Analysis of Enzyme Activity and Cellular Function for the N80S and S480F Asparagine Synthetase Variants Expressed in a Child with Asparagine Synthetase Deficiency

Asparagine Synthetase Deficiency (ASNSD) is a disease caused by mutations in asparagine synthetase (ASNS). Newborns exhibit microcephaly, intractable epileptic-like seizures, progressive brain atrophy, and axial hypotonia. ASNSD results in global developmental delays and premature death. The present...

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Detalles Bibliográficos
Autores principales: Staklinski, Stephen J., Snanoudj, Sarah, Guerrot, Anne-Marie, Vanhulle, Catherine, Lecoquierre, François, Bekri, Soumeya, Kilberg, Michael S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9820069/
https://www.ncbi.nlm.nih.gov/pubmed/36613999
http://dx.doi.org/10.3390/ijms24010559

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9820069/
https://www.ncbi.nlm.nih.gov/pubmed/36613999
http://dx.doi.org/10.3390/ijms24010559

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