Associated Papers
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
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
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
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
Select a paper to view details