메뉴 건너뛰기




Volumn 100, Issue 4, 2010, Pages 324-332

Four novel mutations identified in Norwegian patients result in intermittent maple syrup urine disease when combined with the R301C mutation

Author keywords

Branched chain ketoacid dehydrogenase; E2; MUSD

Indexed keywords

2 OXOACID DEHYDROGENASE; ACYLTRANSFERASE; BRANCHED CHAIN AMINO ACID; MESSENGER RNA; DIHYDROLIPOAMIDE ACYLTRANSFERASE; PROTEIN SUBUNIT;

EID: 77954657516     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2010.04.017     Document Type: Article
Times cited : (11)

References (30)
  • 1
    • 31544455515 scopus 로고    scopus 로고
    • Lessons from genetic disorders of branched-chain amino acid metabolism
    • Chuang D.T., Chuang J.L., Wynn R.M. Lessons from genetic disorders of branched-chain amino acid metabolism. J. Nutr. 2006, 136:243S-249S.
    • (2006) J. Nutr. , vol.136
    • Chuang, D.T.1    Chuang, J.L.2    Wynn, R.M.3
  • 2
    • 0026564150 scopus 로고
    • On the mechanisms of the formation of l-alloisoleucine and the 2-hydroxy-3-methylvaleric acid stereoisomers from l-isoleucine in maple syrup urine disease patients and in normal humans
    • Mamer O.A., Reimer M.L. On the mechanisms of the formation of l-alloisoleucine and the 2-hydroxy-3-methylvaleric acid stereoisomers from l-isoleucine in maple syrup urine disease patients and in normal humans. J. Biol. Chem. 1992, 267:22141-22147.
    • (1992) J. Biol. Chem. , vol.267 , pp. 22141-22147
    • Mamer, O.A.1    Reimer, M.L.2
  • 3
    • 0032857049 scopus 로고    scopus 로고
    • Significance of l-alloisoleucine in plasma for diagnosis of maple syrup urine disease
    • Schadewaldt P., Bodner-Leidecker A., Hammen H.W., Wendel U. Significance of l-alloisoleucine in plasma for diagnosis of maple syrup urine disease. Clin. Chem. 1999, 45:1734-1740.
    • (1999) Clin. Chem. , vol.45 , pp. 1734-1740
    • Schadewaldt, P.1    Bodner-Leidecker, A.2    Hammen, H.W.3    Wendel, U.4
  • 5
    • 0035936814 scopus 로고    scopus 로고
    • Regulation of the activity of branched-chain 2-oxo acid dehydrogenase (BCODH) complex by binding BCODH kinase
    • Obayashi M., Sato Y., Harris R.A., Shimomura Y. Regulation of the activity of branched-chain 2-oxo acid dehydrogenase (BCODH) complex by binding BCODH kinase. FEBS Lett. 2001, 491:50-54.
    • (2001) FEBS Lett. , vol.491 , pp. 50-54
    • Obayashi, M.1    Sato, Y.2    Harris, R.A.3    Shimomura, Y.4
  • 8
    • 0035744467 scopus 로고    scopus 로고
    • Regulation of branched-chain amino acid catabolism: nutritional and hormonal regulation of activity and expression of the branched-chain alpha-keto acid dehydrogenase kinase
    • Shimomura Y., Obayashi M., Murakami T., Harris R.A. Regulation of branched-chain amino acid catabolism: nutritional and hormonal regulation of activity and expression of the branched-chain alpha-keto acid dehydrogenase kinase. Curr. Opin. Clin. Nutr. Metab. Care 2001, 4:419-423.
    • (2001) Curr. Opin. Clin. Nutr. Metab. Care , vol.4 , pp. 419-423
    • Shimomura, Y.1    Obayashi, M.2    Murakami, T.3    Harris, R.A.4
  • 9
    • 0037013207 scopus 로고    scopus 로고
    • Solution structure and dynamics of the lipoic acid-bearing domain of human mitochondrial branched-chain alpha-keto acid dehydrogenase complex
    • Chang C.F., Chou H.T., Chuang J.L., Chuang D.T., Huang T.H. Solution structure and dynamics of the lipoic acid-bearing domain of human mitochondrial branched-chain alpha-keto acid dehydrogenase complex. J. Biol. Chem. 2002, 277:15865-15873.
    • (2002) J. Biol. Chem. , vol.277 , pp. 15865-15873
    • Chang, C.F.1    Chou, H.T.2    Chuang, J.L.3    Chuang, D.T.4    Huang, T.H.5
  • 10
    • 33748769253 scopus 로고    scopus 로고
    • Structure of the subunit binding domain and dynamics of the di-domain region from the core of human branched chain alpha-ketoacid dehydrogenase complex
