메뉴 건너뛰기




Volumn 31, Issue 5, 2008, Pages 643-657

Mitochondrial fatty acid oxidation defects - Remaining challenges

Author keywords

[No Author keywords available]

Indexed keywords

BUTYRYL COENZYME A DEHYDROGENASE; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE; MESSENGER RNA; RIBOFLAVIN SYNTHASE; UBIDECARENONE;

EID: 56049114390     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-008-0990-y     Document Type: Article
Times cited : (132)

References (80)
  • 1
    • 0023248335 scopus 로고
    • Short-chain acyl-coenzyme A dehydrogenase deficiency: Clinical and biochemical studies in two patients
    • Amendt BA, Greene C, Sweetman L, et al (1987) Short-chain acyl-coenzyme A dehydrogenase deficiency: Clinical and biochemical studies in two patients. J Clin Invest 79: 1303-1309.
    • (1987) J Clin Invest , vol.79 , pp. 1303-1309
    • Amendt, B.A.1    Greene, C.2    Sweetman, L.3
  • 2
    • 8244255920 scopus 로고    scopus 로고
    • The molecular basis of medium-chain acyl-CoA degydrogenase (MCAD) deficiency in compound heterozygous patients: Is there correlation between genotype and phenotype?
    • Andresen BS, Bross P, Udvari S, et al (1997) The molecular basis of medium-chain acyl-CoA degydrogenase (MCAD) deficiency in compound heterozygous patients: Is there correlation between genotype and phenotype? Hum Mol Genet 6: 695-707.
    • (1997) Hum Mol Genet , vol.6 , pp. 695-707
    • Andresen, B.S.1    Bross, P.2    Udvari, S.3
  • 3
    • 0033069578 scopus 로고    scopus 로고
    • Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency
    • Andresen BS, Olpin S, Poorthuis BJ, et al (1999) Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. Am J Hum Genet 64: 479-494.
    • (1999) Am J Hum Genet , vol.64 , pp. 479-494
    • Andresen, B.S.1    Olpin, S.2    Poorthuis, B.J.3
  • 4
    • 0034985656 scopus 로고    scopus 로고
    • Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/ MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: Identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency
    • Andresen BS, Dobrowolski SF, O'Reilly L, et al (2001) Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: Identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency. Am J Hum Genet 68: 1408-1418.
    • (2001) Am J Hum Genet , vol.68 , pp. 1408-1418
    • Andresen, B.S.1    Dobrowolski, S.F.2    O'Reilly, L.3
  • 5
    • 0022355682 scopus 로고
    • The diagnosis and biochemical investigation of a patient with a short chain fatty acid oxidation defect
    • Bennett MJ, Gray RG, Isherwood DM, Murphy N, Pollitt RJ (1985) The diagnosis and biochemical investigation of a patient with a short chain fatty acid oxidation defect. J Inherit Metab Dis 8 (Supplement 2): 135-136.
    • (1985) J Inherit Metab Dis , vol.8 , Issue.SUPPL. 2 , pp. 135-136
    • Bennett, M.J.1    Gray, R.G.2    Isherwood, D.M.3    Murphy, N.4    Pollitt, R.J.5
  • 6
    • 0027404491 scopus 로고
    • Very long chain acyl-CoA dehydrogenase deficiency: Identification of a new inborn error of mitochondrial fatty acid oxidation in fibroblasts
    • Bertrand C, Largilliere C, Zabot MT, Mathieu M, Vianey-Saban C (1993) Very long chain acyl-CoA dehydrogenase deficiency: Identification of a new inborn error of mitochondrial fatty acid oxidation in fibroblasts. Biochim Biophys Acta 1180: 327-329.
    • (1993) Biochim Biophys Acta , vol.1180 , pp. 327-329
    • Bertrand, C.1    Largilliere, C.2    Zabot, M.T.3    Mathieu, M.4    Vianey-Saban, C.5
  • 7
    • 0038227830 scopus 로고    scopus 로고
    • Hypoglycaemia and elevated urine ethylmalonic acid in a child homozygous for the short-chain acyl-CoA dehydrogenase 625G>A gene variation
    • Birkebaek NH, Simonsen H, Gregersen N (2002) Hypoglycaemia and elevated urine ethylmalonic acid in a child homozygous for the short-chain acyl-CoA dehydrogenase 625G>A gene variation. Acta Paediatr 91: 480-482.
    • (2002) Acta Paediatr , vol.91 , pp. 480-482
    • Birkebaek, N.H.1    Simonsen, H.2    Gregersen, N.3
  • 9
    • 0027369381 scopus 로고
    • Co-overexpression of bacterial GroESL chaperonins partly overcomes non-productive folding and tetramer assembly of E. coli -expressed human medium-chain acyl-CoA dehydrogenase (MCAD) carrying the prevalent disease-causing K304E mutation
    • Bross P, Andresen BS, Winter V, et al (1993) Co-overexpression of bacterial GroESL chaperonins partly overcomes non-productive folding and tetramer assembly of E. coli -expressed human medium-chain acyl-CoA dehydrogenase (MCAD) carrying the prevalent disease-causing K304E mutation. Biochim Biophys Acta 1182: 264-274.
