A mutation in the glutamate-rich region of RNA-binding motif protein 20 causes dilated cardiomyopathy through missplicing of titin and impaired Frank-Starling mechanism.

doi:10.1093/cvr/cvw192

Article

A mutation in the glutamate-rich region of RNA-binding motif protein 20 causes dilated cardiomyopathy through missplicing of titin and impaired Frank-Starling mechanism.

Cardiovascular research - 1 Oct 2016

Beqqali Abdelaziz, Bollen Ilse A E, Rasmussen Torsten B, van den Hoogenhof Maarten M, van Deutekom Hanneke W M, Schafer Sebastian, Haas Jan, Meder Benjamin, Sørensen Keld E, van Oort Ralph J, Mogensen Jens, Hubner Norbert, Creemers Esther E, van der Velden Jolanda, Pinto Yigal M

Abstract excerpt

AIM: Mutations in the RS-domain of RNA-binding motif protein 20 (RBM20) have recently been identified to segregate with aggressive forms of familial dilated cardiomyopathy (DCM). Loss of RBM20 in rats results in missplicing of the sarcomeric gene titin (TTN). The functional and physiological consequences of RBM20 mutations outside the mutational hotspot of RBM20 have not been explored to date. In this study, we...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

A mutation in the glutamate-rich region of RNA-binding motif protein 20 causes dilated cardiomyopathy through missplicing of titin and impaired Frank-Starling mechanism.

Abstract excerpt

Topics

Related research