Article
Truncated titin proteins in dilated cardiomyopathy.
Science translational medicine - 3 Nov 2021
McAfee Quentin, Chen Christina Yingxian, Yang Yifan, Caporizzo Matthew A, Morley Michael, Babu Apoorva, Jeong Sunhye, Brandimarto Jeffrey, Bedi Kenneth C, Flam Emily, Cesare Joseph, Cappola Thomas P, Margulies Kenneth, Prosser Benjamin, Arany Zolt
Abstract excerpt
Truncating variants in TTN (TTNtvs) are the most common known cause of nonischemic dilated cardiomyopathy (DCM), but how TTNtvs cause disease has remained controversial. Efforts to detect truncated titin proteins in affected human DCM hearts have failed, suggesting that disease is caused by haploinsufficiency, but reduced amounts of titin protein have not yet been demonstrated. Here, we leveraged a collection of...
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