322 related articles for article (PubMed ID: 8163672)
1. Mitochondrial trifunctional protein deficiency. Catalytic heterogeneity of the mutant enzyme in two patients.
Kamijo T; Wanders RJ; Saudubray JM; Aoyama T; Komiyama A; Hashimoto T
J Clin Invest; 1994 Apr; 93(4):1740-7. PubMed ID: 8163672
[TBL] [Abstract][Full Text] [Related]
2. Combined defect of long-chain 3-hydroxyacyl-CoA dehydrogenase, 2-enoyl-CoA hydratase and 3-oxoacyl-CoA thiolase.
Jackson S; Kler RS; Bartlett K; Pourfarzam M; Aynsley-Green A; Bindoff LA; Turnbull DM
Prog Clin Biol Res; 1992; 375():327-37. PubMed ID: 1438378
[No Abstract] [Full Text] [Related]
3. beta-Oxidation enzymes in fibroblasts from patients with 3-hydroxydicarboxylic aciduria.
Venizelos N; Ijlst L; Wanders RJ; Hagenfeldt L
Pediatr Res; 1994 Jul; 36(1 Pt 1):111-4. PubMed ID: 7936829
[TBL] [Abstract][Full Text] [Related]
4. Combined enzyme defect of mitochondrial fatty acid oxidation.
Jackson S; Kler RS; Bartlett K; Briggs H; Bindoff LA; Pourfarzam M; Gardner-Medwin D; Turnbull DM
J Clin Invest; 1992 Oct; 90(4):1219-25. PubMed ID: 1401059
[TBL] [Abstract][Full Text] [Related]
5. Novel fatty acid beta-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
J Biol Chem; 1992 Jan; 267(2):1034-41. PubMed ID: 1730633
[TBL] [Abstract][Full Text] [Related]
6. Differentiation of long-chain fatty acid oxidation disorders using alternative precursors and acylcarnitine profiling in fibroblasts.
Roe DS; Yang BZ; Vianey-Saban C; Struys E; Sweetman L; Roe CR
Mol Genet Metab; 2006 Jan; 87(1):40-7. PubMed ID: 16297647
[TBL] [Abstract][Full Text] [Related]
7. Molecular cloning of the cDNAs for the subunits of rat mitochondrial fatty acid beta-oxidation multienzyme complex. Structural and functional relationships to other mitochondrial and peroxisomal beta-oxidation enzymes.
Kamijo T; Aoyama T; Miyazaki J; Hashimoto T
J Biol Chem; 1993 Dec; 268(35):26452-60. PubMed ID: 8253773
[TBL] [Abstract][Full Text] [Related]
8. Complementation analysis of fibroblasts from peroxisomal fatty acid oxidation deficient patients shows high frequency of bifunctional enzyme deficiency plus intragenic complementation: unequivocal evidence for differential defects in the same enzyme protein.
van Grunsven EG; van Roermund CW; Denis S; Wanders RJ
Biochem Biophys Res Commun; 1997 Jun; 235(1):176-9. PubMed ID: 9196058
[TBL] [Abstract][Full Text] [Related]
9. Histidine-450 is the catalytic residue of L-3-hydroxyacyl coenzyme A dehydrogenase associated with the large alpha-subunit of the multienzyme complex of fatty acid oxidation from Escherichia coli.
He XY; Yang SY
Biochemistry; 1996 Jul; 35(29):9625-30. PubMed ID: 8755745
[TBL] [Abstract][Full Text] [Related]
10. 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; Strauss AW
N Engl J Med; 1999 Jun; 340(22):1723-31. PubMed ID: 10352164
[TBL] [Abstract][Full Text] [Related]
11. Purification and characterization of the trifunctional beta-oxidation complex from pig heart mitochondria.
Luo MJ; He XY; Sprecher H; Schulz H
Arch Biochem Biophys; 1993 Jul; 304(1):266-71. PubMed ID: 8323290
[TBL] [Abstract][Full Text] [Related]
12. Human trifunctional protein deficiency: a new disorder of mitochondrial fatty acid beta-oxidation.
Wanders RJ; IJlst L; Poggi F; Bonnefont JP; Munnich A; Brivet M; Rabier D; Saudubray JM
Biochem Biophys Res Commun; 1992 Nov; 188(3):1139-45. PubMed ID: 1445348
[TBL] [Abstract][Full Text] [Related]
13. General mitochondrial trifunctional protein (TFP) deficiency as a result of either alpha- or beta-subunit mutations exhibits similar phenotypes because mutations in either subunit alter TFP complex expression and subunit turnover.
Spiekerkoetter U; Khuchua Z; Yue Z; Bennett MJ; Strauss AW
Pediatr Res; 2004 Feb; 55(2):190-6. PubMed ID: 14630990
[TBL] [Abstract][Full Text] [Related]
14. Common missense mutation G1528C 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 JP; Hoovers JM; Jakobs ME; Wanders RJ
J Clin Invest; 1996 Aug; 98(4):1028-33. PubMed ID: 8770876
[TBL] [Abstract][Full Text] [Related]
15. Intact alpha-subunit is required for membrane-binding of human mitochondrial trifunctional beta-oxidation protein, but is not necessary for conferring 3-ketoacyl-CoA thiolase activity to the beta-subunit.
Weinberger MJ; Rinaldo P; Strauss AW; Bennett MJ
Biochem Biophys Res Commun; 1995 Apr; 209(1):47-52. PubMed ID: 7726862
[TBL] [Abstract][Full Text] [Related]
16. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: high frequency of the G1528C mutation with no apparent correlation with the clinical phenotype.
Ijlst L; Uskikubo S; Kamijo T; Hashimoto T; Ruiter JP; de Klerk JB; Wanders RJ
J Inherit Metab Dis; 1995; 18(2):241-4. PubMed ID: 7564258
[No Abstract] [Full Text] [Related]
17. Defect in biosynthesis of mitochondrial acetoacetyl-coenzyme A thiolase in cultured fibroblasts from a boy with 3-ketothiolase deficiency.
Yamaguchi S; Orii T; Sakura N; Miyazawa S; Hashimoto T
J Clin Invest; 1988 Mar; 81(3):813-7. PubMed ID: 2893809
[TBL] [Abstract][Full Text] [Related]
18. Role of short-chain hydroxyacyl CoA dehydrogenases in SCHAD deficiency.
Filling C; Keller B; Hirschberg D; Marschall HU; Jörnvall H; Bennett MJ; Oppermann U
Biochem Biophys Res Commun; 2008 Mar; 368(1):6-11. PubMed ID: 18036338
[TBL] [Abstract][Full Text] [Related]
19. Mitochondrial fatty acid beta-oxidation in the human eye and brain: implications for the retinopathy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
Tyni T; Paetau A; Strauss AW; Middleton B; Kivelä T
Pediatr Res; 2004 Nov; 56(5):744-50. PubMed ID: 15347768
[TBL] [Abstract][Full Text] [Related]
20. [Anesthetic management in a patient with trifunctional protein deficiency].
Makise K; Inagawa G; Ka K
Masui; 2011 May; 60(5):628-30. PubMed ID: 21626870
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