    • (1993) Biochim Biophys Acta , vol.1182 , pp. 264-274
    • Bross, P.1    Andresen, B.S.2    Winter, V.3
  • 10
    • 0028902952 scopus 로고
    • Effects of two mutations detected in medium chain acyl-CoA dehydrogenase (MCAD)-deficient patients on folding, oligomer assembly, and stability of MCAD enzyme
    • Bross P, Jespersen C, Jensen TG, et al (1995) Effects of two mutations detected in medium chain acyl-CoA dehydrogenase (MCAD)-deficient patients on folding, oligomer assembly, and stability of MCAD enzyme. J Biol Chem 270: 10284-10290.
    • (1995) J Biol Chem , vol.270 , pp. 10284-10290
    • Bross, P.1    Jespersen, C.2    Jensen, T.G.3
  • 11
    • 34247197937 scopus 로고    scopus 로고
    • The nonsense-mediated decay RNA surveillance pathway
    • Chang YF, Imam JS, Wilkinson MF (2007) The nonsense-mediated decay RNA surveillance pathway. Annu Rev Biochem 76: 51-74.
    • (2007) Annu Rev Biochem , vol.76 , pp. 51-74
    • Chang, Y.F.1    Imam, J.S.2    Wilkinson, M.F.3
  • 12
    • 0021250369 scopus 로고
    • Glutaric aciduria type II: Evidence for a defect related to the electron transfer flavoprotein or its dehydrogenase
    • Christensen E, Kølvraa S, Gregersen N (1984) Glutaric aciduria type II: Evidence for a defect related to the electron transfer flavoprotein or its dehydrogenase. Pediatr Res 18: 663-667.
    • (1984) Pediatr Res , vol.18 , pp. 663-667
    • Christensen, E.1    Kølvraa, S.2    Gregersen, N.3
  • 13
    • 0034902277 scopus 로고    scopus 로고
    • Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion
    • Clayton PT, Eaton S, Aynsley-Green A, et al (2001) Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion. J Clin Invest 108: 457-465.
    • (2001) J Clin Invest , vol.108 , pp. 457-465
    • Clayton, P.T.1    Eaton, S.2    Aynsley-Green, A.3
  • 14
    • 0023875592 scopus 로고
    • Genetic deficiency of short-chain acyl-coenzyme A dehydrogenase in cultured fibroblasts from a patient with muscle carnitine deficiency and severe skeletal muscle weakness
    • Coates PM, Hale DE, Finocchiaro G, Tanaka K, Winter SC (1988) Genetic deficiency of short-chain acyl-coenzyme A dehydrogenase in cultured fibroblasts from a patient with muscle carnitine deficiency and severe skeletal muscle weakness. J Clin Invest 81: 171-175.
    • (1988) J Clin Invest , vol.81 , pp. 171-175
    • Coates, P.M.1    Hale, D.E.2    Finocchiaro, G.3    Tanaka, K.4    Winter, S.C.5
  • 15
    • 9344226779 scopus 로고    scopus 로고
    • Ethylmalonic aciduria is associated with an amino acid variant of short-chain acyl-coenzyme A dehydrogenase
    • Corydon MJ, Gregersen N, Lehnert W, et al (1996) Ethylmalonic aciduria is associated with an amino acid variant of short-chain acyl-coenzyme A dehydrogenase. Pediatr Res 39: 1059-1966.
    • (1996) Pediatr Res , vol.39 , pp. 1059-1966
    • Corydon, M.J.1    Gregersen, N.2    Lehnert, W.3
  • 16
    • 0032557512 scopus 로고    scopus 로고
    • Rapid degradation of short-chain acyl-CoA dehydrogenase (SCAD) variants with temperature-sensitive folding defects occur after import into mitochondria
    • Corydon TJ, Bross P, Jensen TG, et al (1998) Rapid degradation of short-chain acyl-CoA dehydrogenase (SCAD) variants with temperature-sensitive folding defects occur after import into mitochondria. J Biol Chem 273: 13065-13071.
    • (1998) J Biol Chem , vol.273 , pp. 13065-13071
    • Corydon, T.J.1    Bross, P.2    Jensen, T.G.3
  • 17
    • 0035193285 scopus 로고    scopus 로고
    • Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency
    • Corydon MJ, Vockley J, Rinaldo P, et al (2001) Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency. Pediatr Res 49: 18-23.
    • (2001) Pediatr Res , vol.49 , pp. 18-23
    • Corydon, M.J.1    Vockley, J.2    Rinaldo, P.3
  • 18
    • 23044498270 scopus 로고    scopus 로고
    • Down-regulation of Hsp60 expression by RNAi impairs folding of medium-chain acyl-CoA dehydrogenase wild-type and disease-associated proteins
    • Corydon TJ, Hansen J, Bross P, Jensen TG (2005) Down-regulation of Hsp60 expression by RNAi impairs folding of medium-chain acyl-CoA dehydrogenase wild-type and disease-associated proteins. Mol Genet Metab 85: 260-270.
