124 related articles for article (PubMed ID: 22231378)
1. Yeast complementation is sufficiently sensitive to detect the residual activity of ASL alleles associated with mild forms of argininosuccinic aciduria.
Doimo M; Trevisson E; Sartori G; Burlina A; Salviati L
J Inherit Metab Dis; 2012 May; 35(3):557-8. PubMed ID: 22231378
[No Abstract] [Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. Gene symbol: ASL. Disease: Argininosuccinate lyase deficiency.
Trevisson E; Salviati L; Baldoin MC; Casarin A; Basso G; Burlina A
Hum Genet; 2008 Oct; 124(3):303. PubMed ID: 18846632
[No Abstract] [Full Text] [Related]
9. Gene symbol: ASL. Disease: Argininosuccinate lyase deficiency.
Trevisson E; Salviati L; Baldoin MC; Casarin A; Basso G; Burlina A
Hum Genet; 2008 Oct; 124(3):303. PubMed ID: 18846631
[No Abstract] [Full Text] [Related]
10. 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]
11. 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]
12. Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene.
Linnebank M; Tschiedel E; Häberle J; Linnebank A; Willenbring H; Kleijer WJ; Koch HG
Hum Genet; 2002 Oct; 111(4-5):350-9. PubMed ID: 12384776
[TBL] [Abstract][Full Text] [Related]
13. A novel stop codon mutation (X465Y) in the argininosuccinate lyase gene in a patient with argininosuccinic aciduria.
Tanaka T; Nagao M; Mori T; Tsutsumi H
Tohoku J Exp Med; 2002 Oct; 198(2):119-24. PubMed ID: 12512996
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Three-dimensional structure of the argininosuccinate lyase frequently complementing allele Q286R.
Sampaleanu LM; Vallée F; Thompson GD; Howell PL
Biochemistry; 2001 Dec; 40(51):15570-80. PubMed ID: 11747432
[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. From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria.
Zielonka M; Garbade SF; Gleich F; Okun JG; Nagamani SCS; Gropman AL; Hoffmann GF; Kölker S; Posset R;
Hum Mutat; 2020 May; 41(5):946-960. PubMed ID: 31943503
[TBL] [Abstract][Full Text] [Related]
18. Mechanisms for intragenic complementation at the human argininosuccinate lyase locus.
Yu B; Thompson GD; Yip P; Howell PL; Davidson AR
Biochemistry; 2001 Dec; 40(51):15581-90. PubMed ID: 11747433
[TBL] [Abstract][Full Text] [Related]
19. NGS in argininosuccinic aciduria detects a mutation (D145G) which drives alternative splicing of ASL: a case report study.
Wen W; Yin D; Huang F; Guo M; Tian T; Zhu H; Yang Y
BMC Med Genet; 2016 Feb; 17():9. PubMed ID: 26843370
[TBL] [Abstract][Full Text] [Related]
20. Intragenic complementation at the argininosuccinate lyase locus: reconstruction of the active site.
Howell PL; Turner MA; Christodoulou J; Walker DC; Craig HJ; Simard LR; Ploder L; McInnes RR
J Inherit Metab Dis; 1998; 21 Suppl 1():72-85. PubMed ID: 9686346
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
