Associated Papers
Predicting epistasis across proteins by structural logic.
Tang M et al.
Proceedings of the National Academy of Sciences of the United States of America, 2026
Clinical, biochemical and genetic characteristics of patients with argininosuccinate lyase deficiency from a single center cohort in China.
Zhang K et al.
Orphanet Journal of Rare Diseases, 2025
Positive Clinical, Neuropsychological, and Metabolic Impact of Liver Transplantation in Patients With Argininosuccinate Lyase Deficiency.
Siri B et al.
Journal of Inherited Metabolic Disease, 2025
Late-onset argininosuccinic aciduria in a 72-year-old man presenting with fatal hyperammonemia.
Leuger L et al.
Jimd Reports, 2021
From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria.
Zielonka M et al.
Human Mutation, 2020
Urea cycle disorders in Argentine patients: clinical presentation, biochemical and genetic findings.
Silvera-Ruiz SM et al.
Orphanet Journal of Rare Diseases, 2019
Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing.
Bijarnia-Mahay S et al.
Orphanet Journal of Rare Diseases, 2018
Low prevalence of argininosuccinate lyase deficiency among inherited urea cycle disorders in Korea.
Kim D et al.
Journal of Human Genetics, 2018
Argininosuccinate lyase interacts with cyclin A2 in cytoplasm and modulates growth of liver tumor cells.
Hung YH et al.
Oncology Reports, 2017
Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria.
Hu L et al.
Journal of Inherited Metabolic Disease, 2015
Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene.
Balmer C et al.
Human Mutation, 2014
Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria.
Engel K et al.
Journal of Inherited Metabolic Disease, 2012
Functional complementation in yeast allows molecular characterization of missense argininosuccinate lyase mutations.
Trevisson E et al.
The Journal of Biological Chemistry, 2009
Living related liver transplant in a patient with argininosuccinic aciduria and cirrhosis: metabolic follow-up.
Marble M et al.
Journal of Pediatric Gastroenterology and Nutrition, 2008
Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene.
Trevisson E et al.
Human Mutation, 2007
Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene.
Linnebank M et al.
Human Genetics, 2002
Mechanisms for intragenic complementation at the human argininosuccinate lyase locus.
Yu B et al.
Biochemistry, 2001
Intragenic complementation and the structure and function of argininosuccinate lyase.
Yu B et al.
Cellular and Molecular Life Sciences : Cmls, 2000
Domain exchange experiments in duck delta-crystallins: functional and evolutionary implications.
Sampaleanu LM et al.
Protein Science : a Publication of the Protein Society, 1999
Intragenic complementation at the argininosuccinate lyase locus: reconstruction of the active site.
Howell PL et al.
Journal of Inherited Metabolic Disease, 1998
Intragenic complementation at the human argininosuccinate lyase locus. Identification of the major complementing alleles.
Walker DC et al.
The Journal of Biological Chemistry, 1997