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A method for measurement of human asparagine synthetase (ASNS) activity and application to ASNS protein variants associated with ASNS deficiency

Human asparagine synthetase (ASNS) catalyzes the conversion of aspartate to asparagine in an ATP-dependent reaction that utilizes glutamine as a nitrogen source while generating glutamate, AMP, and pyrophosphate as additional products. Asparagine Synthetase Deficiency (ASNSD) is an inborn error of m...

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Detalles Bibliográficos
Autores principales: Chang, Mario C, Staklinski, Stephen J, Merritt, Matthew E, Kilberg, Michael S
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10641120/
https://www.ncbi.nlm.nih.gov/pubmed/37965492
http://dx.doi.org/10.1093/biomethods/bpad026