Pedro Silva-Pinheiro

Development of the Mitochondrial Base Editor Analysis Package (MitoBEAP).

The paper introduces MitoBEAP, an R package for analysing next-generation sequencing data from mitochondrial base-edited samples to assess off-target effects.

Mitochondrial adenine base editing of mouse somatic tissues via adeno-associated viral delivery

This study tests mitochondrial adenine base editing in mouse tissues via AAV delivery, finding low and modestly increasing editing efficiency over time.

In vivo and in vitro mechanistic characterization of a clinically relevant PolγA mutation

This study characterizes the molecular pathogenesis of a POLG mutation by showing how it impairs POLγA function and leads to mtDNA instability through LONP1-dependent degradation.