Joanna Poulton

NanoDel detects large-scale mitochondrial DNA deletions using long-read sequencing, showing improved sensitivity and accuracy over existing methods.

This study shows that butyrate supplementation improves health and extends lifespan in mice with mitochondrial dysfunction by restoring intestinal barrier function and epigenetic marks.

This study shows mitochondrial heteroplasmy impairs osteoclast differentiation and bone resorption by disrupting respiratory complex I and autophagy, and identifies spermidine as a potential therapeutic.

The paper investigates how mitochondrial function affects ALS severity but not risk, identifying specific genetic and expression factors linked to disease progression.

This paper introduces dasper, an R/Bioconductor package that detects pathogenic splicing events from RNA-sequencing data with higher accuracy than existing methods.

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 shows that ADLL and its enantiomer ALL slow disease progression in lysosomal storage disorders through mechanisms involving glucose and antioxidant metabolism.