(8): 816-818. doi: 10.1023/B:BOLI.0000010004.12053.5b.
    • (2003) J Inherit Metab Dis , vol.26 , Issue.8 , pp. 816-818
    • Hong, Y.S.1    Korman, S.H.2    Lee, J.3
  • 53
    • 0027523237 scopus 로고
    • Identification of the mitochondrial branched chain aminotransferase as a branched chain alpha-keto acid transport protein
    • Hutson SM, Hall TR (1993) Identification of the mitochondrial branched chain aminotransferase as a branched chain alpha-keto acid transport protein. J Biol Chem 268(5): 3084-3091.
    • (1993) J Biol Chem , vol.268 , Issue.5 , pp. 3084-3091
    • Hutson, S.M.1    Hall, T.R.2
  • 54
    • 0031445917 scopus 로고    scopus 로고
    • Targeted disruption of the murine dihydrolipoyl dehydrogenase gene (Dld) results in perigastrulation lethality
    • doi: 10.1073/pnas.94.26.14512
    • Johnson MT, Yang H-S, Magnuson T, Patel MS (1997) Targeted disruption of the murine dihydrolipoyl dehydrogenase gene (Dld) results in perigastrulation lethality. Proc Natl Acad Sci U S A 94: 14512-14517. doi: 10.1073/pnas.94.26.14512.
    • (1997) Proc Natl Acad Sci U S A , vol.94 , pp. 14512-14517
    • Johnson, M.T.1    Yang, H.-S.2    Magnuson, T.3    Patel, M.S.4
  • 55
    • 0030748801 scopus 로고    scopus 로고
    • Continuous venovenous haemodiafiltration inthe acute phase of neonatal maple syrup urine disease
    • Jouvet P, Poggi F, Rabier D, et al (1997) Continuous venovenous haemodiafiltration inthe acute phase of neonatal maple syrup urine disease. J Inherit Metab Dis 20(4): 463-472. doi: 10.1023/ A:1005314025760.
    • (1997) J Inherit Metab Dis , vol.20 , Issue.4 , pp. 463-472
    • Jouvet, P.1    Poggi, F.2    Rabier, D.3
  • 56
    • 0026607375 scopus 로고
    • Abnormal dendritic development in maple syrup urine disease
    • doi: 10.1016/0887-8994(92)90038-Z
    • Kamei A, Takashima S, Chan F, Becker LE (1992) Abnormal dendritic development in maple syrup urine disease. Pediatr Neurol 8: 145-147. doi: 10.1016/0887-8994(92)90038-Z.
    • (1992) Pediatr Neurol , vol.8 , pp. 145-147
    • Kamei, A.1    Takashima, S.2    Chan, F.3    Becker, L.E.4
  • 57
    • 0025847951 scopus 로고
    • Intellectual outcome inchildren with maple syrup urine disease
    • doi: 10.1016/S0022-3476(05)81037-6
    • Kaplan P, Mazur A, Field M, et al (1991) Intellectual outcome inchildren with maple syrup urine disease. J Pediatr 119: 46-50. doi: 10.1016/ S0022-3476(05)81037-6.
    • (1991) J Pediatr , vol.119 , pp. 46-50
    • Kaplan, P.1    Mazur, A.2    Field, M.3
  • 58
    • 0029763587 scopus 로고    scopus 로고
    • Doxycycline-mediated quantitative and tissue-specific control of gene expression in transgenic mice
    • doi: 10.1073/pnas.93.20.10933
    • Kistner A, Gossen M, Zimmermann F, et al (1996) Doxycycline-mediated quantitative and tissue-specific control of gene expression in transgenic mice. Proc Natl Acad Sci U S A 93: 10933-10938. doi: 10.1073/ pnas.93.20.10933.
    • (1996) Proc Natl Acad Sci U S A , vol.93 , pp. 10933-10938
    • Kistner, A.1    Gossen, M.2    Zimmermann, F.3
  • 59
    • 12144290495 scopus 로고    scopus 로고
    • Mice deficient in dihydrolipoamide dehydrogenase show increased vulnerability to MPTP malonate and 3-nitropropionic acid neurotoxicity
    • doi: 10.1046/j.1471-4159.2003.02160.x
    • Klivenyi P, Starkov AA, Calingasan NY, et al (2004) Mice deficient in dihydrolipoamide dehydrogenase show increased vulnerability to MPTP malonate and 3-nitropropionic acid neurotoxicity. J Neurochem 88: 1352-1360. doi: 10.1046/j.1471-4159.2003.02160.x.
    • (2004) J Neurochem , vol.88 , pp. 1352-1360
    • Klivenyi, P.1    Starkov, A.A.2    Calingasan, N.Y.3
  • 60
    • 0028534941 scopus 로고
    • Maple syrup urine disease: Clinical EEG and plasma amino acid correlations with a theoretical mechanism of acute neurotoxicity
    • Korein J, Sansaricq C, Kalmijn M, Honig J, Lange B (1994) Maple syrup urine disease: Clinical EEG and plasma amino acid correlations with a theoretical mechanism of acute neurotoxicity. Int J Neurosci 79(1-2): 21-45.
    • (1994) Int J Neurosci , vol.79 , Issue.1-2 , pp. 21-45
    • Korein, J.1    Sansaricq, C.2    Kalmijn, M.3    Honig, J.4    Lange, B.5
  • 61
    • 0037224768 scopus 로고    scopus 로고
    • The role of leucine in weight loss diets and glucose homeostasis
    • Layman DK (2003) The role of leucine in weight loss diets and glucose homeostasis. J Nutr 133: 261S-267S.