    • (2005) Mol Genet Metab , vol.85 , pp. 260-270
    • Corydon, T.J.1    Hansen, J.2    Bross, P.3    Jensen, T.G.4
  • 19
    • 0015800677 scopus 로고
    • Muscle carnitine palmityltransferase deficiency and myoglobinuria
    • DiMauro S, DiMauro PM (1973) Muscle carnitine palmityltransferase deficiency and myoglobinuria. Science 182: 929-931.
    • (1973) Science , vol.182 , pp. 929-931
    • DiMauro, S.1    DiMauro, P.M.2
  • 20
    • 0038275335 scopus 로고
    • Deficiency of electron transfer flavoprotein or electron transfer flavoprotein:Ubiquinone oxidoreductase in glutaric acidemia type II fibroblasts
    • Frerman FE, Goodman SI (1985) Deficiency of electron transfer flavoprotein or electron transfer flavoprotein:ubiquinone oxidoreductase in glutaric acidemia type II fibroblasts. Proc Natl Acad Sci U S A 82: 4517-4520.
    • (1985) Proc Natl Acad Sci U S A , vol.82 , pp. 4517-4520
    • Frerman, F.E.1    Goodman, S.I.2
  • 21
    • 34248171499 scopus 로고    scopus 로고
    • 10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene
    • 10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene. Brain 130: 2037-2044.
    • (2007) Brain , vol.130 , pp. 2037-2044
    • Gempel, K.1    Topaloglu, H.2    Talim, B.3
  • 22
    • 0036389795 scopus 로고    scopus 로고
    • Quantitative fibroblast acylcarnitine profiles in mitochondrial fatty acid beta-oxidation defects: Phenotype/metabolite correlations
    • Giak SK, Carpenter K, Hammond J, Christodoulou J, Wilcken B (2002) Quantitative fibroblast acylcarnitine profiles in mitochondrial fatty acid beta-oxidation defects: Phenotype/metabolite correlations. Mol Genet Metab 76: 327-334.
    • (2002) Mol Genet Metab , vol.76 , pp. 327-334
    • Giak, S.K.1    Carpenter, K.2    Hammond, J.3    Christodoulou, J.4    Wilcken, B.5
  • 23
    • 33645471734 scopus 로고    scopus 로고
    • Coordinated and reversible reduction of enzymes involved in terminal oxidative metabolism in skeletal muscle mitochondria from a riboflavin-responsive, multiple acyl-CoA dehydrogenase deficiency patient
    • Gianazza E, Vergani L, Wait R, et al (2006) Coordinated and reversible reduction of enzymes involved in terminal oxidative metabolism in skeletal muscle mitochondria from a riboflavin-responsive, multiple acyl-CoA dehydrogenase deficiency patient. Electrophoresis 27: 1182-1198.
    • (2006) Electrophoresis , vol.27 , pp. 1182-1198
    • Gianazza, E.1    Vergani, L.2    Wait, R.3
  • 24
    • 0021868819 scopus 로고
    • Riboflavin-responsive defects of beta-oxidation
    • Gregersen N (1985) Riboflavin-responsive defects of beta-oxidation. J Inher Metab Dis 8 (Supplement 1): 65-69.
    • (1985) J Inher Metab Dis , vol.8 , Issue.SUPPL. 1 , pp. 65-69
    • Gregersen, N.1
  • 25
    • 33745109363 scopus 로고    scopus 로고
    • Protein misfolding disorders: Pathogenesis and intervention
    • Gregersen N (2006) Protein misfolding disorders: Pathogenesis and intervention. J Inherit Metab Dis 29: 456-470.
    • (2006) J Inherit Metab Dis , vol.29 , pp. 456-470
    • Gregersen, N.1
  • 26
    • 0017066379 scopus 로고
    • Suberylglycine excretion in the urine from a patient with dicarboxylic aciduria
    • Gregersen N, Lauritzen R, Rasmussen K (1976) Suberylglycine excretion in the urine from a patient with dicarboxylic aciduria. Clin Chim Acta 70: 417-425.
    • (1976) Clin Chim Acta , vol.70 , pp. 417-425
    • Gregersen, N.1    Lauritzen, R.2    Rasmussen, K.3
  • 28
    • 6844258223 scopus 로고    scopus 로고
    • Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: One of the variant alleles, 511C→T, is present at an unexpectedly high frequency in the general population, as was the case for 625G→A, together conferring susceptibility to ethylmalonic aciduria
    • Gregersen N, Winter VS, Corydon MJ, et al (1998) Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: One of the variant alleles, 511C→T, is present at an unexpectedly high frequency in the general population, as was the case for 625G→A, together conferring susceptibility to ethylmalonic aciduria. Hum Mol Genet 7: 619-627.