    • Chang C.F., Chou H.T., Lin Y.J., Lee S.J., Chuang J.L., Chuang D.T., Huang T.H. Structure of the subunit binding domain and dynamics of the di-domain region from the core of human branched chain alpha-ketoacid dehydrogenase complex. J. Biol. Chem. 2006, 281:28345-28353.
    • (2006) J. Biol. Chem. , vol.281 , pp. 28345-28353
    • Chang, C.F.1    Chou, H.T.2    Lin, Y.J.3    Lee, S.J.4    Chuang, J.L.5    Chuang, D.T.6    Huang, T.H.7
  • 11
    • 33845703854 scopus 로고    scopus 로고
    • A synchronized substrate-gating mechanism revealed by cubic-core structure of the bovine branched-chain alpha-ketoacid dehydrogenase complex
    • Kato M., Wynn R.M., Chuang J.L., Brautigam C.A., Custorio M., Chuang D.T. A synchronized substrate-gating mechanism revealed by cubic-core structure of the bovine branched-chain alpha-ketoacid dehydrogenase complex. EMBO J. 2006, 25:5983-5994.
    • (2006) EMBO J. , vol.25 , pp. 5983-5994
    • Kato, M.1    Wynn, R.M.2    Chuang, J.L.3    Brautigam, C.A.4    Custorio, M.5    Chuang, D.T.6
  • 12
    • 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' UTR in one of the two E1beta mRNAs arises from intronic sequences
    • Chuang J.L., Cox R.P., Chuang D.T. Maple syrup urine disease: the E1beta gene of human branched-chain alpha-ketoacid dehydrogenase complex has 11 rather than 10 exons, and the 3' UTR in one of the two E1beta mRNAs arises from intronic sequences. Am. J. Hum. Genet. 1996, 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
  • 13
    • 0023491180 scopus 로고
    • Comparison of the catabolism of branched-chain l-amino acids in cultured human skin fibroblasts
    • Schadewaldt P., Wendel U. Comparison of the catabolism of branched-chain l-amino acids in cultured human skin fibroblasts. Pediatr. Res. 1987, 22:591-594.
    • (1987) Pediatr. Res. , vol.22 , pp. 591-594
    • Schadewaldt, P.1    Wendel, U.2
  • 16
    • 77954661167 scopus 로고    scopus 로고
    • Valle, Beaudet, Vogelstein, Kinzler, Antonarakis, Ballabio, The Online Metabolic and Molecular Bases of Inherited Diseases,, McGraw Hill, Available from:
    • D.T. Chuang, R.M. Wynn, V. Shih, Maple syrup urine disease (branched-chain ketoaciduria). Valle, Beaudet, Vogelstein, Kinzler, Antonarakis, Ballabio, The Online Metabolic and Molecular Bases of Inherited Diseases, vol. 87, McGraw Hill 2008. Available from: http://www.ommbid.com.
    • (2008) Maple syrup urine disease (branched-chain ketoaciduria , vol.87
    • Chuang, D.T.1    Wynn, R.M.2    Shih, V.3
  • 17
    • 0036713692 scopus 로고    scopus 로고
    • Lon protease preferentially degrades oxidized mitochondrial aconitase by an ATP-stimulated mechanism
    • Bota D.A., Davies K.J. Lon protease preferentially degrades oxidized mitochondrial aconitase by an ATP-stimulated mechanism. Nat. Cell Biol. 2002, 4:674-680.
    • (2002) Nat. Cell Biol. , vol.4 , pp. 674-680
    • Bota, D.A.1    Davies, K.J.2
  • 18
    • 70350064588 scopus 로고    scopus 로고
    • Protein quality control in mitochondria
    • Tatsuta T. Protein quality control in mitochondria. J. Biochem. 2009, 146:455-461.
    • (2009) J. Biochem. , vol.146 , pp. 455-461
    • Tatsuta, T.1
  • 19
    • 0025877115 scopus 로고
    • Both induction and activation of the branched-chain 2-oxo acid dehydrogenase complex in primary-cultured rat hepatocytes by clofibrate
    • Honda K., Ono K., Mori T., Kochi H. Both induction and activation of the branched-chain 2-oxo acid dehydrogenase complex in primary-cultured rat hepatocytes by clofibrate. J. Biochem. 1991, 109:822-827.
    • (1991) J. Biochem. , vol.109 , pp. 822-827
    • Honda, K.1    Ono, K.2    Mori, T.3    Kochi, H.4
  • 20
    • 0038476614 scopus 로고    scopus 로고
    • Transcriptional regulation of the lactase-phlorizin hydrolase gene by polymorphisms associated with adult-type hypolactasia
    • Kuokkanen M., Enattah N.S., Oksanen A., Savilahti E., Orpana A., Jarvela I. Transcriptional regulation of the lactase-phlorizin hydrolase gene by polymorphisms associated with adult-type hypolactasia. Gut 2003, 52:647-652.
    • (2003) Gut , vol.52 , pp. 647-652