    • (2003) J Nutr , vol.133
    • Layman, D.K.1
  • 62
    • 0017337989 scopus 로고
    • Neutral amino acid transport. Characterization of the A and L systems in isolated rat hepatocytes
    • Le Cam A, Freychet P (1977) Neutral amino acid transport. Characterization of the A and L systems in isolated rat hepatocytes. J Biol Chem 252: 148-156.
    • (1977) J Biol Chem , vol.252 , pp. 148-156
    • Le Cam, A.1    Freychet, P.2
  • 63
    • 0036762913 scopus 로고    scopus 로고
    • Management of acute decompensation of neonatal maple syrup urine disease with continuous arteriovenous haemofiltration: Report of one case
    • Lin MC, Chen CH, Fu L, Jan SL, Shu SG, Chi CS (2002) Management of acute decompensation of neonatal maple syrup urine disease with continuous arteriovenous haemofiltration: Report of one case. Acta Paediatr Taiwan 43(5): 281-284.
    • (2002) Acta Paediatr Taiwan , vol.43 , Issue.5 , pp. 281-284
    • Lin, M.C.1    Chen, C.H.2    Fu, L.3    Jan, S.L.4    Shu, S.G.5    Chi, C.S.6
  • 64
    • 0001158508 scopus 로고
    • Maple syrup urine disease in the old order Mennonites
    • Marshall L, Di George (1981) Maple syrup urine disease in the old order Mennonites. Am J Hum Genet 33: 139a.
    • (1981) Am J Hum Genet , vol.33
    • Marshall, L.1    Di, G.2
  • 66
    • 0025580717 scopus 로고
    • Clearance of branched chain amino acids by peritoneal dialysis in maple syrup urine disease
    • McMahon Y, MacDonnell RCJ (1990) Clearance of branched chain amino acids by peritoneal dialysis in maple syrup urine disease. Adv Perit Dial 6: 31-34.
    • (1990) Adv Perit Dial , vol.6 , pp. 31-34
    • McMahon, Y.1    MacDonnell, R.C.J.2
  • 67
    • 0001468282 scopus 로고
    • A new syndrome: Progressive familial infantile cerebral dysfunction associated with an unusual urinary substance
    • Menkes J, Hurst P, Craig J (1954) A new syndrome: Progressive familial infantile cerebral dysfunction associated with an unusual urinary substance. Pediatrics 14: 462-466.
    • (1954) Pediatrics , vol.14 , pp. 462-466
    • Menkes, J.1    Hurst, P.2    Craig, J.3
  • 68
    • 0025230826 scopus 로고
    • Postmortem changes in mitochondrial respiratory enzymes in brain and a preliminary observation in Parkinson's disease
    • doi: 10.1016/0022-510X(90)90056-S
    • Mizuno Y, Suzuki K, Ohta S (1990) Postmortem changes in mitochondrial respiratory enzymes in brain and a preliminary observation in Parkinson's disease. J Neurol Sci 96: 49-57. doi: 10.1016/ 0022-510X(90)90056-S.
    • (1990) J Neurol Sci , vol.96 , pp. 49-57
    • Mizuno, Y.1    Suzuki, K.2    Ohta, S.3
  • 69
    • 0036264313 scopus 로고    scopus 로고
    • Diagnosis and treatment of maple syrup urine disease: A study of 36 patients
    • doi: 10.1542/peds.109.6.999
    • Morton DH, Strauss KA, Robinson DL, Puffenberger EG, Kelley RI (2002) Diagnosis and treatment of maple syrup urine disease: A study of 36 patients. Pediatrics 109(6): 999-1008. doi: 10.1542/peds.109.6.999.
    • (2002) Pediatrics , vol.109 , Issue.6 , pp. 999-1008
    • Morton, D.H.1    Strauss, K.A.2    Robinson, D.L.3    Puffenberger, E.G.4    Kelley, R.I.5
  • 70
    • 64449089062 scopus 로고    scopus 로고
    • MSUD Family Support Group MSUD Family Support Group Symposium, Dublin, OH, USA. June 15-17
    • MSUD Family Support Group (2006a) Breakout Session: Teaching Self Care/ Management. MSUD Family Support Group Symposium, Dublin, OH, USA. June 15-17.
    • (2006) Breakout Session: Teaching Self Care/Management
  • 71
    • 64449088946 scopus 로고    scopus 로고
    • MSUD Family Support Group MSUD Family Support Group Symposium, Dublin, OH, USA. June 15-17
    • MSUD Family Support Group (2006b) Group Meet and Greet/Reception. MSUD Family Support Group Symposium, Dublin, OH, USA. June 15-17.
    • (2006) Group Meet and Greet/Reception
  • 72
    • 0029098859 scopus 로고
    • Complementation of defective leucine decarboxylation in fibroblasts from a maple syrup urine disease patient by retrovirus-mediated gene transfer
    • Mueller GM, McKenzie LR, Homanics GE, Watkins SC, Robbins PD, Paul HS (1995) Complementation of defective leucine decarboxylation in fibroblasts from a maple syrup urine disease patient by retrovirus-mediated gene transfer. Gene Ther 2(7): 461-468.
