Michal A. Minczuk

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

This study shows that an inherited mtDNA mutation alters inflammatory cytokine responses in macrophages and in vivo, leading to increased IFN-I and reduced pro-inflammatory cytokines.

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

This study identifies a late-stage quality control step in human mitochondrial ribosome large subunit assembly, showing that MRM2 ablation impairs oxidative phosphorylation through defective translation and accumulation of assembly intermediates.

This study identifies YbeY as essential for mitochondrial ribosome small subunit assembly and tRNA processing, showing its dual role in coupling these processes.

The paper identifies a metabolic shift involving amino acid availability and mitochondrial biogenesis as the mechanism underlying recovery in reversible infantile respiratory chain deficiency.

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.

The paper identifies TRMT2B as the enzyme responsible for m5U modification in both mitochondrial tRNAs and rRNAs in human cells, showing it is not essential for viability.

This study identifies novel ELAC2 variants linked to hypertrophic cardiomyopathy and mitochondrial dysfunction, confirms their pathogenicity through in vitro analysis, and links one variant to prostate cancer.