Katarzyna Chwalenia

Toward a model of uORF-mediated translational control: An integrated bioinformatic and experimental approach

The paper combines experimental and computational methods to model how uORFs regulate translation, identifying key features and interactions that influence their repressive activity.

Myonuclear domain-associated and central nucleation-dependent spatial restriction of dystrophin protein expression in a novel DMD mouse model

This paper introduces a novel DMD mouse model with non-uniform dystrophin expression and shows that partial dystrophin expression protects against muscle pathology.

Non-uniform dystrophin re-expression after CRISPR-mediated exon excision in the dystrophin/utrophin double-knockout mouse model of DMD

This study uses CRISPR to excise exon 23 in dKO mice, achieving partial dystrophin restoration but with limited efficacy and challenges in DNA repair.

PPMO-mediated exon skipping induces uniform sarcolemmal dystrophin rescue with dose-dependent restoration of circulating microRNA biomarkers and muscle biophysical properties

This study shows that PPMO-mediated exon skipping in mdx mice restores uniform dystrophin expression and dose-dependently improves serum microRNA biomarkers and muscle biophysical properties.