Molecular and cellular evidence for the impact of a hypertrophic cardiomyopathy-associated RAF1 variant on the structure and function of contractile machinery in bioartificial cardiac tissues

Molecular and cellular evidence for the impact of a hypertrophic cardiomyopathy-associated RAF1 variant on the structure and function of contractile machinery in bioartificial cardiac tissues

Abstract Noonan syndrome (NS), the most common among RASopathies, is caused by germline variants in genes encoding components of the RAS-MAPK pathway. Distinct variants, including the recurrent Ser257Leu substitution in RAF1, are associated with severe hypertrophic cardiomyopathy (HCM). Here, we inv...

Full description

Bibliographic Details
Main Authors: Saeideh Nakhaei-Rad, Fereshteh Haghighi, Farhad Bazgir, Julia Dahlmann, Alexandra Viktoria Busley, Marcel Buchholzer, Karolin Kleemann, Anne Schänzer, Andrea Borchardt, Andreas Hahn, Sebastian Kötter, Denny Schanze, Ruchika Anand, Florian Funk, Annette Vera Kronenbitter, Jürgen Scheller, Roland P. Piekorz, Andreas S. Reichert, Marianne Volleth, Matthew J. Wolf, Ion Cristian Cirstea, Bruce D. Gelb, Marco Tartaglia, Joachim P. Schmitt, Martina Krüger, Ingo Kutschka, Lukas Cyganek, Martin Zenker, George Kensah, Mohammad R. Ahmadian
Format: Article
Language:English
Published: Nature Portfolio 2023-06-01
Series:Communications Biology
Online Access:https://doi.org/10.1038/s42003-023-05013-8

Internet

https://doi.org/10.1038/s42003-023-05013-8

Similar Items