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The remaining five patients were diagnosed with neonatal intrahepatic cholestasis due to citrin (show slc25a13 Proteins) deficiency, and have respectively carried mutations of the SLC25A13 (show slc25a13 Proteins) 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 Proteins) may be a contributing factor in drug resistance for arginine deprivation therapy.
ASL (show ADSL Proteins)-targeting shRNA-induced growth inhibition is associated with decreased cyclin A2 (show CCNA2 Proteins) expression and Nitric oxide content in colon cancer.
the mechanism induced by ASL (show ADSL Proteins) shRNA which occurred in human breast cancer may be attributed to a decrease in cyclin A2 (show CCNA2 Proteins) and NO.
The clinical and biochemical course in variant forms of ASL (show ADSL Proteins) deficiency is associated with relevant residual levels of ASL (show ADSL Proteins) activity as well as instability of mutant ASL (show ADSL Proteins) proteins.
Point mutation of ASS1 (show ASS1 Proteins), ASL (show ADSL Proteins) and SLC25A13 (show slc25a13 Proteins) is associated with citrullinemia (show ASS1 Proteins).
Data show that in patients with Argininosuccinate lyase deficiency, the ASl (show ADSL Proteins) gene is subject to several mutations, the majority are missense; some more frequent then others.
Our results suggest that ASL (show ADSL Proteins) transcripts can contribute to the highly variable phenotype in ASA (show ARSA Proteins) patients if expressed at high levels.
Cox (show COX8A Proteins) regression analysis showed that ASL (show ADSL Proteins) is an independent prognostic marker for HCC (show FAM126A Proteins). Therefore, reduced ASL (show ADSL Proteins) expression may be a novel maker for poor prognosis in HCC (show FAM126A Proteins) patients
analysis of mutant argininosuccinate lyase in argininosuccinic aciduria
Enterocyte-derived ASL (show ADSL Proteins) 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