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...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:Mol Genet Metab Rep
Hlavní autoři: Mazzarino, Randall C., Baresova, Veronika, Zikánová, Marie, Duval, Nathan, Wilkinson, Terry G., Patterson, David, Vacano, Guido N.
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2019
Témata:
Research Paper
On-line přístup: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
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky