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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Detalhes bibliográficos
Publicado no:Mol Genet Metab Rep
Main Authors: Mazzarino, Randall C., Baresova, Veronika, Zikánová, Marie, Duval, Nathan, Wilkinson, Terry G., Patterson, David, Vacano, Guido N.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2019
Assuntos:
Research Paper
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6731210/
https://ncbi.nlm.nih.gov/pubmed/31516833
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2019.100512
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