Article
TTN truncation variants produce sarcomere-integrating proteins of uncertain functional significance.
The Journal of clinical investigation - 16 Jan 2024
Hinson J Travis, Campbell Stuart G
Abstract excerpt
Titin (TTN) is one of the largest and most complex proteins expressed in humans, and truncation variants are the most prevalent genetic lesion identified in individuals with dilated cardiomyopathy (DCM) or other disorders of impaired cardiac contractility. Two reports in this issue of the JCI shed light on a potential mechanism involving truncated TTN sarcomere integration and the potential for disruption of...
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