Mathias Gautel

London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 65 publications

Biallelic titin truncation disrupts sarcomere assembly and function in patient-derived iPSC-cardiomyocytes.

Biallelic titin truncation disrupts sarcomere assembly and function in patient-derived iPSC-cardiomyocytes.

Journal: Journal of molecular and cellular cardiology
Published: March 13, 2026

Location-Dependent Differences in Cardiac and Skeletal Muscle Dysfunction Associated With Truncating Titin (ttn.2) Variants.

Location-Dependent Differences in Cardiac and Skeletal Muscle Dysfunction Associated With Truncating Titin (ttn.2) Variants.

Journal: Circulation research
Published: January 07, 2026

Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism.

Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism.

Journal: Annals of neurology
Published: March 04, 2025

The deubiquitinase USP5 prevents accumulation of protein aggregates in cardiomyocytes.

The deubiquitinase USP5 prevents accumulation of protein aggregates in cardiomyocytes.

Journal: Science advances
Published: January 22, 2025

TITINdb2-expanding annotation and structural information for protein variants in the giant sarcomeric protein titin.

TITINdb2-expanding annotation and structural information for protein variants in the giant sarcomeric protein titin.

Journal: Bioinformatics advances
Published: October 02, 2024

Inferring disease course from differential exon usage in the wide titinopathy spectrum.

Inferring disease course from differential exon usage in the wide titinopathy spectrum.

Journal: Annals of clinical and translational neurology
Published: July 23, 2024

A Proof of Principle 2D Spatial Proteome Mapping Analysis Reveals Distinct Regional Differences in the Cardiac Proteome.

A Proof of Principle 2D Spatial Proteome Mapping Analysis Reveals Distinct Regional Differences in the Cardiac Proteome.

Journal: Life (Basel, Switzerland)
Published: April 26, 2024

Walking with giants: The challenges of variant impact assessment in the giant sarcomeric protein titin.

Walking with giants: The challenges of variant impact assessment in the giant sarcomeric protein titin.

Journal: WIREs mechanisms of disease
Published: June 15, 2023

Structure determination and analysis of titin A-band fibronectin type III domains provides insights for disease-linked variants and protein oligomerisation.

Structure determination and analysis of titin A-band fibronectin type III domains provides insights for disease-linked variants and protein oligomerisation.

Journal: Journal of structural biology
Published: April 30, 2023

Structure of the native myosin filament in the relaxed cardiac sarcomere.

Structure of the native myosin filament in the relaxed cardiac sarcomere.

Journal: Nature
Published: April 03, 2023

Successful heart transplant in a child with congenital core myopathy and delayed-onset restrictive cardiomyopathy due to recessive mutations in the titin (TTN) gene.

Successful heart transplant in a child with congenital core myopathy and delayed-onset restrictive cardiomyopathy due to recessive mutations in the titin (TTN) gene.

Journal: Pediatric transplantation
Published: April 02, 2023

Insights into the Role of a Cardiomyopathy-Causing Genetic Variant in ACTN2.

Insights into the Role of a Cardiomyopathy-Causing Genetic Variant in ACTN2.

Journal: Cells
Published: October 26, 2022
Showing 1-12 of 65

Last Updated: 09/26/2026