    • (1998) Hum Mol Genet , vol.7 , pp. 619-627
    • Gregersen, N.1    Winter, V.S.2    Corydon, M.J.3
  • 29
    • 0842330592 scopus 로고    scopus 로고
    • Genetic defects in fatty acid beta-oxidation and acyl-CoA dehydrogenases
    • Gregersen N, Bross P, Andresen BS (2004) Genetic defects in fatty acid beta-oxidation and acyl-CoA dehydrogenases. Eur J Biochem 271: 470-482.
    • (2004) Eur J Biochem , vol.271 , pp. 470-482
    • Gregersen, N.1    Bross, P.2    Andresen, B.S.3
  • 30
    • 33745099303 scopus 로고    scopus 로고
    • Chapter 13.1: Protein folding and misfolding: The role of cellular protein quality control systems in inherited disorders
    • In: Scriver CR, Beaudet AL, Valle D, Sly WS, Vogelstein B, Childs B, Kinzler KW (eds) New York: McGraw-Hill
    • Gregersen N, Bross P, Jørgensen MM (2005) Chapter 13.1: Protein folding and misfolding: The role of cellular protein quality control systems in inherited disorders. In: Scriver CR, Beaudet AL, Valle D, Sly WS, Vogelstein B, Childs B, Kinzler KW (eds) MMBID-Online (http://genetics.accessmedicine.com). New York: McGraw-Hill.
    • (2005) MMBID-Online
    • Gregersen, N.1    Bross, P.2    Jørgensen, M.M.3
  • 33
    • 34347257475 scopus 로고    scopus 로고
    • A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency
    • He M, Rutledge SL, Kelly DR, et al (2007) A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency. Am J Hum Genet 81: 87-103.
    • (2007) Am J Hum Genet , vol.81 , pp. 87-103
    • He, M.1    Rutledge, S.L.2    Kelly, D.R.3
  • 35
    • 0021255778 scopus 로고
    • Deficiency of medium chain fatty acylcoenzyme A dehydrogenase presenting as the sudden infant death syndrome
    • Howat AJ, Bennett MJ, Variend S, Shaw L (1984) Deficiency of medium chain fatty acylcoenzyme A dehydrogenase presenting as the sudden infant death syndrome. Br Med J (Clin Res Ed) 288: 976.
    • (1984) Br Med J (Clin Res Ed) , vol.288 , pp. 976
    • Howat, A.J.1    Bennett, M.J.2    Variend, S.3    Shaw, L.4
  • 36
    • 0028265830 scopus 로고
    • Medium-chain acyl-coenzyme A dehydrogenase deficiency - Clinical course in 120 affected children
    • Iafolla AK, Thompson RJ, Roe CR (1994) Medium-chain acyl-coenzyme A dehydrogenase deficiency - Clinical course in 120 affected children. J Pediatr 124: 409-415.
    • (1994) J Pediatr , vol.124 , pp. 409-415
    • Iafolla, A.K.1    Thompson, R.J.2    Roe, C.R.3
  • 37
    • 0028597508 scopus 로고
    • Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Identification of the major disease-causing mutation in the alpha-subunit of the mitochondrial trifunctional protein
    • Ijlst L, Wanders RJA, Ushikubo S, Kamijo T, Hashimoto T (1994) Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the alpha-subunit of the mitochondrial trifunctional protein. Bba-Lipid Lipid Metab 1215: 347-350.
    • (1994) Bba-Lipid Lipid Metab , vol.1215 , pp. 347-350
    • Ijlst, L.1    Wanders, R.J.A.2    Ushikubo, S.3    Kamijo, T.4    Hashimoto, T.5
  • 38
    • 0026488067 scopus 로고
    • Combined enzyme defect of mitochondrial fatty acid oxidation
    • Jackson S, Kler RS, Bartlett K, et al (1992) Combined enzyme defect of mitochondrial fatty acid oxidation. J Clin Invest 90: 1219-1225.
    • (1992) J Clin Invest , vol.90 , pp. 1219-1225
    • Jackson, S.1    Kler, R.S.2    Bartlett, K.3
  • 39
    • 0030779165 scopus 로고    scopus 로고
    • Medium chain 3-ketoacyl-coenzyme A thiolase deficiency: A new disorder of mitochondrial fatty acid beta-oxidation
    • Kamijo T, Indo Y, Souri M, et al (1997) Medium chain 3-ketoacyl-coenzyme A thiolase deficiency: A new disorder of mitochondrial fatty acid beta-oxidation. Pediatr Res 42: 569-576.
    • (1997) Pediatr Res , vol.42 , pp. 569-576
    • Kamijo, T.1    Indo, Y.2    Souri, M.3
  • 40
    • 0016441684 scopus 로고
    • The syndrome of systemic carnitine deficiency. Clinical, morphologic, biochemical, and pathophysiologic features
    • Karpati G, Carpenter S, Engel AG, et al (1975) The syndrome of systemic carnitine deficiency. Clinical, morphologic, biochemical, and pathophysiologic features. Neurology 25: 16-24.
