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Article

Titin domains with reduced core hydrophobicity cause dilated cardiomyopathy.

Cell reports - 26 Dec 2023

Martinez-Martin Ines, Crousilles Audrey, Ochoa Juan Pablo, Velazquez-Carreras Diana, Mortensen Simon A, Herrero-Galan Elias, Delgado Javier, Dominguez Fernando, Garcia-Pavia Pablo, de Sancho David, Wilmanns Matthias, Alegre-Cebollada Jorge

Abstract excerpt

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 structures of I21, the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 38052212
DOI: 10.1016/j.celrep.2023.113490

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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