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Truncated titin proteins and titin haploinsufficiency are targets for functional recovery in human cardiomyopathy due to TTN mutations.
Fomin A, Gärtner A, Cyganek L, Tiburcy M, Tuleta I, Wellers L, Folsche L, Hobbach AJ, von Frieling-Salewsky M, Unger A, Hucke A, Koser F, Kassner A, Sielemann K, Streckfuß-Bömeke K, Hasenfuss G, Goedel A, Laugwitz KL, Moretti A, Gummert JF, Dos Remedios CG, Reinecke H, Knöll R, van Heesch S, Hubner N, Zimmermann WH, Milting H, Linke WA. Fomin A, et al. Among authors: unger a. Sci Transl Med. 2021 Nov 3;13(618):eabd3079. doi: 10.1126/scitranslmed.abd3079. Epub 2021 Nov 3. Sci Transl Med. 2021. PMID: 34731013
Functional characterization of novel alpha-helical rod domain desmin (DES) pathogenic variants associated with dilated cardiomyopathy, atrioventricular block and a risk for sudden cardiac death.
Fischer B, Dittmann S, Brodehl A, Unger A, Stallmeyer B, Paul M, Seebohm G, Kayser A, Peischard S, Linke WA, Milting H, Schulze-Bahr E. Fischer B, et al. Among authors: unger a. Int J Cardiol. 2021 Apr 15;329:167-174. doi: 10.1016/j.ijcard.2020.12.050. Epub 2020 Dec 26. Int J Cardiol. 2021. PMID: 33373648
Functional characterization of the novel DES mutation p.L136P associated with dilated cardiomyopathy reveals a dominant filament assembly defect.
Brodehl A, Dieding M, Biere N, Unger A, Klauke B, Walhorn V, Gummert J, Schulz U, Linke WA, Gerull B, Vorgert M, Anselmetti D, Milting H. Brodehl A, et al. Among authors: unger a. J Mol Cell Cardiol. 2016 Feb;91:207-14. doi: 10.1016/j.yjmcc.2015.12.015. Epub 2015 Dec 23. J Mol Cell Cardiol. 2016. PMID: 26724190
Defined Engineered Human Myocardium With Advanced Maturation for Applications in Heart Failure Modeling and Repair.
Tiburcy M, Hudson JE, Balfanz P, Schlick S, Meyer T, Chang Liao ML, Levent E, Raad F, Zeidler S, Wingender E, Riegler J, Wang M, Gold JD, Kehat I, Wettwer E, Ravens U, Dierickx P, van Laake LW, Goumans MJ, Khadjeh S, Toischer K, Hasenfuss G, Couture LA, Unger A, Linke WA, Araki T, Neel B, Keller G, Gepstein L, Wu JC, Zimmermann WH. Tiburcy M, et al. Among authors: unger a. Circulation. 2017 May 9;135(19):1832-1847. doi: 10.1161/CIRCULATIONAHA.116.024145. Epub 2017 Feb 6. Circulation. 2017. PMID: 28167635 Free PMC article.
353 results