Mathias Gautel

8597

Citations

Research interests

Our research is centred on the mechanisms that organise the smallest contractile unit of striated muscle, the sarcomere, and how sarcomeres cross-talk to signalling mechanisms controlling muscle growth and protein turnover. Many diseases of the heart and skeletal muscles, including the genetic diseases like familial hypertrophic cardiomyopathy result in disruptions of myofibril assembly and turnover. In most cases, the mechanisms that translate individual gene defects into a specific disease pattern are unclear. Identifying the basic biological functions of muscle disease genes is therefore a first step towards understanding, and eventually combating disease.

Research interests (short)

Molecular mechanisms of muscle disease, signal transduction in cardiac muscle sarcomeres.

Click here for the Gautel group webpage

Expertise related to UN Sustainable Development Goals

In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):

SDG 3 Good Health and Well-being

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98 Article
7 Meeting abstract
5 Literature review
3 Review article
More
- 2 Editorial
- 1 Book
- 1 Report
- 1 Chapter
- 1 Letter

A comprehensive framework for the interpretation of TTN missense variants
T. T. N. study group, Dec 2026, In: Genome medicine. 18, 1, 32.
Research output: Contribution to journal › Article › peer-review

Open Access
1 Citation (Scopus)
Location-Dependent Differences in Cardiac and Skeletal Muscle Dysfunction Associated With Truncating Titin (ttn.2) Variants
Santiago, C. F., Huttner, I. G., O'Brien, A. K., Amerudin, M. A. B., Bennett, P. M., Cvetkovska, J., Chand, R., Holt, M., Trivedi, G., Wang, L. W., Yang, X., Smith, K. A., Gautel, M., Fatkin, D. & Hinits, Y., 30 Jan 2026, In: Circulation Research. 138, 3, p. 1-18 18 p., e325999.
Research output: Contribution to journal › Article › peer-review

Open Access
File
86 Downloads (Pure)
Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism
Dafsari, H. S., Deneubourg, C., Singh, K., Maroofian, R., Suprenant, Z., Kho, A. L., Ingham, N. J., Steel, K. P., Sheshadri, P., Baur, F., Hentrich, L., Gerisch, B., Zamani, M., Alves, C., Siddiqui, A., Dafsari, H. S., Salari, M., Lang, A. E., Harris, M. & Abdelaleem, A. & 121 others, Sadeghian, S., Azizimalamiri, R., Galehdari, H., Shariati, G., Sedaghat, A., Zeighami, J., Calame, D., Marafi, D., Duan, R., Boehnke, A., Clark, G. D., Rosenfeld, J. A., Mohila, C. A., Steel, D., Chopra, S., Sharma, S., Kohlschmidt, N., Patzer, S., Saffari, A., Ebrahimi-Fakhari, D., Çavdartepe, B. E., Chang, I. J., Beckman, E., Peters, R., Fennell, A. P., Lo, B., Averdunk, L., Distelmaier, F., Baethmann, M., Elmslie, F., Joost, K., Nampoothiri, S., Yesodharan, D., Mandel, H., Kimball, A., Kline, A. D., Mignot, C., Keren, B., Laugel, V., Õunap, K., Devadathan, K., van Berkestijn, F. M. C., Silwal, A., Koene, S., Verma, S., Karim, M. Y., Boubidi, C., Aziz, M., ElGhazali, G., Mattas, L., Miryounesi, M., Hashemi-Gorji, F., Alavi, S., Nouri, N., Noruzinia, M., Kavousi, S., Kamath, A., Jayawant, S., Saneto, R., Haridy, N. A., Kart, P. O., Cansu, A., Joubert, M., Beneteau, C., Stuurman, K. E., Wilke, M., Barakat, T. S., Tajsharghi, H., Scardamaglia, A., Vallian, S., Hız, S., Shoeibi, A., Boostani, R., Hashemi, N., Babaei, M., Alsaleh, N. S., Porter, J., Attié-Bitach, T., Marzin, P., Wicher, D., Gold, J. I., Schuler, E., Kashgari, A., Alanazi, R. F., Eyaid, W., Engelen, M., Langeveld, M., Stüve, B., Li, Y., Yigit, G., Wollnik, B., Monje, M. H. G., Krainc, D., Mencacci, N. E., Bakhtiari, S., Kruer, M., Argilli, E., Sherr, E., Jamshidi, Y., Karimiani, E. G., Cheung, Y. W. S., Karin, I., Zifarelli, G., Bauer, P., Chung, W. K., Lupski, J. R., Kurian, M. A., Dötsch, J., von Kleist-Retzow, J.-C., Klopstock, T., Wagner, M., Yip, C., Roos, A., Carsetti, R., Dionisi-Vici, C., Gautel, M., Duchen, M. R., Antebi, A., Houlden, H., Fanto, M. & Jungbluth, H., 1 Nov 2025, In: Annals of Neurology. 98, 5, p. 932-950 19 p.
Research output: Contribution to journal › Article › peer-review

Open Access
File
5 Citations (Scopus)

