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