Advances in understanding the state of titin truncation variants in dilated cardiomyopathy
Author:
Funder
National Institutes of Health
Publisher
Springer Science and Business Media LLC
Subject
Physiology (medical),Clinical Biochemistry,Physiology
Link
https://link.springer.com/content/pdf/10.1007/s00424-022-02664-0.pdf
Reference9 articles.
1. Bollen IAE, Schuldt M, Harakalova M, Vink A, Asselbergs FW, Pinto JR et al (2017) Genotype-specific pathogenic effects in human dilated cardiomyopathy. J Physiol 595:4677–4693. https://doi.org/10.1113/JP274145
2. Fomin A, Gärtner A, Cyganek L, Tiburcy M, Tuleta I, Wellers L et al (2021) Truncated titin proteins and titin haploinsufficiency are targets for functional recovery in human cardiomyopathy due to TTN mutations. Sci Transl Med 13:eabd3079. https://doi.org/10.1126/scitranslmed.abd3079
3. McAfee Q, Chen CY, Yang Y, Caporizzo MA, Morley M, Babu A et al (2021) Truncated titin proteins in dilated cardiomyopathy. Sci Transl Med 13:eabd7287. https://doi.org/10.1126/scitranslmed.abd3079
4. Predmore JM, Wang P, Davis F, Bartolone S, Westfall MV, Dyke DB et al (2010) Ubiquitin proteasome dysfunction in human hypertrophic and dilated cardiomyopathies. Circulation 121:997–1004. https://doi.org/10.1161/CIRCULATIONAHA.109.90455
5. Schafer S, de Marvao A, Adami E, Fiedler LR, Ng B, Khin E et al (2017) Titin-truncating variants affect heart function in disease cohorts and the general population. Nat Genet 49:46–53. https://doi.org/10.1038/ng.3719
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