Aristides Marquez-Lopez

Barcelona, CT 08028, Spain

Last Updated: 09/26/2026

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Found 19 publications

Col6a1 knock-in mice provide a promising pre-clinical model for collagen VI-related dystrophies.

Col6a1 knock-in mice provide a promising pre-clinical model for collagen VI-related dystrophies.

Journal: Disease models & mechanisms

Published: April 30, 2025

Nanomechanics of cell-derived matrices as a functional read-out in collagen VI-related congenital muscular dystrophies.

Nanomechanics of cell-derived matrices as a functional read-out in collagen VI-related congenital muscular dystrophies.

Journal: Journal of the Royal Society, Interface

Published: March 12, 2025

Advanced delivery systems for gene editing: A comprehensive review from the GenE-HumDi COST Action Working Group.

Advanced delivery systems for gene editing: A comprehensive review from the GenE-HumDi COST Action Working Group.

Journal: Molecular therapy. Nucleic acids

Published: February 24, 2025

Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases.

Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases.

Journal: Annals of clinical and translational neurology

Published: February 05, 2025

Collablots: Quantification of Collagen VI Levels and Its Structural Disorganisation in Cell Cultures From Patients With Collagen VI-Related Dystrophies.

Collablots: Quantification of Collagen VI Levels and Its Structural Disorganisation in Cell Cultures From Patients With Collagen VI-Related Dystrophies.

Journal: Neuropathology and applied neurobiology

Published: December 06, 2024

PAH deficient pathology in humanized c.1066-11G>A phenylketonuria mice.

PAH deficient pathology in humanized c.1066-11G>A phenylketonuria mice.

Journal: Human molecular genetics

Published: December 26, 2023

The Capillary Morphogenesis Gene 2 Triggers the Intracellular Hallmarks of Collagen VI-Related Muscular Dystrophy.

The Capillary Morphogenesis Gene 2 Triggers the Intracellular Hallmarks of Collagen VI-Related Muscular Dystrophy.

Journal: International journal of molecular sciences

Published: June 15, 2022

CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant COL6A1 Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts.

CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant COL6A1 Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts.

Journal: International journal of molecular sciences

Published: March 02, 2022

Modeling Splicing Variants Amenable to Antisense Therapy by Use of CRISPR-Cas9-Based Gene Editing in HepG2 Cells.

Modeling Splicing Variants Amenable to Antisense Therapy by Use of CRISPR-Cas9-Based Gene Editing in HepG2 Cells.

Journal: Methods in molecular biology (Clifton, N.J.)

Published: February 25, 2022

Personalized in vitro Extracellular Matrix Models of Collagen VI-Related Muscular Dystrophies.

Personalized in vitro Extracellular Matrix Models of Collagen VI-Related Muscular Dystrophies.

Journal: Frontiers in bioengineering and biotechnology

Published: January 19, 2022

Sox9 is involved in the thyroid differentiation program and is regulated by crosstalk between TSH, TGFβ and thyroid transcription factors.

Sox9 is involved in the thyroid differentiation program and is regulated by crosstalk between TSH, TGFβ and thyroid transcription factors.

Journal: Scientific reports

Published: September 08, 2021

Unraveling the Complex Interplay Between Transcription Factors and Signaling Molecules in Thyroid Differentiation and Function, From Embryos to Adults.

Unraveling the Complex Interplay Between Transcription Factors and Signaling Molecules in Thyroid Differentiation and Function, From Embryos to Adults.

Journal: Frontiers in endocrinology

Published: January 16, 2021

Showing 1-12 of 19

Last Updated: 09/26/2026