    • (1975) Neurology , vol.25 , pp. 16-24
    • Karpati, G.1    Carpenter, S.2    Engel, A.G.3
  • 41
    • 8244246432 scopus 로고    scopus 로고
    • Biochemical characterization of purified, human recombinant Lys304→Glu medium-chain acyl-CoA dehydrogenase containing the common disease- causing mutation and comparison with the normal enzyme
    • Kieweg V, Krautle FG, Nandy A, et al (1997) Biochemical characterization of purified, human recombinant Lys304→Glu medium-chain acyl-CoA dehydrogenase containing the common disease- causing mutation and comparison with the normal enzyme. Eur J Biochem 246: 548-556.
    • (1997) Eur J Biochem , vol.246 , pp. 548-556
    • Kieweg, V.1    Krautle, F.G.2    Nandy, A.3
  • 42
    • 10744220582 scopus 로고    scopus 로고
    • Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening
    • Koeberl DD, Young SP, Gregersen N, et al (2003) Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening. Pediatr Res 54: 219-223.
    • (2003) Pediatr. Res , vol.54 , pp. 219-223
    • Koeberl, D.D.1    Young, S.P.2    Gregersen, N.3
  • 44
    • 34248587045 scopus 로고    scopus 로고
    • Handling of human short-chain acyl-CoA dehydrogenase (SCAD) variant proteins in transgenic mice
    • Kragh PM, Pedersen CB, Schmidt SP, et al (2007) Handling of human short-chain acyl-CoA dehydrogenase (SCAD) variant proteins in transgenic mice. Mol Genet Metab 91: 128-137.
    • (2007) Mol Genet Metab , vol.91 , pp. 128-137
    • Kragh, P.M.1    Pedersen, C.B.2    Schmidt, S.P.3
  • 45
    • 8844274811 scopus 로고    scopus 로고
    • Short-chain acyl-CoA dehydrogenase deficiency associated with early onset severe axonal neuropathy
    • Kurian MA, Hartley L, Zolkipli Z, et al (2004) Short-chain acyl-CoA dehydrogenase deficiency associated with early onset severe axonal neuropathy. Neuropediatrics 35: 312-316.
    • (2004) Neuropediatrics , vol.35 , pp. 312-316
    • Kurian, M.A.1    Hartley, L.2    Zolkipli, Z.3
  • 46
    • 21044445898 scopus 로고    scopus 로고
    • Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency
    • Maier EM, Liebl B, Roschinger W, et al (2005) Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency. Hum Mutat 25: 443-452.
    • (2005) Hum Mutat , vol.25 , pp. 443-452
    • Maier, E.M.1    Liebl, B.2    Roschinger, W.3
  • 47
    • 0037305374 scopus 로고    scopus 로고
    • Effect of riboflavin status on the homocysteine-lowering effect of folate in relation to the MTHFR (C677T) genotype
    • Moat SJ, Ashfield-Watt PA, Powers HJ, Newcombe RG, McDowell IF (2003) Effect of riboflavin status on the homocysteine-lowering effect of folate in relation to the MTHFR (C677T) genotype. Clin Chem 49: 295-302.
    • (2003) Clin Chem , vol.49 , pp. 295-302
    • Moat, S.J.1    Ashfield-Watt, P.A.2    Powers, H.J.3    Newcombe, R.G.4    McDowell, I.F.5
  • 48
    • 0037389601 scopus 로고    scopus 로고
    • The frequency of short-chain acyl-CoA dehydrogenase gene variants in the US population and correlation with the C(4)-acylcarnitine concentration in newborn blood spots
    • Nagan N, Kruckeberg KE, Tauscher AL, Snow BK, Rinaldo P, Matern D (2003) The frequency of short-chain acyl-CoA dehydrogenase gene variants in the US population and correlation with the C(4)-acylcarnitine concentration in newborn blood spots. Mol Genet Metab 78: 239-246.
    • (2003) Mol Genet Metab , vol.78 , pp. 239-246
    • Nagan, N.1    Kruckeberg, K.E.2    Tauscher, A.L.3    Snow, B.K.4    Rinaldo, P.5    Matern, D.6
  • 49
    • 0026783268 scopus 로고
    • FAD-dependent regulation of transcription, translation, post-translational processing, and post-processing stability of various mitochondrial acyl-CoA dehydrogenases and of electron transfer flavoprotein and the site of holoenzyme formation
    • Nagao M, Tanaka K (1992) FAD-dependent regulation of transcription, translation, post-translational processing, and post-processing stability of various mitochondrial acyl-CoA dehydrogenases and of electron transfer flavoprotein and the site of holoenzyme formation. J Biol Chem 267: 17925-17932.
    • (1992) J Biol Chem , vol.267 , pp. 17925-17932
    • Nagao, M.1    Tanaka, K.2
  • 50
    • 0025325156 scopus 로고
    • Identification of two variant short chain acyl-coenzyme A dehydrogenase alleles, each containing a different point mutation in a patient with short chain acyl-coenzyme A dehydrogenase deficiency
    • Naito E, Indo Y, Tanaka K (1990) Identification of two variant short chain acyl-coenzyme A dehydrogenase alleles, each containing a different point mutation in a patient with short chain acyl-coenzyme A dehydrogenase deficiency. J Clin Invest 85: 1575-1582.
