Article

Amino acid substitutions hydrophilizing the core of titin domains cause dilated cardiomyopathy

2023-06-03

Abstract excerpt

<h4>ABSTRACT</h4> The underlying genetic defect in most cases of dilated cardiomyopathy (DCM), a common inherited heart disease, remains unknown. Intriguingly, many patients carry single missense variants of uncertain pathogenicity targeting the giant protein titin, a fundamental sarcomere component. To explore the deleterious potential of these variants, we first solved the wild-type and mutant crystal structure...

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Literature Corpus work: df1efdba-62b6-53d2-846f-7ef103afe82d
DOI: 10.1101/2023.06.02.543467

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