Virginia Arechavala‐Gomeza

This paper develops a cell-based platform to quantify DMPK and MBNL1 in DM1 models and evaluates therapeutic strategies targeting DMPK.

This paper introduces a method called collablot to quantify collagen VI levels and structural disorganisation in cell cultures from patients with collagen VI-related dystrophies, showing its effectiveness in detecting treatment effects and structural changes.

The paper restores dystrophin expression in DMD cells by replicating a specific exon deletion and creates a new cell model to study the mutation's effects.

The paper describes CRISPR/Cas9-generated Duchenne muscular dystrophy cell models for drug screening, showing successful exon deletion and utrophin upregulation.