Article

Patient-derived <i>phosphoribosyl pyrophosphate synthetase</i> mutations in <i>Drosophila</i> result in autophagy and lysosome dysfunction

2018-10-09

Abstract excerpt

Phosphoribosyl pyrophosphate synthetase (PRPS) is a rate-limiting enzyme in nucleotide metabolism. While missense mutations of PRPS1 have been identified in neurological disorders such as Arts syndrome, little is known on how they contribute to pathogenesis. We engineered Drosophila PRPS ( dPRPS ) alleles that carry patient-derived PRPS missense mutations. Although dPRPS mutant flies develop normally, they hav...

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Literature Corpus work: 7288b1a1-2d75-537f-982d-968f6ec699f8
DOI: 10.1101/438747

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