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
A live bacteria enzyme assay for identification of human disease mutations and drug screening.
Choe D et al.
Nature Biomedical Engineering, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 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
The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria.
Gurung S et al.
Journal of Inherited Metabolic Disease, 2024
mRNA therapy corrects defective glutathione metabolism and restores ureagenesis in preclinical argininosuccinic aciduria.
Gurung S et al.
Science Translational Medicine, 2024
Late-onset argininosuccinic aciduria in a 72-year-old man presenting with fatal hyperammonemia.
Leuger L et al.
Jimd Reports, 2021
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N et al.
Human Mutation, 2021
Nitric oxide modulates bone anabolism through regulation of osteoblast glycolysis and differentiation.
Jin Z et al.
The Journal of Clinical Investigation, 2021
From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria.
Zielonka M et al.
Human Mutation, 2020
Chronic liver disease and impaired hepatic glycogen metabolism in argininosuccinate lyase deficiency.
Burrage LC et al.
Jci Insight, 2020
Argininosuccinate neurotoxicity and prevention by creatine in argininosuccinate lyase deficiency: An in vitro study in rat three-dimensional organotypic brain cell cultures.
Diez-Fernandez C et al.
Journal of Inherited Metabolic Disease, 2019
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
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
Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria.
Hu L et al.
Journal of Inherited Metabolic Disease, 2015
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene.
Balmer C et al.
Human Mutation, 2014
Yeast complementation is sufficiently sensitive to detect the residual activity of ASL alleles associated with mild forms of argininosuccinic aciduria.
Doimo M et al.
Journal of Inherited Metabolic Disease, 2012
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
Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families.
Kleijer WJ et al.
Journal of Inherited Metabolic Disease, 2002
Three-dimensional structure of the argininosuccinate lyase frequently complementing allele Q286R.
Sampaleanu LM et al.
Biochemistry, 2001
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
Two novel mutations (E86A, R113W) in argininosuccinate lyase deficiency and evidence for highly variable splicing of the human argininosuccinate lyase gene.
Linnebank M et al.
Journal of Inherited Metabolic Disease, 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
Crystal structure of an inactive duck delta II crystallin mutant with bound argininosuccinate.
Vallée F et al.
Biochemistry, 1999
His68 and His141 are critical contributors to the intersubunit catalytic site of adenylosuccinate lyase of Bacillus subtilis.
Lee TT et al.
Biochemistry, 1999
Intragenic complementation at the argininosuccinate lyase locus: reconstruction of the active site.
Howell PL et al.
Journal of Inherited Metabolic Disease, 1998
Human argininosuccinate lyase: a structural basis for intragenic complementation.
Turner MA et al.
Proceedings of the National Academy of Sciences of the United States of America, 1997
Intragenic complementation at the human argininosuccinate lyase locus. Identification of the major complementing alleles.
Walker DC et al.
The Journal of Biological Chemistry, 1997
Analysis of naturally occurring and site-directed mutations in the argininosuccinate lyase gene.
Barbosa P et al.
The Journal of Biological Chemistry, 1991