Associated Papers
To B(enign) or Not to B: functionalisation of variant in a mild form of argininosuccinate lyase deficiency identified through newborn screening.
Heng TYJ et al.
Clinical Dysmorphology, 2024
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
36335097 (PubMed )
Supplement: 41467_2022_34116_MOESM4_ESM.zip › NCOMMS-22-14716A_SupplementaryData › NCOMM-22-14716A_SupplementaryData_2.xlsx › SuppData_2
Cysteamine revisited: repair of arginine to cysteine mutations.
Gallego-Villar L et al.
Journal of Inherited Metabolic Disease, 2017
Effect of Cysteamine on Mutant ASL Proteins with Cysteine for Arginine Substitutions.
Inauen C et al.
Molecular Diagnosis & Therapy, 2016
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
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
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
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
Molecular analysis of human argininosuccinate lyase: mutant characterization and alternative splicing of the coding region.
Walker DC et al.
Proceedings of the National Academy of Sciences of the United States of America, 1990
Select a paper to view details