64 Downloads (Pure)
Inferring disease course from differential exon usage in the wide titinopathy spectrum
Di Feo, M. F., Oghabian, A., Nippala, E., Gautel, M., Jungbluth, H., Forzano, F., Malfatti, E., Castiglioni, C., Krey, I., Gomez Andres, D., Brady, A. F., Iascone, M., Cereda, A., Pezzani, L., Natera De Benito, D., Nascimiento Osorio, A., Estévez Arias, B., Kurbatov, S. A., Attie-Bitach, T. & Nampoothiri, S. & 15 others, Ryan, E., Morrow, M., Gorokhova, S., Chabrol, B., Sinisalo, J., Tolppanen, H., Tolva, J., Munell, F., Camacho Soriano, J., Sanchez Duran, M. A., Johari, M., Tajsharghi, H., Hackman, P., Udd, B. & Savarese, M., 28 Oct 2024, In: Annals of Clinical and Translational Neurology. 11, 10, p. 2745-2755 11 p.
Research output: Contribution to journal › Article › peer-review

Open Access
File
7 Citations (Scopus)

26 Downloads (Pure)
Walking with giants: The challenges of variant impact assessment in the giant sarcomeric protein titin
Weston, T. G. R., Rees, M., Gautel, M. & Fraternali, F., 1 Mar 2024, In: WIREs Mechanisms of Disease. 16, 2, e1638.
Research output: Contribution to journal › Review article › peer-review

Open Access
5 Citations (Scopus)

3 Active
47 Finished

Delineating Sarcomere Attributes Spanning Protein-structure to Function to Tackle Cardiac Disease
Gautel, M. (Primary Investigator)
Leducq Foundation Leducq Foundation
1/01/2026 → 31/12/2026
Project: Research
BHF Chair renewal
Gautel, M. (Primary Investigator)
BHF British Heart Foundation
1/10/2023 → 30/09/2028
Project: Research
A comprehensive approach to the genetic, molecular and functional impact of rare titin missense variants in dilated cardiomyopathy
Gautel, M. (Primary Investigator), Fraternali, F. (Co-Investigator) & Zelezniak, A. (Co-Investigator)
BHF British Heart Foundation
9/01/2023 → 8/01/2027
Project: Research
Quantitative Multidimensional Imaging: A centre for Fluorescence Lifetime Imaging Microscopy
Ameer-Beg, S. (Primary Investigator), Burrone, J. (Co-Investigator), Gautel, M. (Co-Investigator), Krause, M. (Co-Investigator), Mann, Z. (Co-Investigator), Martin Serrano, J. (Co-Investigator), Neves, J. (Co-Investigator), Padilla Parra, S. (Co-Investigator), Parsons, M. (Co-Investigator), Poland, S. (Co-Investigator), Serio, A. (Co-Investigator) & academic, A. (Co-Investigator)
MRC Medical Research Council
1/11/2022 → 31/03/2023
Project: Research
A cryo-electron microscope for structural biology (including single-particle and tomography) at KCL.
Conte, M. (Primary Investigator), Atherton, J. (Co-Investigator), Beavil, A. (Co-Investigator), Bergeron, J. (Co-Investigator), Booth, P. (Co-Investigator), Burrone, J. (Co-Investigator), Carlton, J. (Co-Investigator), De Nicola, G. (Co-Investigator), Ehler, E. (Co-Investigator), Fleck, R. (Co-Investigator), Fraternali, F. (Co-Investigator), Garnett, J. (Co-Investigator), Gautel, M. (Co-Investigator), Isaacson, R. (Co-Investigator), Kampourakis, T. (Co-Investigator), Malim, M. (Co-Investigator), McDonnell, J. (Co-Investigator), Neil, S. (Co-Investigator), Odendall, C. (Co-Investigator), Pfuhl, M. (Co-Investigator), Politis, A. (Co-Investigator), Steiner, R. (Co-Investigator) & Sutton, B. (Co-Investigator)
BBSRC Biotechnology and Biological Sciences Research Council
1/08/2022 → 31/07/2023
Project: Research

13 Participation in conference
2 Publication peer-review
1 Editorial activity
1 Types of External academic engagement - Contribution to the work of national or international committees and working groups
More
- 1 Types of External academic engagement - Membership of external research organisation

World Congress of Cardiology, Barcelona (Spain)
Gautel, M. (Keynote/plenary speaker)
2006 → …
Activity: Participating in or organising an event › Participation in conference
New Directions in Muscle Biology and Disease, Dallas (USA)
Gautel, M. (Keynote/plenary speaker)
2006 → …
Activity: Participating in or organising an event › Participation in conference
5th International Ascona Workshop on Cardiomyocyte Cell Biology, Ascona (Switzerland)
Gautel, M. (Keynote/plenary speaker)
2006 → …
Activity: Participating in or organising an event › Participation in conference
University of Boston (USA)
Gautel, M. (Speaker)
2006 → …
Activity: Participating in or organising an event › Participation in conference
European Muscle Congress 2006, Heidelberg (Germany)
Gautel, M. (Keynote/plenary speaker)
2006 → …
Activity: Participating in or organising an event › Participation in conference

