The CRISPR-Cas9 crADSL HeLa transcriptome: A first step in establishing a model for ADSL deficiency and SAICAR accumulation

Adenylosuccinate lyase (ADSL) catalyzes two steps in de novo purine synthesis (DNPS). Mutations in ADSL can result in inborn errors of metabolism characterized by developmental delay and disorder phenotypes, with no effective treatment options. Recently, SAICAR, a metabolic substrate of ADSL, has be...

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Detalles Bibliográficos
Autores principales: Mazzarino, Randall C., Baresova, Veronika, Zikánová, Marie, Duval, Nathan, Wilkinson, Terry G., Patterson, David, Vacano, Guido N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2019
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6731210/
https://www.ncbi.nlm.nih.gov/pubmed/31516833
http://dx.doi.org/10.1016/j.ymgmr.2019.100512

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