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Volumn 187, Issue 3, 2002, Pages 715-720

Fetal genotypes and pregnancy outcomes in 35 families with mitochondrial trifunctional protein mutations

Author keywords

Fatty acid; Fetal genotype; Inborn error; Mitochondria; Pregnancy

Indexed keywords

3 HYDROXYACYL COENZYME A DEHYDROGENASE;

EID: 0036740490     PISSN: 00029378     EISSN: None     Source Type: Journal    
DOI: 10.1067/mob.2002.125893     Document Type: Article
Times cited : (91)

References (25)
  • 1
    • 0026515859 scopus 로고
    • Novel fatty acid β-oxidation enzymes in rat liver mitochondria. II. Purification and properties of enoyl-coenzyme A (CoA) hydratase/3-hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase trifunctional protein
    • Uchida Y, Izai K, Orii T, Hashimoto T. Novel fatty acid β-oxidation enzymes in rat liver mitochondria. II. Purification and properties of enoyl-coenzyme A (CoA) hydratase/3-hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase trifunctional protein. J Biol Chem 1992;267:1034-41.
    • (1992) J Biol Chem , vol.267 , pp. 1034-1041
    • Uchida, Y.1    Izai, K.2    Orii, T.3    Hashimoto, T.4
  • 3
    • 0028223596 scopus 로고
    • Structural analysis of cDNAs for subunits of human mitochondrial fatty acid beta-oxidation trifunctional protein
    • Kamijo T, Aoyama T, Komiyama A, Hashimoto T. Structural analysis of cDNAs for subunits of human mitochondrial fatty acid beta-oxidation trifunctional protein. Biochem Biophys Res Comm 1994;199:818-25.
    • (1994) Biochem Biophys Res Comm , vol.199 , pp. 818-825
    • Kamijo, T.1    Aoyama, T.2    Komiyama, A.3    Hashimoto, T.4
  • 4
    • 0029835610 scopus 로고    scopus 로고
    • Common missense mutation E474Q in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency-characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein alpha subunit gene
    • IJlst L, Ruiter JPN, Hoovers JMN, Jakobs ME, Wanders RJA. Common missense mutation E474Q in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency-characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein alpha subunit gene. J Clin Invest 1996;98:1028-33.
    • (1996) J Clin Invest , vol.98 , pp. 1028-1033
    • IJlst, L.1    Ruiter, J.P.N.2    Hoovers, J.M.N.3    Jakobs, M.E.4    Wanders, R.J.A.5
  • 5
    • 0029976189 scopus 로고    scopus 로고
    • Molecular characterization of mitochondrial trifunctional protein deficiency: Formation of the enzyme complex is important for stabilization of both α- and β-subunits
    • Ushikubo S, Aoyama T, Kamijo T, Wanders RJA, Rinaldo P, Vockley J, et al. Molecular characterization of mitochondrial trifunctional protein deficiency: formation of the enzyme complex is important for stabilization of both α- and β-subunits. Am J Hum Genet 1996;58:979-88.
    • (1996) Am J Hum Genet , vol.58 , pp. 979-988
    • Ushikubo, S.1    Aoyama, T.2    Kamijo, T.3    Wanders, R.J.A.4    Rinaldo, P.5    Vockley, J.6
  • 7
    • 0029063809 scopus 로고
    • Clinical and biochemical presentation of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
    • Hagenfeldt L, Venizelos N, von Dobeln U. Clinical and biochemical presentation of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. J Inherit Metab Dis 1995;18:245-8.
    • (1995) J Inherit Metab Dis , vol.18 , pp. 245-248
    • Hagenfeldt, L.1    Venizelos, N.2    Von Dobeln, U.3
  • 9
  • 10
    • 0032531101 scopus 로고    scopus 로고
    • Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation
    • Ibdah JA, Tein I, Dionisi-Vici C, Bennett MJ, IJlst L, Gibson B, et al. Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation. J Clin Invest 1998;102:1193-9.
    • (1998) J Clin Invest , vol.102 , pp. 1193-1199
    • Ibdah, J.A.1    Tein, I.2    Dionisi-Vici, C.3    Bennett, M.J.4    IJlst, L.5    Gibson, B.6
  • 11
    • 0033519714 scopus 로고    scopus 로고
    • A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women
    • Ibdah JA, Bennett MJ, Rinaldo P, Zhao Y, Gibson B, Sims HF, et al. A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women. N Engl J Med 1999;340:1723-31.
    • (1999) N Engl J Med , vol.340 , pp. 1723-1731
    • Ibdah, J.A.1    Bennett, M.J.2    Rinaldo, P.3    Zhao, Y.4    Gibson, B.5    Sims, H.F.6
  • 12
