Characterizing asparagine synthetase deficiency variants in lymphoblastoid cell lines

Characterizing asparagine synthetase deficiency variants in lymphoblastoid cell lines

Abstract Asparagine synthetase (ASNS) catalyzes the synthesis of asparagine (Asn) from aspartate and glutamine. Biallelic mutations in the ASNS gene result in ASNS Deficiency (ASNSD). Children with ASNSD exhibit congenital microcephaly, epileptic‐like seizures, and continued brain atrophy, often lea...

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Bibliographic Details
Main Authors: Stephen J. Staklinski, Mario C. Chang, Rebecca C. Ahrens‐Nicklas, Shagun Kaur, Arianna K. Stefanatos, Elizabeth E. Dudenhausen, Matthew E. Merritt, Michael S. Kilberg
Format: Article
Language:English
Published: Wiley 2023-03-01
Series:JIMD Reports
Subjects:
amino acids
epilepsy
inborn errors
metabolism
microcephaly
Online Access:https://doi.org/10.1002/jmd2.12356

Internet

https://doi.org/10.1002/jmd2.12356

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