HAWKMAN test data and simulations
Marsh, R., Costello, I., Gorey, M., Ma, D., Huang, F., Gautel, M., Parsons, M. & Cox, S., King's College London, 16 Mar 2021
DOI: 10.18742/rdm01-720, https://kcl.figshare.com/articles/dataset/HAWKMAN_test_data_and_simulations/16473957
Dataset
The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy
Deneubourg, C., Ramm, M., Smith, L. J., Baron, O., Singh, K., Byrne, S. C., Duchen, M. R., Gautel, M., Eskelinen, E.-L., Fanto, M. & Jungbluth, H., Taylor & Francis, 19 Oct 2021
DOI: 10.6084/m9.figshare.14790043
Dataset
Additional file 1 of A comprehensive framework for the interpretation of TTN missense variants
Di Feo, M. F., Rees, M., Lillback, V., Kho, A. L., Meybatova, A., Holt, M., Jungbluth, H., Muntoni, F., Baranello, G., Sarkozy, A., Fiorillo, C., Baratto, S., Bruno, C., Traverso, M., Iacomino, M., Pedemonte, M., Brolatti, N., Faravelli, F., Zara, F., Mandarà, G. M. L., Beggs, A. H., Genetti, C. A., Barraza-Flores, P., Rodolico, C., Messina, S., Schnabel, F., Balogh, I., Szakszon, K., Sarv, S., Õunap, K., Ricci, F. S., Mussa, A., Malfatti, E., Bertini, E. S., D’Amico, A., Diodato, D., Catteruccia, M., Ravenscroft, G., Johari, M., Kurbatov, S. A., Chausova, P., Murtazina, A., Kuchina, A., Shchagina, O., Drakos, M., Spilioti, M., Evangeliou, A. E., Zaganas, I., Zhong, H., Luo, S., Merlini, L., Nguyen, C.-T.-E., Tasca, G., Reeves, T., Mörner, S., Danielsson, O., Udd, B., Gautel, M. & Savarese, M., figshare, 26 Feb 2026
DOI: 10.6084/m9.figshare.31840472
Dataset
Additional file 3 of A comprehensive framework for the interpretation of TTN missense variants
Di Feo, M. F., Rees, M., Lillback, V., Kho, A. L., Meybatova, A., Holt, M., Jungbluth, H., Muntoni, F., Baranello, G., Sarkozy, A., Fiorillo, C., Baratto, S., Bruno, C., Traverso, M., Iacomino, M., Pedemonte, M., Brolatti, N., Faravelli, F., Zara, F., Mandarà, G. M. L., Beggs, A. H., Genetti, C. A., Barraza-Flores, P., Rodolico, C., Messina, S., Schnabel, F., Balogh, I., Szakszon, K., Sarv, S., Õunap, K., Ricci, F. S., Mussa, A., Malfatti, E., Bertini, E. S., D’Amico, A., Diodato, D., Catteruccia, M., Ravenscroft, G., Johari, M., Kurbatov, S. A., Chausova, P., Murtazina, A., Kuchina, A., Shchagina, O., Drakos, M., Spilioti, M., Evangeliou, A. E., Zaganas, I., Zhong, H., Luo, S., Merlini, L., Nguyen, C.-T.-E., Tasca, G., Reeves, T., Mörner, S., Danielsson, O., Udd, B., Gautel, M. & Savarese, M., figshare, 26 Feb 2026
DOI: 10.6084/m9.figshare.31840484
Dataset
Raw data for HAWK paper
Marsh, R., Pfisterer, K., Bennett, P., Hirvonen, L., Gautel, M., Jones, G. E. & Cox, S., King's College London, 5 Jun 2018
DOI: 10.18742/RDM01-318, https://kcl.figshare.com/articles/dataset/Raw_data_for_HAWK_paper/16473801
Dataset

Mathias Gautel

Personal profile

Research interests

Research interests (short)

Expertise related to UN Sustainable Development Goals

Fingerprint

Collaborations and top research areas from the last five years

Dive into details

A comprehensive framework for the interpretation of TTN missense variants

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

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

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

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

Delineating Sarcomere Attributes Spanning Protein-structure to Function to Tackle Cardiac Disease

BHF Chair renewal

A comprehensive approach to the genetic, molecular and functional impact of rare titin missense variants in dilated cardiomyopathy

Quantitative Multidimensional Imaging: A centre for Fluorescence Lifetime Imaging Microscopy

A cryo-electron microscope for structural biology (including single-particle and tomography) at KCL.

World Congress of Cardiology, Barcelona (Spain)

New Directions in Muscle Biology and Disease, Dallas (USA)

5th International Ascona Workshop on Cardiomyocyte Cell Biology, Ascona (Switzerland)

University of Boston (USA)

European Muscle Congress 2006, Heidelberg (Germany)

HAWKMAN test data and simulations

The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy

Additional file 1 of A comprehensive framework for the interpretation of TTN missense variants

Additional file 3 of A comprehensive framework for the interpretation of TTN missense variants

Raw data for HAWK paper

Mathias Gautel

Personal profile

Research interests

Research interests (short)

Expertise related to UN Sustainable Development Goals

Fingerprint

Collaborations and top research areas from the last five years

Research output

Projects

Activities

Datasets