Publications by authors named "Mathias Gautel"

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Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism.
Hormos Salimi Dafsari, Celine Deneubourg, Kritarth Singh, Reza Maroofian, Zita Suprenant, Mathias Gautel

Ann Neurol· November 2025

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TITINdb2-expanding annotation and structural information for protein variants in the giant sarcomeric protein titin.
Timir Weston, Joseph Ng, Oriol Gracia Carmona, Mathias Gautel, Franca Fraternali

Bioinform Adv· March 2025

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The deubiquitinase USP5 prevents accumulation of protein aggregates in cardiomyocytes.
Yvonne Eibach, Silke Kreher, Mareike S Poetsch, Ay Lin Kho, Ulrich Gaertner, Mathias Gautel

Sci Adv· January 2025

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Inferring disease course from differential exon usage in the wide titinopathy spectrum.
Maria Francesca Di Feo, Ali Oghabian, Ella Nippala, Mathias Gautel, Heinz Jungbluth

Ann Clin Transl Neurol· October 2024

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A Proof of Principle 2D Spatial Proteome Mapping Analysis Reveals Distinct Regional Differences in the Cardiac Proteome.
Wendy E Heywood, Jon Searle, Richard Collis, Ivan Doykov, Michael Ashworth, Mathias Gautel

Life (Basel)· August 2024

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Walking with giants: The challenges of variant impact assessment in the giant sarcomeric protein titin.
Timir G R Weston, Martin Rees, Mathias Gautel, Franca Fraternali

WIREs Mech Dis· March 2024

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Structure of the native myosin filament in the relaxed cardiac sarcomere.
Davide Tamborrini, Zhexin Wang, Thorsten Wagner, Sebastian Tacke, Markus Stabrin, Mathias Gautel

Nature· November 2023

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Successful heart transplant in a child with congenital core myopathy and delayed-onset restrictive cardiomyopathy due to recessive mutations in the titin (TTN) gene.
Julie Wacker, Stefano Di Bernardo, Johannes Alexander Lobrinus, Heinz Jungbluth, Mathias Gautel

Pediatr Transplant· September 2023

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Structure determination and analysis of titin A-band fibronectin type III domains provides insights for disease-linked variants and protein oligomerisation.
Martin Rees, Roksana Nikoopour, Alexander Alexandrovich, Mark Pfuhl, Luis R Lopes, Mathias Gautel

J Struct Biol· September 2023

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Obscurin Rho GEF domains are phosphorylated by MST-family kinases but do not exhibit nucleotide exchange factor activity towards Rho GTPases in vitro.
Daniel Koch, Ay Lin Kho, Atsushi Fukuzawa, Alexander Alexandrovich, Kutti J Vanaanen, Mathias Gautel

PLoS One· April 2023

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Insights into the Role of a Cardiomyopathy-Causing Genetic Variant in .
Sophie Broadway-Stringer, He Jiang, Kirsty Wadmore, Charlotte Hooper, Gillian Douglas, Mathias Gautel

Cells· February 2023

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The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.
Celine Deneubourg, Mauricio Ramm, Luke J Smith, Olga Baron, Kritarth Singh, Mathias Gautel

Autophagy· March 2022

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Structures from intact myofibrils reveal mechanism of thin filament regulation through nebulin.
Zhexin Wang, Michael Grange, Sabrina Pospich, Thorsten Wagner, Ay Lin Kho, Mathias Gautel

Science· February 2022

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Out-of-Frame Mutations in Last Exon Cause a Dominant Distal Myopathy With Facial Weakness.
Marco Savarese, Anna Vihola, Manu E Jokela, Sanna Pauliina Huovinen, Simonetta Gerevini, Mathias Gautel

Neurol Genet· October 2021

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Sub-diffraction error mapping for localisation microscopy images.
Richard J Marsh, Ishan Costello, Mark-Alexander Gorey, Donghan Ma, Fang Huang, Mathias Gautel

Nat Commun· September 2021

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Myopalladin knockout mice develop cardiac dilation and show a maladaptive response to mechanical pressure overload.
Maria Carmela Filomena, Daniel L Yamamoto, Pierluigi Carullo, Roman Medvedev, Andrea Ghisleni, Mathias Gautel

Elife· September 2021

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Phosphorylation at Serines 157 and 161 Is Necessary for Preserving Cardiac Expression Level and Functions of Sarcomeric Z-Disc Protein Telethonin.
Hannah R Lewis, Seda Eminaga, Mathias Gautel, Metin Avkiran

Front Physiol· September 2021

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Association of Left Ventricular Systolic Dysfunction Among Carriers of Truncating Variants in Filamin C With Frequent Ventricular Arrhythmia and End-stage Heart Failure.
Mohammed Majid Akhtar, Massimiliano Lorenzini, Menelaos Pavlou, Juan Pablo Ochoa, Constantinos O'Mahony, Mathias Gautel

JAMA Cardiol· August 2021

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Molecular noise filtering in the β-adrenergic signaling network by phospholamban pentamers.
Daniel Koch, Alexander Alexandrovich, Florian Funk, Ay Lin Kho, Joachim P Schmitt, Mathias Gautel

Cell Rep· July 2021

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When is an obscurin variant pathogenic? The impact of Arg4344Gln and Arg4444Trp variants on protein-protein interactions and protein stability.
Atsushi Fukuzawa, Daniel Koch, Sarah Grover, Martin Rees, Mathias Gautel

Hum Mol Genet· June 2021

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Order from disorder in the sarcomere: FATZ forms a fuzzy but tight complex and phase-separated condensates with α-actinin.
Antonio Sponga, Joan L Arolas, Thomas C Schwarz, Cy M Jeffries, Ariadna Rodriguez Chamorro, Mathias Gautel

Sci Adv· May 2021

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The molecular basis for sarcomere organization in vertebrate skeletal muscle.
Zhexin Wang, Michael Grange, Thorsten Wagner, Ay Lin Kho, Mathias Gautel

Cell· April 2021

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Making sense of missense variants in TTN-related congenital myopathies.
Martin Rees, Roksana Nikoopour, Atsushi Fukuzawa, Ay Lin Kho, Miguel A Fernandez-Garcia, Mathias Gautel

Acta Neuropathol· March 2021

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High Throughput Screen Identifies Small Molecule Effectors That Modulate Thin Filament Activation in Cardiac Muscle.
Priyanka Parijat, Laszlo Kondacs, Alexander Alexandrovich, Mathias Gautel, Alexander J A Cobb

ACS Chem Biol· January 2021

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The Axial Alignment of Titin on the Muscle Thick Filament Supports Its Role as a Molecular Ruler.
Pauline Bennett, Martin Rees, Mathias Gautel

J Mol Biol· August 2020

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