    • (1995) Gene Ther , vol.2 , Issue.7 , pp. 461-468
    • Mueller, G.M.1    McKenzie, L.R.2    Homanics, G.E.3    Watkins, S.C.4    Robbins, P.D.5    Paul, H.S.6
  • 73
    • 0023810546 scopus 로고
    • Regulation of messenger ribonucleic acid levels for five urea cycle enzymes in cultured rat hepatocytes Requirements for cyclic adenosine monophosphate glucocorticoids and ongoing protein synthesis
    • Nebes VL, Morris SMJ (1988) Regulation of messenger ribonucleic acid levels for five urea cycle enzymes in cultured rat hepatocytes Requirements for cyclic adenosine monophosphate glucocorticoids and ongoing protein synthesis. Mol Endocrinol 2(5): 444-451.
    • (1988) Mol Endocrinol , vol.2 , Issue.5 , pp. 444-451
    • Nebes, V.L.1    Morris, S.M.J.2
  • 74
    • 0028065296 scopus 로고
    • Mid-term outcome of 2 cases with maple syrup urine disease: Role of liver transplantation in the treatment
    • Netter JC, Cossarizza G, Narcy C, et al (1994) Mid-term outcome of 2 cases with maple syrup urine disease: Role of liver transplantation in the treatment. Arch Pediatr 1: 730-734.
    • (1994) Arch Pediatr , vol.1 , pp. 730-734
    • Netter, J.C.1    Cossarizza, G.2    Narcy, C.3
  • 75
    • 0030740694 scopus 로고    scopus 로고
    • Nutritional role of the leucine metabolite β-hydroxy β-methylbutyrate (HMB)
    • doi: 10.1016/S0955-2863(97)00048-X
    • Nissen SL, Abumrad NN (1997) Nutritional role of the leucine metabolite β-hydroxy β-methylbutyrate (HMB). J Nutr Biochem 8: 300-311 doi: 10.1016/S0955-2863(97)00048-X.
    • (1997) J Nutr Biochem , vol.8 , pp. 300-311
    • Nissen, S.L.1    Abumrad, N.N.2
  • 76
    • 0024333875 scopus 로고
    • Complete primary structure of the transacylase (E2b) subunit of the human branched chain alpha-keto acid dehydrogenase complex
    • doi: 10.1016/0006-291X(89)91347-8
    • Nobukuni Y, Mitsubuchi H, Endo F, Matsuda I (1989) Complete primary structure of the transacylase (E2b) subunit of the human branched chain alpha-keto acid dehydrogenase complex. Biochem Biophys Res Commun 161: 1035-1041. doi: 10.1016/0006-291X(89)91347-8.
    • (1989) Biochem Biophys Res Commun , vol.161 , pp. 1035-1041
    • Nobukuni, Y.1    Mitsubuchi, H.2    Endo, F.3    Matsuda, I.4
  • 77
    • 0025325404 scopus 로고
    • Maple syrup urine disease: Complete primary structure of the E1-beta subunit of human branched-chain alpha-ketoacid dehydrogenase complex deduced from the nucleotide sequence and a gene analysis of patients with this disease
    • doi: 10.1172/JCI114690
    • Nobukuni Y, Mitsubuchi H, Endo F, Akaboshi I, Asaka J, Matsuda I (1990) Maple syrup urine disease: Complete primary structure of the E1-beta subunit of human branched-chain alpha-ketoacid dehydrogenase complex deduced from the nucleotide sequence and a gene analysis of patients with this disease. J Clin Invest 86: 242-247. doi: 10.1172/JCI114690.
    • (1990) J Clin Invest , vol.86 , pp. 242-247
    • Nobukuni, Y.1    Mitsubuchi, H.2    Endo, F.3    Akaboshi, I.4    Asaka, J.5    Matsuda, I.6
  • 78
    • 0036304671 scopus 로고    scopus 로고
    • Branched-chain organic acidurias
    • doi: 10.1053/siny.2001.0087
    • Ogier de Baulny H, Saudubray JM (2002) Branched-chain organic acidurias. Semin Neonatol 7(1): 65-74. doi: 10.1053/siny.2001.0087.
    • (2002) Semin Neonatol , vol.7 , Issue.1 , pp. 65-74
    • Ogier de Baulny, H.1    Saudubray, J.M.2
  • 79
    • 0001437616 scopus 로고    scopus 로고
    • Bidirectional modulation of insulin action by amino acids
    • doi: 10.1172/JCI1326
    • Patti ME, Brambilla E, Luzi L, Landaker EJ, Kahn CR (1998) Bidirectional modulation of insulin action by amino acids. JClin Invest 101: 1519-1529. doi: 10.1172/JCI1326.
    • (1998) JClin Invest , vol.101 , pp. 1519-1529
    • Patti, M.E.1    Brambilla, E.2    Luzi, L.3    Landaker, E.J.4    Kahn, C.R.5
  • 80
    • 0020479872 scopus 로고
    • Isolation of rabbit liver branched-chain α-keto dehydrogenase and regulation by phosphorylatio
    • Paxton R, Harris R (1982) Isolation of rabbit liver branched-chain α-keto dehydrogenase and regulation by phosphorylatio. J Biol Chem 257: 14433-14439.
    • (1982) J Biol Chem , vol.257 , pp. 14433-14439
    • Paxton, R.1    Harris, R.2
  • 81
    • 0022586416 scopus 로고
    • Phosphorylation sites and inactivation of branched-chain α-keto acid dehydrogenase from rat heart bovine kidney and rabbit liver kidney heart brain and skeletal muscle
    • doi: 10.1016/0003-9861(86)90108-6
    • Paxton R, Kuntz MJ, Harris R (1986) Phosphorylation sites and inactivation of branched-chain α-keto acid dehydrogenase from rat heart bovine kidney and rabbit liver kidney heart brain and skeletal muscle. Arch Biochem Biophys 244: 187-201. doi: 10.1016/ 0003-9861(86)90108-6.
