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Cellular and molecular characterization of two novel asparagine synthetase gene mutations linked to asparagine synthetase deficiency

Asparagine synthetase (ASNS) catalyzes synthesis of asparagine (Asn) and Glu from Asp and Gln in an ATP-dependent reaction. Asparagine synthetase deficiency (ASNSD) results from biallelic mutations in the ASNS gene. Affected children exhibit congenital microcephaly, continued brain atrophy, seizures...

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Detalles Bibliográficos
Autores principales:	Staklinski, Stephen J., Chang, Mario C., Yu, Fang, Collins Ruff, Kathleen, Franz, David N., Qian, Zhijian, Bloom, Linda B., Merritt, Matthew E., McKenna, Robert, Kilberg, Michael S.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	American Society for Biochemistry and Molecular Biology 2022
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9478401/ https://www.ncbi.nlm.nih.gov/pubmed/35985424 http://dx.doi.org/10.1016/j.jbc.2022.102385

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