The Journal of general physiologySarcomeresAnimalsCodonNonsenseMice
Myosin-binding protein H-like nonsense variants exhibit impaired sarcomere incorporation and alter contractility.
Alejandro Alvarez-Arce, Geena E Fritzmann, Hope V Burnham, Kelly N Araujo, Alexandra Peña, Lucas M Wittenkeller, Hannah E Cizauskas, David Y Barefield
Published: 202610.1085/jgp.202413630
Abstract
Heart function depends on cardiomyocyte contractile apparatus and proper sarcomere protein expression. Variants in sarcomere genes cause inherited forms of cardiomyopathy and arrhythmias, including atrial fibrillation. Recently, a sarcomere component…
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