    • (1986) Arch Biochem Biophys , vol.244 , pp. 187-201
    • Paxton, R.1    Kuntz, M.J.2    Harris, R.3
  • 82
    • 0028343663 scopus 로고
    • Maple syrup urine disease 1954-1993
    • doi: 10.1007/BF00735389
    • Peinemann F, Danner DJ (1994) Maple syrup urine disease 1954-1993. J Inherit Metab Dis 17: 3-15. doi: 10.1007/BF00735389.
    • (1994) J Inherit Metab Dis , vol.17 , pp. 3-15
    • Peinemann, F.1    Danner, D.J.2
  • 83
    • 0023968152 scopus 로고
    • Cloning and cDNA sequence of the dihydrolipoamide dehydrogenase component of human alpha-ketoacid dehydrogenase complexes
    • doi: 10.1073/pnas.85.5.1422
    • Pons G, Raefsky-Estrin C, Carothers DJ, et al (1988) Cloning and cDNA sequence of the dihydrolipoamide dehydrogenase component of human alpha-ketoacid dehydrogenase complexes. Proc Natl Acad Sci U S A 85: 1422-1426. doi: 10.1073/pnas.85.5.1422.
    • (1988) Proc Natl Acad Sci U S A , vol.85 , pp. 1422-1426
    • Pons, G.1    Raefsky-Estrin, C.2    Carothers, D.J.3
  • 84
    • 0026772495 scopus 로고
    • Branched-chain alpha-ketoacid dehydrogenase kinase. Molecular cloning expression and sequence similarity with histidine protein kinases
    • Popov KM, Zhao Y, Shimomura Y, Kuntz MJ, Harris RA (1992) Branched-chain alpha-ketoacid dehydrogenase kinase. Molecular cloning expression and sequence similarity with histidine protein kinases. J Biol Chem 267: 13127-13130.
    • (1992) J Biol Chem , vol.267 , pp. 13127-13130
    • Popov, K.M.1    Zhao, Y.2    Shimomura, Y.3    Kuntz, M.J.4    Harris, R.A.5
  • 85
    • 38849131982 scopus 로고    scopus 로고
    • Emerging trends in transplantation of inherited metabolic diseases
    • doi: 10.1038/sj.bmt.1705970
    • Prasad VK, Kurtzberg J (2008) Emerging trends in transplantation of inherited metabolic diseases. Bone Marrow Transplant 41(2): 99-108. doi: 10.1038/sj.bmt.1705970.
    • (2008) Bone Marrow Transplant , vol.41 , Issue.2 , pp. 99-108
    • Prasad, V.K.1    Kurtzberg, J.2
  • 86
    • 0036952137 scopus 로고    scopus 로고
    • Utility of hemodialysis in maple syrup urine disease
    • doi: 10.1007/s00467-001-0801-2
    • Puliyanda DP, Harmon WE, Peterschmitt MJ, Irons M, Somers MJ (2002) Utility of hemodialysis in maple syrup urine disease. Pediatr Nephrol 17(4): 239-242. doi: 10.1007/s00467-001-0801-2.
    • (2002) Pediatr Nephrol , vol.17 , Issue.4 , pp. 239-242
    • Puliyanda, D.P.1    Harmon, W.E.2    Peterschmitt, M.J.3    Irons, M.4    Somers, M.J.5
  • 87
    • 0022453949 scopus 로고
    • Dihydrolipoyl dehydrogenase deficiency: A therapeutic trial with branched-chain amino acid restriction
    • doi: 10.1007/BF00439399
    • Sakaguchi Y, Yoshino M, Aramaki S, et al (1986) Dihydrolipoyl dehydrogenase deficiency: A therapeutic trial with branched-chain amino acid restriction. Eur J Pediatr 145: 271-274. doi: 10.1007/BF00439399.
    • (1986) Eur J Pediatr , vol.145 , pp. 271-274
    • Sakaguchi, Y.1    Yoshino, M.2    Aramaki, S.3
  • 88
    • 0014693222 scopus 로고
    • Peritoneal dialysis in maple syrup urine disease
    • doi: 10.1016/S0140-6736(69)90961-1
    • Sallan SE, Cottom D (1969) Peritoneal dialysis in maple syrup urine disease. Lancet 294(7635): 1423-1424. doi: 10.1016/S0140-6736(69)90961-1.
    • (1969) Lancet , vol.294 , Issue.7635 , pp. 1423-1424
    • Sallan, S.E.1    Cottom, D.2
  • 89
    • 0021210996 scopus 로고
    • Hudson memorial lecture. Neonatal management of organic acidurias. Clinical update
    • Saudubray JM, Ogier H, Charpentier C, et al (1984) Hudson memorial lecture. Neonatal management of organic acidurias. Clinical update. J Inherit Metab Dis 7(Supplement): 2-9.
    • (1984) J Inherit Metab Dis , vol.7 , Issue.SUPPL. , pp. 2-9
    • Saudubray, J.M.1    Ogier, H.2    Charpentier, C.3
  • 90
    • 31344482641 scopus 로고    scopus 로고
    • Metabolism of branched-chain amino acids in maple syrup urine disease
    • doi: 10.1007/PL00014274
    • Schadewaldt P, Wendel U (1997) Metabolism of branched-chain amino acids in maple syrup urine disease. Eur J Pediatr 156(Supplement 1): S62-6. doi: 10.1007/PL00014274.
