Characterizing asparagine synthetase deficiency variants in lymphoblastoid cell lines

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 leading to p...

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Detalles Bibliográficos
Autores principales: Staklinski, Stephen J., Chang, Mario C., Ahrens‐Nicklas, Rebecca C., Kaur, Shagun, Stefanatos, Arianna K., Dudenhausen, Elizabeth E., Merritt, Matthew E., Kilberg, Michael S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2023
Materias:
Research Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9981421/
https://www.ncbi.nlm.nih.gov/pubmed/36873094
http://dx.doi.org/10.1002/jmd2.12356

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