    • 0031981027 scopus 로고    scopus 로고
    • Pregnancy complications are frequent in long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
    • Tyni T, Ekholm E, Pihko H. Pregnancy complications are frequent in long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. Am J Obstet Gynecol 1998;178:603-8.
    • (1998) Am J Obstet Gynecol , vol.178 , pp. 603-608
    • Tyni, T.1    Ekholm, E.2    Pihko, H.3
  • 13
    • 0028888960 scopus 로고
    • The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy
    • Sims HF, Brackett JC, Powell CK, Treem WR, Hale DE, Bennett MJ, et al. The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy. Proc Natl Acad Sci U S A 1995;92:841-5.
    • (1995) Proc Natl Acad Sci U S A , vol.92 , pp. 841-845
    • Sims, H.F.1    Brackett, J.C.2    Powell, C.K.3    Treem, W.R.4    Hale, D.E.5    Bennett, M.J.6
  • 14
    • 0032845048 scopus 로고    scopus 로고
    • Long-chain 3-hydroxyacyl-CoA deficiency: Variable expressivity of maternal illness during pregnancy and unusual presentation with infantile cholestasis and hypocalcemia
    • Ibdah JA, Dasouki MJ, Strauss AW. Long-chain 3-hydroxyacyl-CoA deficiency: variable expressivity of maternal illness during pregnancy and unusual presentation with infantile cholestasis and hypocalcemia. J Inherit Metab Dis 1999;22:811-4.
    • (1999) J Inherit Metab Dis , vol.22 , pp. 811-814
    • Ibdah, J.A.1    Dasouki, M.J.2    Strauss, A.W.3
  • 15
    • 0035089930 scopus 로고    scopus 로고
    • Molecular prenatal diagnosis in families with mitochondrial trifunctional protein mutations
    • Ibdah JA, Zhao Y, Viola J, Gibson B, Bennett MJ, Strauss AW. Molecular prenatal diagnosis in families with mitochondrial trifunctional protein mutations. J Pediatr 2001;138:396-9.
    • (2001) J Pediatr , vol.138 , pp. 396-399
    • Ibdah, J.A.1    Zhao, Y.2    Viola, J.3    Gibson, B.4    Bennett, M.J.5    Strauss, A.W.6
  • 16
    • 0029761214 scopus 로고    scopus 로고
    • Liver disease in pregnancy
    • Knox TA, Olans LB. Liver disease in pregnancy. N Engl J Med 1996;335:569-76.
    • (1996) N Engl J Med , vol.335 , pp. 569-576
    • Knox, T.A.1    Olans, L.B.2
  • 17
    • 0032976655 scopus 로고    scopus 로고
    • Liver disease in the pregnant patient
    • Riely CA. Liver disease in the pregnant patient. Am J Gastroenterol 1999;94:1728-32.
    • (1999) Am J Gastroenterol , vol.94 , pp. 1728-1732
    • Riely, C.A.1
  • 20
    • 0024595101 scopus 로고
    • Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms
    • Orita M, Iwahana H, Kanazawa H, Hayashi K, Sekiya T. Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc Natl Acad Sci U S A 1989;86:2766-70.
    • (1989) Proc Natl Acad Sci U S A , vol.86 , pp. 2766-2770
    • Orita, M.1    Iwahana, H.2    Kanazawa, H.3    Hayashi, K.4    Sekiya, T.5
  • 23
    • 0033941464 scopus 로고    scopus 로고
    • The HELLP syndrome associated with fetal medium-chain zcyl-CoA dehydrogenase deficiency
    • Nelson J, Lewis B, Walters B. The HELLP syndrome associated with fetal medium-chain zcyl-CoA dehydrogenase deficiency. J Inherit Metab Dis 2000;23:518-9.
    • (2000) J Inherit Metab Dis , vol.23 , pp. 518-519
    • Nelson, J.1    Lewis, B.2    Walters, B.3
  • 24
    • 0035054242 scopus 로고    scopus 로고
    • Acute fatty liver of pregnancy associated with short-chain acyl-coenzyme A dehydrogenase deficiency
    • Matern D, Hart P, Murtha AP, Vockley J, Gregersen N, Millington DS, et al. Acute fatty liver of pregnancy associated with short-chain acyl-coenzyme A dehydrogenase deficiency. J Pediatr 2001;138:585-8.
    • (2001) J Pediatr , vol.138 , pp. 585-588
    • Matern, D.1    Hart, P.2    Murtha, A.P.3    Vockley, J.4    Gregersen, N.5    Millington, D.S.6
  • 25
    • 0034987233 scopus 로고    scopus 로고
    • Lack of mitochondrial trifunctional protein in mice causes neonatal hypoglycemia and sudden death
    • Ibdah JA, Paul H, Zhao Y, Binford S, Salleng K, Cline M, et al. Lack of mitochondrial trifunctional protein in mice causes neonatal hypoglycemia and sudden death. J Clin Invest 2001;107:1403-9.
    • (2001) J Clin Invest , vol.107 , pp. 1403-1409
    • Ibdah, J.A.1    Paul, H.2    Zhao, Y.3    Binford, S.4    Salleng, K.5    Cline, M.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.