Associated Papers
Utility of AlphaMissense predictions in Asparagine Synthetase deficiency variant classification.
Staklinski SJ et al.
Biorxiv : the Preprint Server for Biology, 2023
A method for measurement of human asparagine synthetase (ASNS) activity and application to ASNS protein variants associated with ASNS deficiency.
Chang MC et al.
Biology Methods & Protocols, 2023
Cellular and molecular characterization of two novel asparagine synthetase gene mutations linked to asparagine synthetase deficiency.
Staklinski SJ et al.
The Journal of Biological Chemistry, 2022
A novel compound heterozygous missense mutation in ASNS broadens the spectrum of asparagine synthetase deficiency.
Wang C et al.
Molecular Genetics & Genomic Medicine, 2020
Molecular diagnosis of asparagine synthetase (ASNS) deficiency in two Indian families and literature review of 29 ASNS deficient cases.
Radha Rama Devi A et al.
Gene, 2019
Clinical outcomes of two patients with a novel pathogenic variant in ASNS: response to asparagine supplementation and review of the literature.
Sprute R et al.
Human Genome Variation, 2019
Novel Mutations in the Asparagine Synthetase Gene (ASNS) Associated With Microcephaly.
Schleinitz D et al.
Frontiers in Genetics, 2018
Asparagine synthetase: Function, structure, and role in disease.
Lomelino CL et al.
The Journal of Biological Chemistry, 2017
Asparagine Synthetase deficiency-report of a novel mutation and review of literature.
Gupta N et al.
Metabolic Brain Disease, 2017
The first report of Japanese patients with asparagine synthetase deficiency.
Yamamoto T et al.
Brain & Development, 2017
Diaphragmatic Eventration in Sisters with Asparagine Synthetase Deficiency: A Novel Homozygous ASNS Mutation and Expanded Phenotype.
Sun J et al.
Jimd Reports, 2017
Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine.
Palmer EE et al.
Molecular Genetics and Metabolism, 2015
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