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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Bibliographic Details

Published in:	Molecular Genetics and Metabolism Reports
Main Authors:	Randall C. Mazzarino, Veronika Baresova, Marie Zikánová, Nathan Duval, Terry G. Wilkinson, II, David Patterson, Guido N. Vacano
Format:	Article
Language:	English
Published:	Elsevier 2019-12-01
Online Access:	http://www.sciencedirect.com/science/article/pii/S2214426919300989