    • (1997) Eur J Pediatr , vol.156 , Issue.SUPPL. 1
    • Schadewaldt, P.1    Wendel, U.2
  • 91
    • 0025760082 scopus 로고
    • Localization of the human dihydrolipoamide dehydrogenase gene (DLD) to 7q31-q32
    • doi: 10.1159/000133081
    • Scherer SW, Otulakowski G, Robinson BH, Tsui L-C (1991) Localization of the human dihydrolipoamide dehydrogenase gene (DLD) to 7q31-q32. Cytogenet Cell Genet 56: 176-177. doi: 10.1159/000133081.
    • (1991) Cytogenet Cell Genet , vol.56 , pp. 176-177
    • Scherer, S.W.1    Otulakowski, G.2    Robinson, B.H.3    Tsui, L.-C.4
  • 92
    • 0023213560 scopus 로고
    • Transcription activation of the tyrosine aminotransferase gene by glucocorticoids and cAMP in primary hepatocytes
    • doi: 10.1111/j.1432-1033.1987.tb11467.x
    • Schmid E, Schmid W, Jantzen M, Mayer D, Jastorff B, Schütz G (1987) Transcription activation of the tyrosine aminotransferase gene by glucocorticoids and cAMP in primary hepatocytes. Eur J Biochem 165(3): 499-506. doi: 10.1111/j.1432-1033.1987.tb11467.x.
    • (1987) Eur J Biochem , vol.165 , Issue.3 , pp. 499-506
    • Schmid, E.1    Schmid, W.2    Jantzen, M.3    Mayer, D.4    Jastorff, B.5    Schütz, G.6
  • 93
    • 0015221492 scopus 로고
    • Thiamine-responsive maple-syrup-urine disease
    • doi: 10.1016/S0140-6736(71)91041-5
    • Scriver CR, MacKenzie S, Clow CL, Delvin E (1971) Thiamine-responsive maple-syrup-urine disease. Lancet 297(7694): 310-312. doi: 10.1016/ S0140-6736(71)91041-5.
    • (1971) Lancet , vol.297 , Issue.7694 , pp. 310-312
    • Scriver, C.R.1    MacKenzie, S.2    Clow, C.L.3    Delvin, E.4
  • 94
    • 0022249030 scopus 로고
    • So-called thiamin-responsive maple syrup urine disease: A 15-year follow-up of the original patient
    • Scriver CR, Clow CL, George H (1985) So-called thiamin-responsive maple syrup urine disease: A 15-year follow-up of the original patient. J Pediatr 107: 763-765.
    • (1985) J Pediatr , vol.107 , pp. 763-765
    • Scriver, C.R.1    Clow, C.L.2    George, H.3
  • 95
    • 0033555479 scopus 로고    scopus 로고
    • Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews
    • doi: 10.1002/ (SICI)1096-8628(19990115)82:2<177::AID-AJMG15>3.0.CO;2-9
    • Shaag A, Saada A, Berger I, et al (1999) Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews. Am J Med Genet 82: 177-182. doi: 10.1002/ (SICI)1096-8628(19990115)82:2<177::AID-AJMG15>3.0.CO;2-9.
    • (1999) Am J Med Genet , vol.82 , pp. 177-182
    • Shaag, A.1    Saada, A.2    Berger, I.3
  • 96
    • 44149117753 scopus 로고    scopus 로고
    • Murine embryonic stem cell-derived hepatic progenitor cells engraft in recipient livers with limited capacity of liver tissue formation
    • Sharma AD, Cantz T, Vogel A, et al (2008) Murine embryonic stem cell-derived hepatic progenitor cells engraft in recipient livers with limited capacity of liver tissue formation. Cell Transplant 17(3): 313-323.
    • (2008) Cell Transplant , vol.17 , Issue.3 , pp. 313-323
    • Sharma, A.D.1    Cantz, T.2    Vogel, A.3
  • 97
    • 64449085118 scopus 로고    scopus 로고
    • Deletion of BCATm leads to loss TORC1 signaling in response to Leu and {alpha}-ketoisocaproate (KIC) but not insulin
    • She P, Bronson SK, Vary TC, Carrel L, Hutson SM, Lynch CJ (2007a) Deletion of BCATm leads to loss TORC1 signaling in response to Leu and {alpha}-ketoisocaproate (KIC) but not insulin. FASEB J 21: 73816.
    • (2007) FASEB J , vol.21 , pp. 73816
    • She, P.1    Bronson, S.K.2    Vary, T.C.3    Carrel, L.4    Hutson, S.M.5    Lynch, C.J.6
  • 98
    • 34548251464 scopus 로고    scopus 로고
    • Disruption of BCATm in mice leads to increased energy expenditure associated with the activation of a futile protein turnover cycle
    • doi: 10.1016/j.cmet.2007.08.003
    • She P, Reid TM, Bronson SK, et al (2007b) Disruption of BCATm in mice leads to increased energy expenditure associated with the activation of a futile protein turnover cycle. Cell Metab 6: 181-194. doi: 10.1016/ j.cmet.2007.08.003.
    • (2007) Cell Metab , vol.6 , pp. 181-194
    • She, P.1    Reid, T.M.2    Bronson, S.K.3
  • 99
    • 0025608883 scopus 로고
    • Purification and partial characterization of branched-chain alpha-ketoacid dehydrogenase kinase from rat liver and rat heart
    • doi: 10.1016/0003-9861(90)90645-F
    • Shimomura Y, Nanaumi N, Suzuki M, Popov KM, Harris RA (1990) Purification and partial characterization of branched-chain alpha-ketoacid dehydrogenase kinase from rat liver and rat heart. Arch Biochem Biophys 283: 293-299. doi: 10.1016/0003-9861(90)90645-F.
