These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

115 related articles for article (PubMed ID: 17116638)

  • 1. ENU mutagenesis identifies mice with cardiac fibrosis and hepatic steatosis caused by a mutation in the mitochondrial trifunctional protein beta-subunit.
    Kao HJ; Cheng CF; Chen YH; Hung SI; Huang CC; Millington D; Kikuchi T; Wu JY; Chen YT
    Hum Mol Genet; 2006 Dec; 15(24):3569-77. PubMed ID: 17116638
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Complete deficiency of mitochondrial trifunctional protein due to a novel mutation within the beta-subunit of the mitochondrial trifunctional protein gene leads to failure of long-chain fatty acid beta-oxidation with fatal outcome.
    Schwab KO; Ensenauer R; Matern D; Uyanik G; Schnieders B; Wanders RA; Lehnert W
    Eur J Pediatr; 2003 Feb; 162(2):90-5. PubMed ID: 12548384
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Two novel HADHB gene mutations in a Korean patient with mitochondrial trifunctional protein deficiency.
    Park HD; Kim SR; Ki CS; Lee SY; Chang YS; Jin DK; Park WS
    Ann Clin Lab Sci; 2009; 39(4):399-404. PubMed ID: 19880769
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Identification of novel mutations of the HADHA and HADHB genes in patients with mitochondrial trifunctional protein deficiency.
    Choi JH; Yoon HR; Kim GH; Park SJ; Shin YL; Yoo HW
    Int J Mol Med; 2007 Jan; 19(1):81-7. PubMed ID: 17143551
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Isolated mitochondrial long-chain ketoacyl-CoA thiolase deficiency resulting from mutations in the HADHB gene.
    Das AM; Illsinger S; Lücke T; Hartmann H; Ruiter JP; Steuerwald U; Waterham HR; Duran M; Wanders RJ
    Clin Chem; 2006 Mar; 52(3):530-4. PubMed ID: 16423905
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 9. Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations.
    Spiekerkoetter U; Sun B; Khuchua Z; Bennett MJ; Strauss AW
    Hum Mutat; 2003 Jun; 21(6):598-607. PubMed ID: 12754706
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Structural analysis of cDNAs for subunits of human mitochondrial fatty acid beta-oxidation trifunctional protein.
    Kamijo T; Aoyama T; Komiyama A; Hashimoto T
    Biochem Biophys Res Commun; 1994 Mar; 199(2):818-25. PubMed ID: 8135828
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency.
    Boutron A; Acquaviva C; Vianey-Saban C; de Lonlay P; de Baulny HO; Guffon N; Dobbelaere D; Feillet F; Labarthe F; Lamireau D; Cano A; de Villemeur TB; Munnich A; Saudubray JM; Rabier D; Rigal O; Brivet M
    Mol Genet Metab; 2011 Aug; 103(4):341-8. PubMed ID: 21549624
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A patient with mitochondrial trifunctional protein deficiency due to the mutations in the HADHB gene showed recurrent myalgia since early childhood and was diagnosed in adolescence.
    Yagi M; Lee T; Awano H; Tsuji M; Tajima G; Kobayashi H; Hasegawa Y; Yamaguchi S; Takeshima Y; Matsuo M
    Mol Genet Metab; 2011 Dec; 104(4):556-9. PubMed ID: 22000755
    [TBL] [Abstract][Full Text] [Related]  

  • 13. ENU mutagenesis identifies mice with mitochondrial branched-chain aminotransferase deficiency resembling human maple syrup urine disease.
    Wu JY; Kao HJ; Li SC; Stevens R; Hillman S; Millington D; Chen YT
    J Clin Invest; 2004 Feb; 113(3):434-40. PubMed ID: 14755340
    [TBL] [Abstract][Full Text] [Related]  

  • 14. No mutation was found in the alpha-subunit of the mitochondrial tri-functional protein in one patient with severe acute fatty liver of pregnancy and her relatives.
    Kong XF; Zhang XX; Yu YY; Shi Q; La DD; Zhu-Ge CD; Deng L; Gong QM; Shen BY; Peng CH; Li HW
    J Gastroenterol Hepatol; 2007 Dec; 22(12):2107-11. PubMed ID: 18031367
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Alternative splicing in Acad8 resulting a mitochondrial defect and progressive hepatic steatosis in mice.
    Sabbagha NG; Kao HJ; Yang CF; Huang CC; Lin WD; Tsai FJ; Chen TH; Tarn WY; Wu JY; Chen YT
    Pediatr Res; 2011 Jul; 70(1):31-6. PubMed ID: 21659959
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Fluorescence in situ hybridization mapping of the alpha and beta subunits (HADHA and HADHB) of human mitochondrial fatty acid beta-oxidation multienzyme complex to 2p23 and their evolution.
    Aoyama T; Wakui K; Orii KE; Hashimoto T; Fukushima Y
    Cytogenet Cell Genet; 1997; 79(3-4):221-4. PubMed ID: 9605857
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Genomic and mutational analysis of the mitochondrial trifunctional protein beta-subunit (HADHB) gene in patients with trifunctional protein deficiency.
    Orii KE; Aoyama T; Wakui K; Fukushima Y; Miyajima H; Yamaguchi S; Orii T; Kondo N; Hashimoto T
    Hum Mol Genet; 1997 Aug; 6(8):1215-24. PubMed ID: 9259266
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Identification of a Novel HADHB Gene Mutation in an Iranian Patient with Mitochondrial Trifunctional Protein Deficiency.
    Shahrokhi M; Shafiei M; Galehdari H; Shariati G
    Arch Iran Med; 2017 Jan; 20(1):22-27. PubMed ID: 28112527
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Maternal heterozygosity for a mitochondrial trifunctional protein mutation as a cause for liver disease in pregnancy.
    Blish KR; Ibdah JA
    Med Hypotheses; 2005; 64(1):96-100. PubMed ID: 15533621
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.