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Cow (Bovine) Polyclonal ASL Primary Antibody for WB - ABIN2776928
Tanaka, Nagao, Mori, Tsutsumi: A novel stop codon mutation (X465Y) in the argininosuccinate lyase gene in a patient with argininosuccinic aciduria. in The Tohoku journal of experimental medicine 2003
Show all 2 Pubmed References
Human Monoclonal ASL Primary Antibody for IF, ELISA - ABIN559965
Syed, Langer, Janczar, Singh, Lo Nigro, Lattanzio, Coley, Hatzimichael, Bomalaski, Szlosarek, Awad, ONeil, Roncaroli, Crook: Epigenetic status of argininosuccinate synthetase and argininosuccinate lyase modulates autophagy and cell death in glioblastoma. in Cell death & disease 2013
Cow (Bovine) Polyclonal ASL Primary Antibody for WB - ABIN2776927
Trevisson, Salviati, Baldoin, Toldo, Casarin, Sacconi, Cesaro, Basso, Burlina: Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene. in Human mutation 2007
The remaining five patients were diagnosed with neonatal intrahepatic cholestasis due to citrin (show slc25a13 Antibodies) deficiency, and have respectively carried mutations of the SLC25A13 (show slc25a13 Antibodies) 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]
Overexpression of ASL (show ADSL Antibodies) may be a contributing factor in drug resistance for arginine deprivation therapy.
ASL (show ADSL Antibodies)-targeting shRNA-induced growth inhibition is associated with decreased cyclin A2 (show CCNA2 Antibodies) expression and Nitric oxide content in colon cancer.
the mechanism induced by ASL (show ADSL Antibodies) shRNA which occurred in human breast cancer may be attributed to a decrease in cyclin A2 (show CCNA2 Antibodies) and NO.
The clinical and biochemical course in variant forms of ASL (show ADSL Antibodies) deficiency is associated with relevant residual levels of ASL (show ADSL Antibodies) activity as well as instability of mutant ASL (show ADSL Antibodies) proteins.
Point mutation of ASS1 (show ASS1 Antibodies), ASL (show ADSL Antibodies) and SLC25A13 (show slc25a13 Antibodies) is associated with citrullinemia (show ASS1 Antibodies).
Data show that in patients with Argininosuccinate lyase deficiency, the ASl (show ADSL Antibodies) gene is subject to several mutations, the majority are missense; some more frequent then others.
Our results suggest that ASL (show ADSL Antibodies) transcripts can contribute to the highly variable phenotype in ASA (show ARSA Antibodies) patients if expressed at high levels.
Cox (show COX8A Antibodies) regression analysis showed that ASL (show ADSL Antibodies) is an independent prognostic marker for HCC (show FAM126A Antibodies). Therefore, reduced ASL (show ADSL Antibodies) expression may be a novel maker for poor prognosis in HCC (show FAM126A Antibodies) patients
analysis of mutant argininosuccinate lyase in argininosuccinic aciduria
Enterocyte-derived ASL (show ADSL Antibodies) has a protective role in necrotizing enterocolitis.
This gene encodes a member of the lyase 1 family. The encoded protein forms a cytosolic homotetramer and primarily catalyzes the reversible hydrolytic cleavage of argininosuccinate into arginine and fumarate, an essential step in the liver in detoxifying ammonia via the urea cycle. Mutations in this gene result in the autosomal recessive disorder argininosuccinic aciduria, or argininosuccinic acid lyase deficiency. A nontranscribed pseudogene is also located on the long arm of chromosome 22. Alternatively spliced transcript variants encoding different isoforms have been described.
, argininosuccinate lyase