PRPS-Associated Disorders and the Drosophila Model of Arts Syndrome.

ABSTRACT: While a plethora of genetic techniques have been developed over the past century, modifying specific sequences of the fruit fly genome has been a difficult, if not impossible task. clustered regularly interspaced short palindromic repeat (CRISPR)/Cas9 truly redefined molecular genetics and provided new tools to model human diseases in Drosophila melanogaster. This is particularly true for genes whose protein sequences are highly conserved. Phosphoribosyl pyrophosphate synthetase (PRPS) is a rate-limiting enzyme in nucleotide metabolism whose missense mutations are found in several neurological disorders, including Arts syndrome. In addition, PRPS is deregulated in cancer, particularly those that become resistant to cancer therapy. Notably, DrosophilaPRPS shares about 90% protein sequence i

SUBMITTER: Delos Santos K 

PROVIDER: S-EPMC7403961 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature