The Junctophilin-2 Mutation p.(Thr161Lys) Is Associated with Hypertrophic Cardiomyopathy Using Patient-Specific iPS Cardiomyocytes and Demonstrates Prolonged Action Potential and Increased Arrhythmogenicity

The Junctophilin-2 Mutation p.(Thr161Lys) Is Associated with Hypertrophic Cardiomyopathy Using Patient-Specific iPS Cardiomyocytes and Demonstrates Prolonged Action Potential and Increased Arrhythmogenicity

Hypertrophic cardiomyopathy (HCM) is one of the most common genetic cardiac diseases; it is primarily caused by mutations in sarcomeric genes. However, HCM is also associated with mutations in non-sarcomeric proteins and a Finnish founder mutation for HCM in non-sarcomeric protein junctophilin-2 (JP...

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Bibliographic Details
Main Authors: Joona Valtonen, Chandra Prajapati, Reeja Maria Cherian, Sari Vanninen, Marisa Ojala, Krista Leivo, Tiina Heliö, Juha Koskenvuo, Katriina Aalto-Setälä
Format: Article
Language:English
Published: MDPI AG 2023-05-01
Series:Biomedicines
Subjects:
hypertrophic cardiomyopathy
junctophilin-2
disease modelling
isogenic human pluripotent stem cell-derived cardiomyocytes
Online Access:https://www.mdpi.com/2227-9059/11/6/1558

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https://www.mdpi.com/2227-9059/11/6/1558

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