    • (1990) J Clin Invest , vol.85 , pp. 1575-1582
    • Naito, E.1    Indo, Y.2    Tanaka, K.3
  • 51
    • 33847241832 scopus 로고    scopus 로고
    • Seemingly neutral polymorphic variants may confer immunity to splicing-inactivating mutations: A synonymous SNP in exon 5 of MCAD protects from deleterious mutations in a flanking exonic splicing enhancer
    • Nielsen KB, Sorensen S, Cartegni L, et al (2007) Seemingly neutral polymorphic variants may confer immunity to splicing-inactivating mutations: A synonymous SNP in exon 5 of MCAD protects from deleterious mutations in a flanking exonic splicing enhancer. Am J Hum Genet 80: 416-432.
    • (2007) Am J Hum Genet , vol.80 , pp. 416-432
    • Nielsen, K.B.1    Sorensen, S.2    Cartegni, L.3
  • 52
    • 3743108265 scopus 로고    scopus 로고
    • A defect in the transport of long-chain fatty acids associated with acute liver failure
    • Odaib AA, Shneider BL, Bennett MJ, et al (1998) A defect in the transport of long-chain fatty acids associated with acute liver failure. N Engl J Med 339: 1752-1757.
    • (1998) N Engl J Med , vol.339 , pp. 1752-1757
    • Odaib, A.A.1    Shneider, B.L.2    Bennett, M.J.3
  • 53
    • 0037057759 scopus 로고    scopus 로고
    • A method for quantitative acylcarnitine profiling in human skin fibroblasts using unlabelled palmitic acid: Diagnosis of fatty acid oxidation disorders and differentiation between biochemical phenotypes of MCAD deficiency
    • Okun JG, Kolker S, Schulze A, et al (2002) A method for quantitative acylcarnitine profiling in human skin fibroblasts using unlabelled palmitic acid: Diagnosis of fatty acid oxidation disorders and differentiation between biochemical phenotypes of MCAD deficiency. Biochim Biophys Acta 1584: 91-98.
    • (2002) Biochim Biophys Acta , vol.1584 , pp. 91-98
    • Okun, J.G.1    Kolker, S.2    Schulze, A.3
  • 54
    • 0038046685 scopus 로고    scopus 로고
    • Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency
    • Olsen RK, Andresen BS, Christensen E, Bross P, Skovby F, Gregersen N (2003) Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency. Hum Mutat 22: 12-23.
    • (2003) Hum Mutat , vol.22 , pp. 12-23
    • Olsen, R.K.1    Andresen, B.S.2    Christensen, E.3    Bross, P.4    Skovby, F.5    Gregersen, N.6
  • 55
    • 34547809952 scopus 로고    scopus 로고
    • ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency
    • Olsen RK, Olpin SE, Andresen BS, et al (2007) ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. Brain 130: 2045-2054.
    • (2007) Brain , vol.130 , pp. 2045-2054
    • Olsen, R.K.1    Olpin, S.E.2    Andresen, B.S.3
  • 56
    • 7044251901 scopus 로고    scopus 로고
    • The Y42H mutation in medium-chain acyl-CoA dehydrogenase, which is prevalent in babies identified by MS/MS-based newborn screening, is temperature sensitive
    • O'Reilly L, Bross P, Corydon TJ, et al (2004) The Y42H mutation in medium-chain acyl-CoA dehydrogenase, which is prevalent in babies identified by MS/MS-based newborn screening, is temperature sensitive. Eur J Biochem 271: 4053-4063.
    • (2004) Eur J Biochem , vol.271 , pp. 4053-4063
    • O'Reilly, L.1    Bross, P.2    Corydon, T.J.3
  • 57
    • 0347481388 scopus 로고    scopus 로고
    • Misfolding, degradation, and aggregation of variant proteins. The molecular pathogenesis of short chain acyl-CoA dehydrogenase (SCAD) deficiency
    • Pedersen CB, Bross P, Winter VS, et al (2003) Misfolding, degradation, and aggregation of variant proteins. The molecular pathogenesis of short chain acyl-CoA dehydrogenase (SCAD) deficiency. J Biol Chem 278: 47449-47458.
    • (2003) J Biol Chem , vol.278 , pp. 47449-47458
    • Pedersen, C.B.1    Bross, P.2    Winter, V.S.3
  • 58
    • 46949109490 scopus 로고    scopus 로고
    • The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level
    • Pedersen CB, Kolvraa S, Kolvraa A, et al (2008) The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level. Hum Genet 124: 43-56.
    • (2008) Hum Genet , vol.124 , pp. 43-56
    • Pedersen, C.B.1    Kolvraa, S.2    Kolvraa, A.3
  • 59
    • 0015323363 scopus 로고
    • The occurrence of adipic and suberic acid in urine from ketotic patients
    • Pettersen JE, Jellum E, Eldjarn L (1972) The occurrence of adipic and suberic acid in urine from ketotic patients. Clin Chim Acta 38: 17-24.