    • Kuokkanen, M.1    Enattah, N.S.2    Oksanen, A.3    Savilahti, E.4    Orpana, A.5    Jarvela, I.6
  • 21
    • 58049125559 scopus 로고    scopus 로고
    • Lactose digestion and the evolutionary genetics of lactase persistence
    • Ingram C.J., Mulcare C.A., Itan Y., Thomas M.G., Swallow D.M. Lactose digestion and the evolutionary genetics of lactase persistence. Hum. Genet. 2009, 124:579-591.
    • (2009) Hum. Genet. , vol.124 , pp. 579-591
    • Ingram, C.J.1    Mulcare, C.A.2    Itan, Y.3    Thomas, M.G.4    Swallow, D.M.5
  • 22
    • 38549141630 scopus 로고    scopus 로고
    • PiRNABank: a web resource on classified and clustered Piwi-interacting RNAs
    • Sai L.S., Agrawal S. piRNABank: a web resource on classified and clustered Piwi-interacting RNAs. Nucleic Acids Res. 2008, 36:D173-D177.
    • (2008) Nucleic Acids Res. , vol.36
    • Sai, L.S.1    Agrawal, S.2
  • 23
    • 27944480498 scopus 로고    scopus 로고
    • Human microRNA (miR29b) expression controls the amount of branched chain alpha-ketoacid dehydrogenase complex in a cell
    • Mersey B.D., Jin P., Danner D.J. Human microRNA (miR29b) expression controls the amount of branched chain alpha-ketoacid dehydrogenase complex in a cell. Hum. Mol. Genet. 2005, 14:3371-3377.
    • (2005) Hum. Mol. Genet. , vol.14 , pp. 3371-3377
    • Mersey, B.D.1    Jin, P.2    Danner, D.J.3
  • 26
    • 0001615388 scopus 로고
    • Late manifesting variant of branched-chain ketoaciduria (maple syrup urine disease)
    • Kiil R., Rokkones T. Late manifesting variant of branched-chain ketoaciduria (maple syrup urine disease). Acta Paediatr. 1964, 53:356-364.
    • (1964) Acta Paediatr. , vol.53 , pp. 356-364
    • Kiil, R.1    Rokkones, T.2
  • 27
    • 0001129327 scopus 로고    scopus 로고
    • Human mutations affecting branched chain alpha-ketoacid dehydrogenase
    • Danner D.J., Doering C.B. Human mutations affecting branched chain alpha-ketoacid dehydrogenase. Front. Biosci. 1998, 3:d517-d524.
    • (1998) Front. Biosci. , vol.3
    • Danner, D.J.1    Doering, C.B.2
  • 28
    • 0034827027 scopus 로고    scopus 로고
    • Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population
    • Edelmann L., Wasserstein M.P., Kornreich R., Sansaricq C., Snyderman S.E., Diaz G.A. Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population. Am. J. Hum. Genet. 2001, 69:863-868.
    • (2001) Am. J. Hum. Genet. , vol.69 , pp. 863-868
    • Edelmann, L.1    Wasserstein, M.P.2    Kornreich, R.3    Sansaricq, C.4    Snyderman, S.E.5    Diaz, G.A.6
  • 29
    • 0035965194 scopus 로고    scopus 로고
    • Biochemical basis of type IB (E1beta) mutations in maple syrup urine disease. A prevalent allele in patients from the Druze kindred in Israel
    • Wynn R.M., Chuang J.L., Sansaricq C., Mandel H., Chuang D.T. Biochemical basis of type IB (E1beta) mutations in maple syrup urine disease. A prevalent allele in patients from the Druze kindred in Israel. J. Biol. Chem. 2001, 276:36550-36556.
    • (2001) J. Biol. Chem. , vol.276 , pp. 36550-36556
    • Wynn, R.M.1    Chuang, J.L.2    Sansaricq, C.3    Mandel, H.4    Chuang, D.T.5
  • 30
    • 0346656819 scopus 로고    scopus 로고
    • Maple syrup urine disease in the Austronesian aboriginal tribe Paiwan of Taiwan: a novel DBT (E2) gene 4.7kb founder deletion caused by a nonhomologous recombination between LINE-1 and Alu and the carrier-frequency determination
    • Chi C.S., Tsai C.R., Chen L.H., Lee H.F., Mak B.S., Yang S.H., Wang T.Y., Shu S.G., Chen C.H. Maple syrup urine disease in the Austronesian aboriginal tribe Paiwan of Taiwan: a novel DBT (E2) gene 4.7kb founder deletion caused by a nonhomologous recombination between LINE-1 and Alu and the carrier-frequency determination. Eur. J. Hum. Genet. 2003, 11:931-936.
    • (2003) Eur. J. Hum. Genet. , vol.11 , pp. 931-936
    • Chi, C.S.1    Tsai, C.R.2    Chen, L.H.3    Lee, H.F.4    Mak, B.S.5    Yang, S.H.6    Wang, T.Y.7    Shu, S.G.8    Chen, C.H.9


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.