    • (1990) Arch Biochem Biophys , vol.283 , pp. 293-299
    • Shimomura, Y.1    Nanaumi, N.2    Suzuki, M.3    Popov, K.M.4    Harris, R.A.5
  • 100
    • 0346040224 scopus 로고    scopus 로고
    • A novel deletion creating a new terminal exon of the dihydrolipoyl transacylase gene is a founder mutation of Filipino maple syrup urine disease
    • doi: 10.1016/j.ymgme.2003.10.006
    • Silao CL, Padilla C, Matsuo M (2004) A novel deletion creating a new terminal exon of the dihydrolipoyl transacylase gene is a founder mutation of Filipino maple syrup urine disease. Mol Genet Metab 81(2): 100-104. doi: 10.1016/j.ymgme.2003.10.006.
    • (2004) Mol Genet Metab , vol.81 , Issue.2 , pp. 100-104
    • Silao, C.L.1    Padilla, C.2    Matsuo, M.3
  • 101
    • 0347471011 scopus 로고
    • Neuropathological observations in maple syrup urine disease: Branched-chain ketoaciduria
    • Silberman J, Dancis J, Feignin I (1961) Neuropathological observations in maple syrup urine disease: Branched-chain ketoaciduria. Arch Neurol 5: 351-363.
    • (1961) Arch Neurol , vol.5 , pp. 351-363
    • Silberman, J.1    Dancis, J.2    Feignin, I.3
  • 102
    • 64449083063 scopus 로고    scopus 로고
    • Amino acid and neurotransmitter abnormalities in murine intermediate maple syrup urine disease (iMSUD): Significant improvement of cerebral dopamine and serotonin deficiency with hepatocyte transplantation (HTx)
    • In: Lisbon, Portugal
    • Skvorak KJ, Homanics GE, Paul HS, et al (2008a) Amino acid and neurotransmitter abnormalities in murine intermediate maple syrup urine disease (iMSUD): Significant improvement of cerebral dopamine and serotonin deficiency with hepatocyte transplantation (HTx). In: Society for the Study of Inborn Errors of Metabolism Annual Symposium 2008, Lisbon, Portugal.
    • (2008) Society for the Study of Inborn Errors of Metabolism Annual Symposium 2008
    • Skvorak, K.J.1    Homanics, G.E.2    Paul, H.S.3
  • 103
    • 64449083289 scopus 로고    scopus 로고
    • Hepatocyte transplantation (HTx) extends lifespan increases branched chain α-keto acid dehydrogenase (BCKDH) activity and improves amino acid profiles in a murine model of intermediate maple syrup urine disease (iMSUD)
    • In: Lisbon, Portugal
    • Skvorak KJ, Paul HS, Dorko K, et al (2008b) Hepatocyte transplantation (HTx) extends lifespan increases branched chain α-keto acid dehydrogenase (BCKDH) activity and improves amino acid profiles in a murine model of intermediate maple syrup urine disease (iMSUD). In: Society for the Study of Inborn Errors of Metabolism Annual Symposium 2008, Lisbon, Portugal.
    • (2008) Society for the Study of Inborn Errors of Metabolism Annual Symposium 2008
    • Skvorak, K.J.1    Paul, H.S.2    Dorko, K.3
  • 104
    • 84995046159 scopus 로고
    • Treatment outcome of maple syrup urine disease
    • Snyderman S (1988) Treatment outcome of maple syrup urine disease. Acta Paediatr Jpn 30: 417-424.
    • (1988) Acta Paediatr Jpn , vol.30 , pp. 417-424
    • Snyderman, S.1
  • 105
    • 0001760204 scopus 로고
    • Maple syrup urine disease with particular reference to dietotherapy
    • Snyderman SE, Norton PM, Roitman E, Holt LEJ (1964) Maple syrup urine disease with particular reference to dietotherapy. Pediatrics 34: 454-462.
    • (1964) Pediatrics , vol.34 , pp. 454-462
    • Snyderman, S.E.1    Norton, P.M.2    Roitman, E.3    Holt, L.E.J.4
  • 106
    • 0024461885 scopus 로고
    • Activities of branched-chain amino acid-degrading enzymes in liver from rats fed different dietary levels of protein
    • Soemitro S, Block KP, Crowell PL, Harper AE (1989) Activities of branched-chain amino acid-degrading enzymes in liver from rats fed different dietary levels of protein. J Nutr 119(8): 1203-1212.
    • (1989) J Nutr , vol.119 , Issue.8 , pp. 1203-1212
    • Soemitro, S.1    Block, K.P.2    Crowell, P.L.3    Harper, A.E.4
  • 107
    • 33644892168 scopus 로고    scopus 로고
    • Elective liver transplantation for the treatment of classical maple syrup urine disease
    • doi: 10.1111/j.1600-6143.2005.01209.x
    • Strauss KA, Mazariegos GV, Sindhi R, et al (2006) Elective liver transplantation for the treatment of classical maple syrup urine disease. Am J Transplant 6(3): 557-564. doi: 10.1111/ j.1600-6143.2005.01209.x.