    • (1972) Clin Chim Acta , vol.38 , pp. 17-24
    • Pettersen, J.E.1    Jellum, E.2    Eldjarn, L.3
  • 60
    • 0016898095 scopus 로고
    • Glutaric aciduria type II: Report on a previously undescribed metabolic disorder
    • Przyrembel H, Wendel U, Becker K, et al (1976) Glutaric aciduria type II: Report on a previously undescribed metabolic disorder. Clin Chim Acta 66: 227-239.
    • (1976) Clin Chim Acta , vol.66 , pp. 227-239
    • Przyrembel, H.1    Wendel, U.2    Becker, K.3
  • 61
    • 33745098087 scopus 로고    scopus 로고
    • Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: A global perspective
    • Rhead WJ (2006) Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: A global perspective. J Inherit Metab Dis 29: 370-377.
    • (2006) J Inherit Metab Dis , vol.29 , pp. 370-377
    • Rhead, W.J.1
  • 62
    • 0020570022 scopus 로고
    • Dicarboxylic aciduria: Deficient [1- 14 C]octanoate oxidation and medium-chain acyl-CoA dehydrogenase in fibroblasts
    • Rhead WJ, Amendt BA, Fritchman KS, Felts SJ (1983) Dicarboxylic aciduria: Deficient [1- 14 C]octanoate oxidation and medium-chain acyl-CoA dehydrogenase in fibroblasts. Science 221: 73-75.
    • (1983) Science , vol.221 , pp. 73-75
    • Rhead, W.J.1    Amendt, B.A.2    Fritchman, K.S.3    Felts, S.J.4
  • 63
    • 0027400923 scopus 로고
    • Multiple acyl-coenzyme A dehydrogenation disorder responsive to riboflavin: Substrate oxidation, flavin metabolism, and flavoenzyme activities in fibroblasts
    • Rhead W, Roettger V, Marshall T, Amendt B (1993) Multiple acyl-coenzyme A dehydrogenation disorder responsive to riboflavin: Substrate oxidation, flavin metabolism, and flavoenzyme activities in fibroblasts. Pediatr Res 33: 129-135.
    • (1993) Pediatr Res , vol.33 , pp. 129-135
    • Rhead, W.1    Roettger, V.2    Marshall, T.3    Amendt, B.4
  • 64
    • 0028919340 scopus 로고
    • Isoalloxazine ring of FAD is required for the formation of the core in the Hsp60-assisted folding of medium chain acyl-CoA dehydrogenase subunit into the assembly competent conformation in mitochondria
    • Saijo T, Tanaka K (1995) Isoalloxazine ring of FAD is required for the formation of the core in the Hsp60-assisted folding of medium chain acyl-CoA dehydrogenase subunit into the assembly competent conformation in mitochondria. J Biol Chem 270: 1899-1907.
    • (1995) J Biol Chem , vol.270 , pp. 1899-1907
    • Saijo, T.1    Tanaka, K.2
  • 65
    • 0027981243 scopus 로고
    • Intramitochondrial folding and assembly of medium-chain acyl-CoA dehydrogenase (MCAD) - Demonstration of impaired transfer of K304E-variant MCAD from its complex with Hsp60 to the native tetramer
    • Saijo T, Welch WJ, Tanaka K (1994) Intramitochondrial folding and assembly of medium-chain acyl-CoA dehydrogenase (MCAD) - demonstration of impaired transfer of K304E-variant MCAD from its complex with Hsp60 to the native tetramer. J Biol Chem 269: 4401-4408.
    • (1994) J Biol Chem , vol.269 , pp. 4401-4408
    • Saijo, T.1    Welch, W.J.2    Tanaka, K.3
  • 67
    • 0026703357 scopus 로고
    • Brief report: A deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane
    • Stanley CA, Hale DE, Berry GT, Deleeuw S, Boxer J, Bonnefont JP (1992) Brief report: A deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane. N Engl J Med 327: 19-23.
    • (1992) N Engl J Med , vol.327 , pp. 19-23
    • Stanley, C.A.1    Hale, D.E.2    Berry, G.T.3    Deleeuw, S.4    Boxer, J.5    Bonnefont, J.P.6
  • 68
    • 0021053314 scopus 로고
    • Medium-chain acyl-CoA dehydrogenase deficiency in children with non-ketotic hypoglycemia and low carnitine levels./
    • Stanley CA, Hale DE, Coates PM, et al (1983) Medium-chain acyl-CoA dehydrogenase deficiency in children with non-ketotic hypoglycemia and low carnitine levels. Pediatr Res 17: 877-884.
    • (1983) Pediatr Res , vol.17 , pp. 877-884
    • Stanley, C.A.1    Hale, D.E.2    Coates, P.M.3
  • 69
    • 0027024866 scopus 로고
    • Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene
    • Tanaka K, Yokota I, Coates PM, et al (1992) Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene. Hum Mutat 1: 271-279.
    • (1992) Hum Mutat , vol.1 , pp. 271-279
    • Tanaka, K.1    Yokota, I.2    Coates, P.M.3
  • 70
    • 38049177259 scopus 로고    scopus 로고
    • Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin
    • Tein I, Elpeleg O, Ben-Zeev B, et al (2008) Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin. Mol Genet Metab 93: 179-189.
