BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

142 related articles for article (PubMed ID: 3752080)

  • 1. Argininosuccinate lyase deficiency: evidence for heterogeneous structural gene mutations by immunoblotting.
    Simard L; O'Brien WE; McInnes RR
    Am J Hum Genet; 1986 Jul; 39(1):38-51. PubMed ID: 3752080
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Interallelic complementation in an inborn error of metabolism: genetic heterogeneity in argininosuccinate lyase deficiency.
    McInnes RR; Shih V; Chilton S
    Proc Natl Acad Sci U S A; 1984 Jul; 81(14):4480-4. PubMed ID: 6589607
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Molecular analysis of human argininosuccinate lyase: mutant characterization and alternative splicing of the coding region.
    Walker DC; McCloskey DA; Simard LR; McInnes RR
    Proc Natl Acad Sci U S A; 1990 Dec; 87(24):9625-9. PubMed ID: 2263616
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Studies on complementation in argininosuccinate synthetase and argininosuccinate lyase deficiencies in human fibroblasts.
    Cathelineau L; Pham Dinh D; Briand P; Kamoun P
    Hum Genet; 1981; 57(3):282-4. PubMed ID: 7250970
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Absence of argininosuccinate lyase protein in the liver of two patients with argininosuccinic aciduria.
    Kobayashi K; Itakura Y; Saheki T; Nakano K; Sase M; Oyanagi K; Okamoto R; Mino M
    Clin Chim Acta; 1986 Aug; 159(1):59-67. PubMed ID: 3757266
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Argininosuccinate lyase: purification and characterization from human liver.
    O'Brien WE; Barr RH
    Biochemistry; 1981 Mar; 20(7):2056-60. PubMed ID: 6784763
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria.
    Hu L; Pandey AV; Balmer C; Eggimann S; Rüfenacht V; Nuoffer JM; Häberle J
    J Inherit Metab Dis; 2015 Sep; 38(5):815-27. PubMed ID: 25778938
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Functional complementation in yeast allows molecular characterization of missense argininosuccinate lyase mutations.
    Trevisson E; Burlina A; Doimo M; Pertegato V; Casarin A; Cesaro L; Navas P; Basso G; Sartori G; Salviati L
    J Biol Chem; 2009 Oct; 284(42):28926-34. PubMed ID: 19703900
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Argininosuccinic aciduria: assignment of the argininosuccinate lyase gene to the pter to q22 region of human chromosome 7 by bioautography.
    Naylor SL; Klebe RJ; Shows TB
    Proc Natl Acad Sci U S A; 1978 Dec; 75(12):6159-62. PubMed ID: 282632
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Complementation in argininosuccinate synthetase and argininosuccinate lyase deficiencies in human fibroblasts.
    Cathelineau L; Pham Dinh D; Briand P; Kamoun P
    Adv Exp Med Biol; 1982; 153():101-10. PubMed ID: 7164890
    [No Abstract]   [Full Text] [Related]  

  • 11. Neonatal argininosuccinic aciduria with normal brain and kidney but absent liver argininosuccinate lyase activity.
    Glick NR; Snodgrass PJ; Schafer IA
    Am J Hum Genet; 1976 Jan; 28(1):22-30. PubMed ID: 174426
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Understanding the role of argininosuccinate lyase transcript variants in the clinical and biochemical variability of the urea cycle disorder argininosuccinic aciduria.
    Hu L; Pandey AV; Eggimann S; Rüfenacht V; Möslinger D; Nuoffer JM; Häberle J
    J Biol Chem; 2013 Nov; 288(48):34599-611. PubMed ID: 24136197
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Intragenic complementation at the human argininosuccinate lyase locus. Identification of the major complementing alleles.
    Walker DC; Christodoulou J; Craig HJ; Simard LR; Ploder L; Howell PL; McInnes RR
    J Biol Chem; 1997 Mar; 272(10):6777-83. PubMed ID: 9045711
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria.
    Engel K; Vuissoz JM; Eggimann S; Groux M; Berning C; Hu L; Klaus V; Moeslinger D; Mercimek-Mahmutoglu S; Stöckler S; Wermuth B; Häberle J; Nuoffer JM
    J Inherit Metab Dis; 2012 Jan; 35(1):133-40. PubMed ID: 21667091
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Fine structure of the arg-7 ciston in chlamydomonas reinhardi. Complementation between arg-7 mutants defective in argininosuccinate lyase.
    Matagne RF
    Mol Gen Genet; 1978 Mar; 160(1):95-9. PubMed ID: 642927
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene.
    Balmer C; Pandey AV; Rüfenacht V; Nuoffer JM; Fang P; Wong LJ; Häberle J
    Hum Mutat; 2014 Jan; 35(1):27-35. PubMed ID: 24166829
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Argininosuccinic acid synthetase deficiency in a hamster cell line and its complementation of argininosuccinic aciduria human fibroblasts.
    González-Noriega A; Verduzco J; Prieto E; Velázquez A
    J Inherit Metab Dis; 1980; 3(2):45-8. PubMed ID: 6777600
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Intragenic complementation and the structure and function of argininosuccinate lyase.
    Yu B; Howell PL
    Cell Mol Life Sci; 2000 Oct; 57(11):1637-51. PubMed ID: 11092456
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Two novel mutations (E86A, R113W) in argininosuccinate lyase deficiency and evidence for highly variable splicing of the human argininosuccinate lyase gene.
    Linnebank M; Homberger A; Rapp B; Winter C; Marquardt T; Harms E; Koch HG
    J Inherit Metab Dis; 2000 Jun; 23(4):308-12. PubMed ID: 10896281
    [No Abstract]   [Full Text] [Related]  

  • 20. Analysis of naturally occurring and site-directed mutations in the argininosuccinate lyase gene.
    Barbosa P; Cialkowski M; O'Brien WE
    J Biol Chem; 1991 Mar; 266(8):5286-90. PubMed ID: 1705937
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.