    • (2006) Am J Transplant , vol.6 , Issue.3 , pp. 557-564
    • Strauss, K.A.1    Mazariegos, G.V.2    Sindhi, R.3
  • 108
    • 0028217613 scopus 로고
    • The 5′ flanking region of the rat LAP (C/EBP beta) gene can redirect high-level position-independent copy number-dependent expression in multiple tissues in transgenic mice
    • doi: 10.1093/nar/22.5.756
    • Talbot D, Descombes P, Schibler U (1994) The 5′ flanking region of the rat LAP (C/EBP beta) gene can redirect high-level position-independent copy number-dependent expression in multiple tissues in transgenic mice. Nucleic Acids Res 22: 756-766. doi: 10.1093/ nar/22.5.756.
    • (1994) Nucleic Acids Res , vol.22 , pp. 756-766
    • Talbot, D.1    Descombes, P.2    Schibler, U.3
  • 109
    • 0026605461 scopus 로고
    • Oxidation of leucine and alpha-ketoisocaproate to β-hydroxy-β-methylbutyrate in vivo
    • Van Koevering M, Nissen SL (1992) Oxidation of leucine and alpha-ketoisocaproate to β-hydroxy-β-methylbutyrate in vivo. Am J Physiol Endocrinol Metab 262: 27-31.
    • (1992) Am J Physiol Endocrinol Metab , vol.262 , pp. 27-31
    • Van Koevering, M.1    Nissen, S.L.2
  • 110
    • 0141676472 scopus 로고    scopus 로고
    • Compartmentation of glutamine glutamate and GABA metabolism in neurons and astrocytes: Functional implications
    • doi: 10.1177/1073858403254006
    • Waagepetersen HS, Sonnewald U, Schousboe A (2003) Compartmentation of glutamine glutamate and GABA metabolism in neurons and astrocytes: functional implications. Neuroscientist 9(5): 398-403. doi: 10.1177/ 1073858403254006.
    • (2003) Neuroscientist , vol.9 , Issue.5 , pp. 398-403
    • Waagepetersen, H.S.1    Sonnewald, U.2    Schousboe, A.3
  • 111
    • 0033913801 scopus 로고    scopus 로고
    • Reduction oflarge neutral amino acid concentrations in plasma and CSF of patients with maple syrup urine disease during crises
    • doi: 10.1023/A:1005668431926
    • Wajner M, Coelho DM, Barschak AG, et al (2000) Reduction oflarge neutral amino acid concentrations in plasma and CSF of patients with maple syrup urine disease during crises. J Inherit Metab Dis 23: 505-512. doi: 10.1023/A:1005668431926.
    • (2000) J Inherit Metab Dis , vol.23 , pp. 505-512
    • Wajner, M.1    Coelho, D.M.2    Barschak, A.G.3
  • 112
    • 0035011483 scopus 로고    scopus 로고
    • Acidification and glucocorticoids independently regulate branched-chain alpha-ketoacid dehydrogenase subunit genes
    • Wang X, Chinsky JM, Costeas PA, Price SR (2001) Acidification and glucocorticoids independently regulate branched-chain alpha-ketoacid dehydrogenase subunit genes. Am J Physiol Cell Physiol 280(5): C1176-C1183.
    • (2001) Am J Physiol Cell Physiol , vol.280 , Issue.5
    • Wang, X.1    Chinsky, J.M.2    Costeas, P.A.3    Price, S.R.4
  • 113
    • 0019380147 scopus 로고
    • A survey of inborn errors of amino acid metabolism and transport in man
    • doi: 10.1146/annurev.bi.50.070181.004403
    • Wellner D, Meister A (1981) A survey of inborn errors of amino acid metabolism and transport in man. Annu Rev Biochem 50: 911-968. doi: 10.1146/annurev.bi.50.070181.004403.
    • (1981) Annu Rev Biochem , vol.50 , pp. 911-968
    • Wellner, D.1    Meister, A.2
  • 114
    • 0019955409 scopus 로고
    • Exchange tranfusion in acute episodes of maple syrup urine disease - Studies on branched-chain amino and keto acids
    • doi: 10.1007/BF00442499
    • Wendel U, Langenbeck U, Lombeck I, Bremer HJ (1982) Exchange tranfusion in acute episodes of maple syrup urine disease - studies on branched-chain amino and keto acids. Eur J Pediatr 138: 293-296. doi: 10.1007/BF00442499.
    • (1982) Eur J Pediatr , vol.138 , pp. 293-296
    • Wendel, U.1    Langenbeck, U.2    Lombeck, I.3    Bremer, H.J.4
  • 115
    • 0032731258 scopus 로고    scopus 로고
    • Liver transplantation in maple syrup urine disease
    • doi: 10.1007/PL00014324
    • Wendel U, Saudubray JM, Bodner A, Schadewaldt P (1999) Liver transplantation in maple syrup urine disease. Eur J Pediatr 158(Supplement 2): S60-64. doi: 10.1007/PL00014324.
    • (1999) Eur J Pediatr , vol.158 , Issue.SUPPL. 2
    • Wendel, U.1    Saudubray, J.M.2    Bodner, A.3    Schadewaldt, P.4
  • 116
    • 64449087105 scopus 로고    scopus 로고
    • [website] 2008 Sept 16 [accessed 2008 Oct 1]; Available from
    • Williams D (2008) US National Screening Status Report [website] 2008 Sept 16 [accessed 2008 Oct 1]; Available from: http://genes-r-usuthscsaedu/nbsdisorderspdf.
