Arístides López‐Márquez

Generation and Characterization of Col6a1 knock-in mice: A Promising Pre-Clinical Model for Collagen VI-Related Dystrophies

The paper generates and characterizes the first mouse model with a dominant-negative glycine substitution in collagen VI alpha chains, showing key disease features for therapeutic research.

Collablots: Quantification of collagen VI levels and its structural disorganisation in cell cultures from patients with collagen VI-related dystrophies

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.

Nanomechanics of cell-derived matrices as a functional read-out in Collagen VI-related Congenital Muscular Dystrophies

This study uses AFM-FS to analyze nanomechanical properties of cell-derived matrices from COL6-RD patients, showing differences in elastic modulus and potential for gene therapy response assessment.