GeneticsNAR Molecular MedicinePeer-reviewed
Pathological PNPase variants with altered RNA binding and degradation activity affect the phenotype of bacterial and human cell models
Roberto Pizzoccheri, Federica A. Falchi, Andrea Alloni…·Federica Briani
The paper investigates the effects of four PNPT1 mutations on PNPase function in bacterial and human models, finding that mutation severity does not correlate with catalytic activity.
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