Nathalie Da Silva

Early endosome disturbance and endolysosomal pathway dysfunction in Duchenne muscular dystrophy

This study identifies endosomal pathway dysfunction in DMD muscle cells and shows that Rab5 upregulation contributes to endosomal defects, which can be mitigated by Rab5 knock-down or dystrophin restoration.

Altered action potential waveform and shorter axonal initial segment in hiPSC-derived motor neurons with mutations in VRK1

The paper investigates hiPSC-derived motor neurons with VRK1 mutations, finding altered action potential waveforms and shorter axonal initial segments, suggesting a link to motor neuron disease.

Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay

The paper systematically assesses the splicing impact of deep exonic missense variants in CAPN3 using minigene assays, revealing that eight variants disrupt splicing and highlight limitations in current computational tools.