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 *

134 related articles for article (PubMed ID: 8440722)

  • 1. 3-Hydroxy-3-methylglutaryl coenzyme A lyase (HL). Cloning of human and chicken liver HL cDNAs and characterization of a mutation causing human HL deficiency.
    Mitchell GA; Robert MF; Hruz PW; Wang S; Fontaine G; Behnke CE; Mende-Mueller LM; Schappert K; Lee C; Gibson KM; Miziorko HM
    J Biol Chem; 1993 Feb; 268(6):4376-81. PubMed ID: 8440722
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 3-Hydroxy-3-methylglutaryl CoA lyase (HL): mouse and human HL gene (HMGCL) cloning and detection of large gene deletions in two unrelated HL-deficient patients.
    Wang SP; Robert MF; Gibson KM; Wanders RJ; Mitchell GA
    Genomics; 1996 Apr; 33(1):99-104. PubMed ID: 8617516
    [TBL] [Abstract][Full Text] [Related]  

  • 3. HMG CoA lyase deficiency: identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q.
    Mitchell GA; Ozand PT; Robert MF; Ashmarina L; Roberts J; Gibson KM; Wanders RJ; Wang S; Chevalier I; Plöchl E; Miziorko H
    Am J Hum Genet; 1998 Feb; 62(2):295-300. PubMed ID: 9463337
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 3-Hydroxy-3-methylglutaryl coenzyme A lyase (HL): cloning and characterization of a mouse liver HL cDNA and subchromosomal mapping of the human and mouse HL genes.
    Wang S; Nadeau JH; Duncan A; Robert MF; Fontaine G; Schappert K; Johnson KR; Zietkiewicz E; Hruz P; Miziorko H
    Mamm Genome; 1993; 4(7):382-7. PubMed ID: 8102917
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A two-base deletion in exon 6 of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene producing the skipping of exons 5 and 6 determines 3-hydroxy-3-methylglutaric aciduria.
    Casals N; Pié J; Casale CH; Zapater N; Ribes A; Castro-Gago M; Rodriguez-Segade S; Wanders RJ; Hegardt FG
    J Lipid Res; 1997 Nov; 38(11):2303-13. PubMed ID: 9392428
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Molecular and clinical analysis of Japanese patients with 3-hydroxy-3-methylglutaryl CoA lyase (HL) deficiency.
    Muroi J; Yorifuji T; Uematsu A; Shigematsu Y; Onigata K; Maruyama H; Nobutoki T; Kitamura A; Nakahata T
    Hum Genet; 2000 Oct; 107(4):320-6. PubMed ID: 11129331
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A nonsense mutation in the exon 2 of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene producing three mature mRNAs is the main cause of 3-hydroxy-3-methylglutaric aciduria in European Mediterranean patients.
    Casale CH; Casals N; Pié J; Zapater N; Pérez-Cerdá C; Merinero B; Martínez-Pardo M; García-Peñas JJ; García-Gonzalez JM; Lama R; Poll-The BT; Smeitink JA; Wanders RJ; Ugarte M; Hegardt FG
    Arch Biochem Biophys; 1998 Jan; 349(1):129-37. PubMed ID: 9439591
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Molecular basis of 3-hydroxy-3-methylglutaric aciduria.
    Pie J; Casals N; Puisac B; Hegardt FG
    J Physiol Biochem; 2003 Dec; 59(4):311-21. PubMed ID: 15164951
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A nonsense mutation in the 3-hydroxy-3-methylglutaryl-CoA lyase gene produces exon skipping in two patients of different origin with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
    Pié J; Casals N; Casale CH; Buesa C; Mascaró C; Barceló A; Rolland MO; Zabot T; Haro D; Eyskens F; Divry P; Hegardt FG
    Biochem J; 1997 Apr; 323 ( Pt 2)(Pt 2):329-35. PubMed ID: 9163320
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Rat mitochondrial and cytosolic 3-hydroxy-3-methylglutaryl-CoA synthases are encoded by two different genes.
    Ayté J; Gil-Gómez G; Haro D; Marrero PF; Hegardt FG
    Proc Natl Acad Sci U S A; 1990 May; 87(10):3874-8. PubMed ID: 1971108
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Molecular analysis of Taiwanese patients with 3-hydroxy-3-methylglutaryl CoA lyase deficiency.
    Lin WD; Wang CH; Lai CC; Tsai Y; Wu JY; Chen CP; Tsai FJ
    Clin Chim Acta; 2009 Mar; 401(1-2):33-6. PubMed ID: 19036343
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Characterization of the hydroxymethylglutaryl-CoA lyase precursor, a protein targeted to peroxisomes and mitochondria.
    Ashmarina LI; Robert MF; Elsliger MA; Mitchell GA
    Biochem J; 1996 Apr; 315 ( Pt 1)(Pt 1):71-5. PubMed ID: 8670134
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 3-Hydroxy-3-methylglutaryl coenzyme a lyase deficiency with reversible white matter changes after treatment.
    Zafeiriou DI; Vargiami E; Mayapetek E; Augoustidou-Savvopoulou P; Mitchell GA
    Pediatr Neurol; 2007 Jul; 37(1):47-50. PubMed ID: 17628222
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 3-Hydroxy-3-methylglutaryl-CoA lyase (HL): gene targeting causes prenatal lethality in HL-deficient mice.
    Wang SP; Marth JD; Oligny LL; Vachon M; Robert MF; Ashmarina L; Mitchell GA
    Hum Mol Genet; 1998 Dec; 7(13):2057-62. PubMed ID: 9817922
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Molecular prenatal diagnosis of 3-hydroxy-3-methylglutaryl CoA lyase deficiency.
    Mitchell GA; Jakobs C; Gibson KM; Robert MF; Burlina A; Dionisi-Vici C; Dallaire L
    Prenat Diagn; 1995 Aug; 15(8):725-9. PubMed ID: 7479590
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: review of 18 reported patients.
    Gibson KM; Breuer J; Nyhan WL
    Eur J Pediatr; 1988 Dec; 148(3):180-6. PubMed ID: 3063529
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Nucleotide sequence of a rat liver cDNA encoding the cytosolic 3-hydroxy-3-methylglutaryl coenzyme A synthase.
    Ayté J; Gil-Gómez G; Hegardt FG
    Nucleic Acids Res; 1990 Jun; 18(12):3642. PubMed ID: 1972979
    [No Abstract]   [Full Text] [Related]  

  • 18. Isolation, primary structure, and evolution of the third component of chicken complement and evidence for a new member of the alpha 2-macroglobulin family.
    Mavroidis M; Sunyer JO; Lambris JD
    J Immunol; 1995 Mar; 154(5):2164-74. PubMed ID: 7532662
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Molecular genetics of HMG-CoA lyase deficiency.
    Pié J; López-Viñas E; Puisac B; Menao S; Pié A; Casale C; Ramos FJ; Hegardt FG; Gómez-Puertas P; Casals N
    Mol Genet Metab; 2007 Nov; 92(3):198-209. PubMed ID: 17692550
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Expression of chicken hepatic type I and type III iodothyronine deiodinases during embryonic development.
    Van der Geyten S; Sanders JP; Kaptein E; Darras VM; Kühn ER; Leonard JL; Visser TJ
    Endocrinology; 1997 Dec; 138(12):5144-52. PubMed ID: 9389494
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.