Mislocalization of pathogenic RBM20 variants in dilated cardiomyopathy is caused by loss-of-interaction with Transportin-3

Severe forms of dilated cardiomyopathy (DCM) are associated with point mutations in the alternative splicing regulator RBM20 that are frequently located in the arginine/serine-rich domain (RS-domain). Such mutations can cause defective splicing and cytoplasmic mislocalization, which leads to the for...

Descripción completa

Detalles Bibliográficos
Autores principales: Kornienko, Julia, Rodríguez-Martínez, Marta, Fenzl, Kai, Hinze, Florian, Schraivogel, Daniel, Grosch, Markus, Tunaj, Brigit, Lindenhofer, Dominik, Schraft, Laura, Kueblbeck, Moritz, Smith, Eric, Mao, Chad, Brown, Emily, Owens, Anjali, Saguner, Ardan M., Meder, Benjamin, Parikh, Victoria, Gotthardt, Michael, Steinmetz, Lars M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10353998/
https://www.ncbi.nlm.nih.gov/pubmed/37463913
http://dx.doi.org/10.1038/s41467-023-39965-6

Ejemplares similares

Ejemplares similares