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the mechanism induced by ASL (show ADSL ELISA Kits) shRNA which occurred in human breast cancer may be attributed to a decrease in cyclin A2 (show CCNA2 ELISA Kits) and NO.
The clinical and biochemical course in variant forms of ASL (show ADSL ELISA Kits) deficiency is associated with relevant residual levels of ASL (show ADSL ELISA Kits) activity as well as instability of mutant ASL (show ADSL ELISA Kits) proteins.
Point mutation of ASS1 (show ASS1 ELISA Kits), ASL (show ADSL ELISA Kits) and SLC25A13 (show slc25a13 ELISA Kits) is associated with citrullinemia (show ASS1 ELISA Kits).
Data show that in patients with Argininosuccinate lyase deficiency, the ASl (show ADSL ELISA Kits) gene is subject to several mutations, the majority are missense; some more frequent then others.
Our results suggest that ASL (show ADSL ELISA Kits) transcripts can contribute to the highly variable phenotype in ASA (show ARSA ELISA Kits) patients if expressed at high levels.
Cox (show COX8A ELISA Kits) regression analysis showed that ASL (show ADSL ELISA Kits) is an independent prognostic marker for HCC (show FAM126A ELISA Kits). Therefore, reduced ASL (show ADSL ELISA Kits) expression may be a novel maker for poor prognosis in HCC (show FAM126A ELISA Kits) patients
analysis of mutant argininosuccinate lyase in argininosuccinic aciduria
extent of protection of ASL (show ADSL ELISA Kits) and delta-crystallin at different ratios of alphaA-crystallin (show CRYAA ELISA Kits)
MDR analysis provided evidence of interaction between the genes for ASS1 (show ASS1 ELISA Kits) and SLC25A13 (show slc25a13 ELISA Kits) on the risk of CL/P.
Structural studies of the ASL (show ADSL ELISA Kits) 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.
Enterocyte-derived ASL (show ADSL ELISA Kits) 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.
, delta crystallin II
, delta-2 crystallin