# First person – Arístides López-Márquez

PMC · DOI: 10.1242/dmm.052771 · Disease Models & Mechanisms · 2026-01-22

## TL;DR

Arístides López-Márquez discusses his research on using gene editing to treat rare muscular dystrophies in a Disease Models & Mechanisms interview.

## Contribution

The development of Col6a1 knock-in mice as a pre-clinical model for collagen-VI-related dystrophies.

## Key findings

- Col6a1 knock-in mice are a promising model for collagen-VI-related dystrophies.
- The model supports advanced personalized therapies like gene editing and antisense oligonucleotides.

## Abstract

First Person is a series of interviews with the first authors of a selection of papers published in Disease Models & Mechanisms, helping researchers promote themselves alongside their papers. Arístides López-Márquez is first author on ‘
Col6a1 knock-in mice provide a promising pre-clinical model for collagen-VI-related dystrophies’, published in DMM. Arístides is a senior postdoctoral researcher in the lab of Cecilia Jiménez-Mallebrera at Sant Joan de Deu Research Institute (Barcelona, Spain) investigating advanced personalized therapies based on nucleic acids, such as gene editing or antisense oligonucleotides, for congenital muscular dystrophies and rare genetic diseases.

## Linked entities

- **Genes:** COL6A1 (collagen type VI alpha 1 chain) [NCBI Gene 1291]
- **Species:** Mus musculus (taxon 10090)

## Full text

_Full body text omitted from this summary view._ Fetch the complete paper as Markdown: https://tomesphere.com/paper/PMC12869491/full.md

## Figures

2 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12869491/full.md

## References

1 references — full list in the complete paper: https://tomesphere.com/paper/PMC12869491/full.md

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Source: https://tomesphere.com/paper/PMC12869491