In vitro functional analysis of four variants of human asparagine synthetase-Reference-Cited by-同舟云学术

In vitro functional analysis of four variants of human asparagine synthetase

Published:2021-06-09 Issue:5 Volume:44 Page:1226-1234
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:Jrnl of Inher Metab Disea

Author:

Matsumoto Hideki¹^ORCID,Kawashima Nana²,Yamamoto Takahiro¹³,Nakama Mina⁴,Otsuka Hiroki¹⁴,Ago Yasuhiko¹,Sasai Hideo¹⁴^ORCID,Kubota Kazuo¹³⁴,Ozeki Michio¹,Kawamoto Norio¹,Esaka Yukihiro²,Ohnishi Hidenori¹³⁴

Affiliation:

1. Department of Pediatrics Graduate School of Medicine, Gifu University Gifu Japan

2. Laboratory of Pharmaceutical Analytical Chemistry Gifu Pharmaceutical University Gifu Japan

3. Educational Support Center for Pediatric Home‐Based Medical Care, Graduate School of Medicine, Gifu University Gifu Japan

4. Clinical Genetics Center, Gifu University Hospital Gifu Japan

Funder

Japan Agency for Medical Research and Development

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12408

Reference22 articles.

1. Kinetic studies of asparagine synthetase from rat liver: Role of Mg2+ in enzyme catalysis

2. Analysis of the Human Tissue-specific Expression by Genome-wide Integration of Transcriptomics and Antibody-based Proteomics

3. Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy

4. Asparagine synthetase: Function, structure, and role in disease

5. Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine

Cited by 8 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Advances in human glutamine-hydrolyzing synthetases and their therapeutic potential;Frontiers in Chemical Biology;2024-06-06

2. Utility of AlphaMissense predictions in Asparagine Synthetase deficiency variant classification;2023-11-02

3. Ketogenic diet-responsive drug-resistant epilepsy in a case of asparagine synthetase deficiency with a novel compound heterozygous missense variant;Clinical Neurology and Neurosurgery;2023-07

4. Metabolomic Profiling of Asparagine Deprivation in Asparagine Synthetase Deficiency Patient-Derived Cells;Nutrients;2023-04-18

5. Characterizing asparagine synthetase deficiency variants in lymphoblastoid cell lines;JIMD Reports;2023-01-05