Article
CRISPR-Cas9 induced mutations along de novo purine synthesis in HeLa cells result in accumulation of individual enzyme substrates and affect purinosome formation.
Molecular genetics and metabolism - 1 Nov 2016
Baresova Veronika, Krijt Matyas, Skopova Vaclava, Souckova Olga, Kmoch Stanislav, Zikanova Marie
Abstract excerpt
Purines are essential molecules for nucleic acid synthesis and are the most common carriers of chemical energy in all living organisms. The cellular pool of purines is maintained by the balance between their de novo synthesis (DNPS), recycling and degradation. DNPS includes ten reactions catalysed by six enzymes. To date, two genetically determined disorders of DNPS enzymes have been described, and the existence...
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