    • (2008) Mol Genet Metab , vol.93 , pp. 179-189
    • Tein, I.1    Elpeleg, O.2    Ben-Zeev, B.3
  • 71
    • 0029976189 scopus 로고    scopus 로고
    • Molecular characterization of mitochondrial trifunctional protein deficiency: Formation of the enzyme complex is important for stabilization of both alpha- and beta-subunits
    • Ushikubo S, Aoyama T, Kamijo T, et al (1996) Molecular characterization of mitochondrial trifunctional protein deficiency: Formation of the enzyme complex is important for stabilization of both alpha- and beta-subunits. Am J Hum Genet 58: 979-988.
    • (1996) Am J Hum Genet , vol.58 , pp. 979-988
    • Ushikubo, S.1    Aoyama, T.2    Kamijo, T.3
  • 72
    • 33747597603 scopus 로고    scopus 로고
    • Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency
    • van Maldegem BT, Duran M, Wanders RJ, et al (2006) Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency. JAMA 296: 943-952.
    • (2006) JAMA , vol.296 , pp. 943-952
    • van Maldegem, B.T.1    Duran, M.2    Wanders, R.J.3
  • 73
    • 0032729243 scopus 로고    scopus 로고
    • Riboflavin therapy. Biochemical heterogeneity in two adult lipid storage myopathies
    • Vergani L, Barile M, Angelini C, et al (1999) Riboflavin therapy. Biochemical heterogeneity in two adult lipid storage myopathies. Brain 122 (Pt 12): 2401-2411.
    • (1999) Brain , vol.122 , Issue.PART 12 , pp. 2401-2411
    • Vergani, L.1    Barile, M.2    Angelini, C.3
  • 74
    • 29344452147 scopus 로고    scopus 로고
    • Medium-chain acyl-CoA dehydrogenase deficiency: Genotype-biochemical phenotype correlations
    • Waddell L, Wiley V, Carpenter K, et al (2006) Medium-chain acyl-CoA dehydrogenase deficiency: Genotype-biochemical phenotype correlations. Mol Genet Metab 87: 32-39.
    • (2006) Mol Genet Metab , vol.87 , pp. 32-39
    • Waddell, L.1    Wiley, V.2    Carpenter, K.3
  • 75
    • 51649085510 scopus 로고    scopus 로고
    • Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: An examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms
    • (in press)
    • Waisbren SE, Levy HL, Noble M, Matern D, Gregersen N, Marsden D (2008) Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: An examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms. Mol Genet Metab (in press).
    • (2008) Mol Genet Metab
    • Waisbren, S.E.1    Levy, H.L.2    Noble, M.3    Matern, D.4    Gregersen, N.5    Marsden, D.6
  • 77
    • 34548758543 scopus 로고    scopus 로고
    • Splicing in disease: Disruption of the splicing code and the decoding machinery
    • Wang GS, Cooper TA (2007) Splicing in disease: Disruption of the splicing code and the decoding machinery. Nat Rev Genet 8: 749-761.
    • (2007) Nat Rev Genet , vol.8 , pp. 749-761
    • Wang, G.S.1    Cooper, T.A.2
  • 78
    • 41949119962 scopus 로고    scopus 로고
    • Clinical and molecular investigations of Japanese cases of glutaric acidemia type 2
    • Yotsumoto Y, Hasegawa Y, Fukuda S, et al (2008) Clinical and molecular investigations of Japanese cases of glutaric acidemia type 2. Mol Genet Metab 94: 61-67.
    • (2008) Mol Genet Metab , vol.94 , pp. 61-67
    • Yotsumoto, Y.1    Hasegawa, Y.2    Fukuda, S.3
  • 79
    • 33750814320 scopus 로고    scopus 로고
    • Structure of electron transfer flavoprotein-ubiquinone oxidoreductase and electron transfer to the mitochondrial ubiquinone pool
    • Zhang J, Frerman FE, Kim JJ (2006) Structure of electron transfer flavoprotein-ubiquinone oxidoreductase and electron transfer to the mitochondrial ubiquinone pool. Proc Natl Acad Sci U S A 103: 16212-16217.
    • (2006) Proc Natl Acad Sci U S A , vol.103 , pp. 16212-16217
    • Zhang, J.1    Frerman, F.E.2    Kim, J.J.3
  • 80
    • 0028899006 scopus 로고
    • Medium chain Acyl-CoA dehydrogenase deficiency in Pennsylvania: Neonatal screening shows high incidence and unexpected mutation frequencies
    • Ziadeh R, Hoffman EP, Finegold DN, et al (1995) Medium chain Acyl-CoA dehydrogenase deficiency in Pennsylvania: Neonatal screening shows high incidence and unexpected mutation frequencies. Pediatr Res 37: 675-678.
    • (1995) Pediatr Res , vol.37 , pp. 675-678
    • Ziadeh, R.1    Hoffman, E.P.2    Finegold, D.N.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.