Recombinant Human Argininosuccinate lyase (ASL)

1. The remaining five patients were diagnosed with neonatal intrahepatic cholestasis due to citrin deficiency, and have respectively carried mutations of the SLC25A13 gene including [c.851-854delGTAT+c.851-854delGTAT], [c.851-854delGTAT+IVS6+5G>A], [c.851-854delGTAT+IVS16ins3kb], [c.851-854delGTAT+IVS6-11A>G] and [c.851-854delGTAT+c.1638-1660dup23] PMID: 28981931
2. Overexpression of ASL may be a contributing factor in drug resistance for arginine deprivation therapy. PMID: 28035420
3. ASL-targeting shRNA-induced growth inhibition is associated with decreased cyclin A2 expression and Nitric oxide content in colon cancer. PMID: 27840980
4. the mechanism induced by ASL shRNA which occurred in human breast cancer may be attributed to a decrease in cyclin A2 and NO. PMID: 26397737
5. The clinical and biochemical course in variant forms of ASL deficiency is associated with relevant residual levels of ASL activity as well as instability of mutant ASL proteins. PMID: 25778938
6. Point mutation of ASS1, ASL and SLC25A13 is associated with citrullinemia. PMID: 24927999
7. Data show that in patients with Argininosuccinate lyase deficiency, the ASl gene is subject to several mutations, the majority are missense; some more frequent then others. PMID: 24166829
8. Our results suggest that ASL transcripts can contribute to the highly variable phenotype in ASA patients if expressed at high levels. PMID: 24136197
9. Cox regression analysis showed that ASL is an independent prognostic marker for HCC. Therefore, reduced ASL expression may be a novel maker for poor prognosis in HCC patients PMID: 22531684
10. analysis of mutant argininosuccinate lyase in argininosuccinic aciduria PMID: 21667091
11. extent of protection of ASL and delta-crystallin at different ratios of alphaA-crystallin PMID: 20937351
12. MDR analysis provided evidence of interaction between the genes for ASS1 and SLC25A13 on the risk of CL/P. PMID: 20739017
13. Structural studies of the ASL frequently complementing allele Q286R suggest that the mutation may hinder a conformational change in the 280's loop (residues 270-290) and domain 3 that may be important for catalysis. PMID: 11747432
14. Complementation can occur at the ASL locus between thermolabile mutants and stable mutants by stabilization of the active oligomeric form of the hybrid enzyme, which may be sufficiently stable for catalysis to occur. PMID: 11747433
15. complete sequence of the human ASL gene and a complete ASL homologue on chromosome 22 PMID: 12384776
16. argininosuccinic aciduria patients of different ethnic backgrounds who are characterized by residual activity of argininosuccinate lyase and who present with less severe clinical courses. PMID: 12408190
17. This unique mutation causes an elongation of fifty amino acids in the C-terminal region of the ASL protein, and is likely related to a milder phenotype compared with previously reported mutations. PMID: 12512996
18. a novel ASL pseudogene located in the centromeric region of chromosome 7, 14 novel mutations in the ASL gene, and a novel intronic polymorphism found in a cohort of Italian patients with argininosuccinic aciduria PMID: 17326097
19. analysis of human missense argininosuccinate lyase mutations in yeast PMID: 19703900

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HGNC: 746

OMIM: 207900

KEGG: hsa:435

STRING: 9606.ENSP00000307188

UniGene: Hs.632015