    • (2008) US National Screening Status Report
    • Williams, D.1
  • 117
    • 39449139944 scopus 로고    scopus 로고
    • Effects of beta-hydroxy-beta-methylbutyrate (HMB) on exercise performance and body composition across varying levels of age sex and training experience: A review
    • doi: 10.1186/1743-7075-5-1
    • Wilson GJ, Wilson JM, Manninen AH (2008) Effects of beta-hydroxy-beta-methylbutyrate (HMB) on exercise performance and body composition across varying levels of age sex and training experience: A review. Nutr Metab (Lond) 5: 1. doi: 10.1186/1743-7075-5-1.
    • (2008) Nutr Metab (Lond) , vol.5 , pp. 1
    • Wilson, G.J.1    Wilson, J.M.2    Manninen, A.H.3
  • 118
    • 85047690932 scopus 로고    scopus 로고
    • ENU mutagenesis identifies mice with mitochondrial branched-chain aminotransferase deficiency resembling human maple syrup urine disease
    • Wu JY, Kao HJ, Li SC, et al (2004) ENU mutagenesis identifies mice with mitochondrial branched-chain aminotransferase deficiency resembling human maple syrup urine disease. J Clin Invest 113: 434-440.
    • (2004) J Clin Invest , vol.113 , pp. 434-440
    • Wu, J.Y.1    Kao, H.J.2    Li, S.C.3
  • 119
    • 0024578239 scopus 로고
    • The 2-oxo acid dehydrogenase complexes: Recent advances
    • Yeaman S (1989) The 2-oxo acid dehydrogenase complexes: Recent advances. Biochem J 257: 625-632.
    • (1989) Biochem J , vol.257 , pp. 625-632
    • Yeaman, S.1
  • 120
    • 0033028968 scopus 로고    scopus 로고
    • Management of acute metabolic decompensation in maple syrup urine disease: A multi-center study
    • doi: 10.1046/j.1442-200X.1999.4121044.x
    • Yoshino M, Aoki K, Akeda H, et al (1999) Management of acute metabolic decompensation in maple syrup urine disease: A multi-center study. Pediatr Int 41(2): 132-137. doi: 10.1046/j.1442-200X.1999.4121044.x.
    • (1999) Pediatr Int , vol.41 , Issue.2 , pp. 132-137
    • Yoshino, M.1    Aoki, K.2    Akeda, H.3
  • 121
    • 0031239010 scopus 로고    scopus 로고
    • Brain metabolims of branched-chain amino acids
    • doi: 10.1002/(SICI)1098-1136(199709)21:1<92::AID-GLIA10>3.0.CO;2-W
    • Yudkoff M (1997) Brain metabolims of branched-chain amino acids. Glia 21: 92-98. doi: 10.1002/ (SICI)1098-1136(199709)21:1<92::AID-GLIA10>3.0.CO;2-W.
    • (1997) Glia , vol.21 , pp. 92-98
    • Yudkoff, M.1
  • 122
    • 0023689032 scopus 로고
    • Nucleotide and deduced amino acid sequence of the E1-alpha subunit of human liver branched-chain alpha-ketoacid dehydrogenase
    • doi: 10.1016/0378-1119(88)90390-3
    • Zhang B, Crabb DW, Harris RA (1988) Nucleotide and deduced amino acid sequence of the E1-alpha subunit of human liver branched-chain alpha-ketoacid dehydrogenase. Gene 69: 159-164. doi: 10.1016/ 0378-1119(88)90390-3.
    • (1988) Gene , vol.69 , pp. 159-164
    • Zhang, B.1    Crabb, D.W.2    Harris, R.A.3
  • 123
    • 0025329551 scopus 로고
    • Premature translation termination of the pre-E1alpha subunit of the branched chain alpha-ketoacid dehydrogenase as a cause of maple syrup urine disease in polled Hereford calves
    • Zhang B, Healy PJ, Zhao Y, Crabb DW, Harris R (1990) Premature translation termination of the pre-E1alpha subunit of the branched chain alpha-ketoacid dehydrogenase as a cause of maple syrup urine disease in polled Hereford calves. J Biol Chem 265(5): 2425-2427.
    • (1990) J Biol Chem , vol.265 , Issue.5 , pp. 2425-2427
    • Zhang, B.1    Healy, P.J.2    Zhao, Y.3    Crabb, D.W.4    Harris, R.5
  • 124
    • 0029851903 scopus 로고    scopus 로고
    • Elevation of amino acids in the interstitial space of the rat brain following infusion of large neutral amino and keto acids by microdialysis: Alpha-ketoisocaproate infusion
    • doi: 10.1159/000111436
    • Zielke HR, Huang Y, Tildon JT, Zeilke CL, Baab PJ (1996) Elevation of amino acids in the interstitial space of the rat brain following infusion of large neutral amino and keto acids by microdialysis: alpha-ketoisocaproate infusion. Dev Neurosci 18: 420-425. doi: 10.1159/ 000111436.
    • (1996) Dev Neurosci , vol.18 , pp. 420-425
    • Zielke, H.R.1    Huang, Y.2    Tildon, J.T.3    Zeilke, C.L.4    Baab, P.J.5
  • 125
    • 64449086258 scopus 로고    scopus 로고
    • Dual mechanisms of brain injury and novel treatment in maple syrup urine disease
    • (in press)
    • Zinnanti WJ, Lazovic J, Griffin K, et al (2009) Dual mechanisms of brain injury and novel treatment in maple syrup urine disease. Brain (in press).
    • (2009) Brain
    • Zinnanti, W.J.1    Lazovic, J.2    Griffin, K.3


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