Literature DB >> 9266371

Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of two new mutations.

L IJlst1, W Oostheim, J P Ruiter, R J Wanders.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1997        PMID： 9266371     DOI： 10.1023/a:1005310903004

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


× No keyword cloud information.
  8 in total

1.  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.

Authors:  Y Uchida; K Izai; T Orii; T Hashimoto
Journal:  J Biol Chem       Date:  1992-01-15       Impact factor: 5.157

2.  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.

Authors:  L IJlst; J P Ruiter; J M Hoovers; M E Jakobs; R J Wanders
Journal:  J Clin Invest       Date:  1996-08-15       Impact factor: 14.808

3.  Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: high frequency of the G1528C mutation with no apparent correlation with the clinical phenotype.

Authors:  L Ijlst; S Uskikubo; T Kamijo; T Hashimoto; J P Ruiter; J B de Klerk; R J Wanders
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

4.  Human liver long-chain 3-hydroxyacyl-coenzyme A dehydrogenase is a multifunctional membrane-bound beta-oxidation enzyme of mitochondria.

Authors:  K Carpenter; R J Pollitt; B Middleton
Journal:  Biochem Biophys Res Commun       Date:  1992-03-16       Impact factor: 3.575

5.  Mitochondrial trifunctional protein deficiency. Catalytic heterogeneity of the mutant enzyme in two patients.

Authors:  T Kamijo; R J Wanders; J M Saudubray; T Aoyama; A Komiyama; T Hashimoto
Journal:  J Clin Invest       Date:  1994-04       Impact factor: 14.808

6.  The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy.

Authors:  H F Sims; J C Brackett; C K Powell; W R Treem; D E Hale; M J Bennett; B Gibson; S Shapiro; A W Strauss
Journal:  Proc Natl Acad Sci U S A       Date:  1995-01-31       Impact factor: 11.205

7.  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.

Authors:  L IJlst; R J Wanders; S Ushikubo; T Kamijo; T Hashimoto
Journal:  Biochim Biophys Acta       Date:  1994-12-08

8.  Structural analysis of cDNAs for subunits of human mitochondrial fatty acid beta-oxidation trifunctional protein.

Authors:  T Kamijo; T Aoyama; A Komiyama; T Hashimoto
Journal:  Biochem Biophys Res Commun       Date:  1994-03-15       Impact factor: 3.575
  8 in total
  2 in total

Review 1.  Acute fatty liver of pregnancy.

Authors:  H Ko; Eric M Yoshida
Journal:  Can J Gastroenterol       Date:  2006-01       Impact factor: 3.522

2.  Diagnosis, Treatment, and Clinical Outcome of Patients with Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency.

Authors:  Irene De Biase; Krista S Viau; Aiping Liu; Tatiana Yuzyuk; Lorenzo D Botto; Marzia Pasquali; Nicola Longo
Journal:  JIMD Rep       Date:  2016-04-28
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.