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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...
Autores principales: | Chang, Mario C, Staklinski, Stephen J, Merritt, Matthew E, Kilberg, Michael S |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2023
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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 |
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