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Cow (Bovine) Polyclonal ASL Primary Antibody pour WB - ABIN2776928
Tanaka, Nagao, Mori, Tsutsumi: A novel stop codon mutation (X465Y) in the argininosuccinate lyase gene in a patient with argininosuccinic aciduria. dans The Tohoku journal of experimental medicine 2003
Show all 2 Pubmed References
Cow (Bovine) Polyclonal ASL Primary Antibody pour 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. dans Human mutation 2007
Human Monoclonal ASL Primary Antibody pour 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. dans Cell death & disease 2013
The remaining five patients were diagnosed with neonatal intrahepatic cholestasis due to citrin (Montrer slc25a13 Anticorps) deficiency, and have respectively carried mutations of the SLC25A13 (Montrer slc25a13 Anticorps) 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 (Montrer ADSL Anticorps) may be a contributing factor in drug resistance for arginine deprivation therapy.
ASL (Montrer ADSL Anticorps)-targeting shRNA-induced growth inhibition is associated with decreased cyclin A2 (Montrer CCNA2 Anticorps) expression and Nitric oxide content in colon cancer.
the mechanism induced by ASL (Montrer ADSL Anticorps) shRNA which occurred in human breast cancer may be attributed to a decrease in cyclin A2 (Montrer CCNA2 Anticorps) and NO.
The clinical and biochemical course in variant forms of ASL (Montrer ADSL Anticorps) deficiency is associated with relevant residual levels of ASL (Montrer ADSL Anticorps) activity as well as instability of mutant ASL (Montrer ADSL Anticorps) proteins.
Point mutation of ASS1 (Montrer ASS1 Anticorps), ASL (Montrer ADSL Anticorps) and SLC25A13 (Montrer slc25a13 Anticorps) is associated with citrullinemia (Montrer ASS1 Anticorps).
Data show that in patients with Argininosuccinate lyase deficiency, the ASl (Montrer ADSL Anticorps) gene is subject to several mutations, the majority are missense; some more frequent then others.
Our results suggest that ASL (Montrer ADSL Anticorps) transcripts can contribute to the highly variable phenotype in ASA (Montrer ARSA Anticorps) patients if expressed at high levels.
Cox (Montrer COX8A Anticorps) regression analysis showed that ASL (Montrer ADSL Anticorps) is an independent prognostic marker for HCC (Montrer FAM126A Anticorps). Therefore, reduced ASL (Montrer ADSL Anticorps) expression may be a novel maker for poor prognosis in HCC (Montrer FAM126A Anticorps) patients
analysis of mutant argininosuccinate lyase in argininosuccinic aciduria
Enterocyte-derived ASL (Montrer ADSL Anticorps) 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