Mathias Gautel

King's College London — United Kingdom

Medicine · Health Sciences

79h-index23.9kcitations267works1.72yr avg
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Research Topics

Cardiomyopathy and Myosin Studies(173), Muscle Physiology and Disorders(85), Cardiovascular Effects of Exercise(38), Force Microscopy Techniques and Applications(29), RNA and protein synthesis mechanisms(28)

Publications261 total

Abstract 4358220: Patient-derived iPSC-cardiomyocytes harbouring deep intronic <i>MYBPC3</i> variants show features consistent with hypertrophic cardiomyopathy
Circulation·2025
A comprehensive framework for the interpretation of TTN missense variants
2025Open Access
126PFlying under the radar: TTN missense variants accounting for missed titinopathy diagnoses
Neuromuscular Disorders·2025
A comprehensive framework for the interpretation of <i>TTN</i> missense variants
2025· 1 citedOpen Access
The deubiquitinase USP5 prevents accumulation of protein aggregates in cardiomyocytes
Science Advances·2025· 5 citedOpen Access
TITINdb2—expanding annotation and structural information for protein variants in the giant sarcomeric protein titin
Bioinformatics Advances·2024· 2 citedOpen Access
Location-Dependent Differences in Cardiac and Skeletal Muscle Dysfunction Associated With Truncating Titin ( <i>ttn.2</i> ) Variants
2024
19P Recurrent TTN missense variants in biallelic titinopathies: collecting all the puzzle pieces
Neuromuscular Disorders·2024
Single Distal Mutation Enhances Activity of known PETases via Stabilisation of PET-binding
2024· 1 citedOpen Access
Inferring disease course from differential exon usage in the wide titinopathy spectrum
Annals of Clinical and Translational Neurology·2024· 11 citedOpen Access
A Proof of Principle 2D Spatial Proteome Mapping Analysis Reveals Distinct Regional Differences in the Cardiac Proteome
Life·2024· 1 citedOpen Access
TITINdb2 – Expanding Annotation and Structural Information for Protein Variants in the Giant Sarcomeric Protein Titin
2024Open Access
Titin organization in the bare zone of the thick filament of vertebrate striated muscle
Biophysical Journal·2024Open Access
Biophysical and cellular analysis of myopathy-linked titin M10 variants
Biophysical Journal·2024Open Access
Walking with giants: The challenges of variant impact assessment in the giant sarcomeric protein titin
WIREs Mechanisms of Disease·2023· 14 citedOpen Access
Structure of the native myosin filament in the relaxed cardiac sarcomere
Nature·2023· 141 citedOpen Access
Unlocking Predictive Power: A Machine Learning Tool Derived from In-Depth Analysis to Forecast the Impact of Missense Variants in Human Filamin C
2023· 3 citedOpen Access
Structure determination and analysis of titin A-band fibronectin type III domains provides insights for disease-linked variants and protein oligomerisation
Journal of Structural Biology·2023· 4 citedOpen Access
Successful heart transplant in a child with congenital core myopathy and delayed‐onset restrictive cardiomyopathy due to recessive mutations in the titin (<i>TTN</i>) gene
Pediatric Transplantation·2023· 3 citedOpen Access
Obscurin Rho GEF domains are phosphorylated by MST-family kinases but do not exhibit nucleotide exchange factor activity towards Rho GTPases in vitro
PLoS ONE·2023· 4 citedOpen Access
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Frequent Co-authors

Siegfried Labeit(10), Peter F. M. van der Ven(5), Paul Young(5), Dieter O. Fürst(5), Ay Lin Kho(5), Wolfgang A. Linke(5), Stephan Lange(4), Kristina Djinović‐Carugo(4), Anna Vihola(3), Elena Rostkova(3), Birgit Brandmeier(3), Elisabeth Ehler(3), Bjarne Udd(3), Heinz Jungbluth(3), Caroline A. Sewry(3), Ana Ferreiro(3), Mathias Gruen(3), Julio M. Fernández(2), Hermann E. Gaub(2), Gereon Franzen(2)