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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: knoll r. Sci Transl Med. 2021 Nov 3;13(618):eabd3079. doi: 10.1126/scitranslmed.abd3079. Epub 2021 Nov 3. Sci Transl Med. 2021. PMID: 34731013
Abnormal contractility in human heart myofibrils from patients with dilated cardiomyopathy due to mutations in TTN and contractile protein genes.
Vikhorev PG, Smoktunowicz N, Munster AB, Copeland O, Kostin S, Montgiraud C, Messer AE, Toliat MR, Li A, Dos Remedios CG, Lal S, Blair CA, Campbell KS, Guglin M, Richter M, Knöll R, Marston SB. Vikhorev PG, et al. Among authors: knoll r. Sci Rep. 2017 Nov 1;7(1):14829. doi: 10.1038/s41598-017-13675-8. Sci Rep. 2017. PMID: 29093449 Free PMC article.
Age-dependent changes in contractile function and passive elastic properties of myocardium from mice lacking muscle LIM protein (MLP).
Unsöld B, Schotola H, Jacobshagen C, Seidler T, Sossalla S, Emons J, Klede S, Knöll R, Guan K, El-Armouche A, Linke WA, Kögler H, Hasenfuss G. Unsöld B, et al. Among authors: knoll r. Eur J Heart Fail. 2012 Apr;14(4):430-7. doi: 10.1093/eurjhf/hfs020. Epub 2012 Feb 26. Eur J Heart Fail. 2012. PMID: 22371524 Free article.
Targeted therapies in genetic dilated and hypertrophic cardiomyopathies: from molecular mechanisms to therapeutic targets. A position paper from the Heart Failure Association (HFA) and the Working Group on Myocardial Function of the European Society of Cardiology (ESC).
de Boer RA, Heymans S, Backs J, Carrier L, Coats AJS, Dimmeler S, Eschenhagen T, Filippatos G, Gepstein L, Hulot JS, Knöll R, Kupatt C, Linke WA, Seidman CE, Tocchetti CG, van der Velden J, Walsh R, Seferovic PM, Thum T. de Boer RA, et al. Among authors: knoll r. Eur J Heart Fail. 2022 Mar;24(3):406-420. doi: 10.1002/ejhf.2414. Epub 2022 Jan 14. Eur J Heart Fail. 2022. PMID: 34969177 Free PMC article.
A common MLP (muscle LIM protein) variant is associated with cardiomyopathy.
Knöll R, Kostin S, Klede S, Savvatis K, Klinge L, Stehle I, Gunkel S, Kötter S, Babicz K, Sohns M, Miocic S, Didié M, Knöll G, Zimmermann WH, Thelen P, Bickeböller H, Maier LS, Schaper W, Schaper J, Kraft T, Tschöpe C, Linke WA, Chien KR. Knöll R, et al. Among authors: knoll g. Circ Res. 2010 Mar 5;106(4):695-704. doi: 10.1161/CIRCRESAHA.109.206243. Epub 2009 Dec 31. Circ Res. 2010. PMID: 20044516
Author Correction: Abnormal contractility in human heart myofibrils from patients with dilated cardiomyopathy due to mutations in TTN and contractile protein genes.
Vikhorev PG, Smoktunowicz N, Munster AB, Copeland ON, Kostin S, Montgiraud C, Messer AE, Toliat MR, Li A, Dos Remedios CG, Lal S, Blair CA, Campbell KS, Guglin M, Richter M, Knöll R, Marston SB. Vikhorev PG, et al. Among authors: knoll r. Sci Rep. 2018 Sep 24;8(1):14485. doi: 10.1038/s41598-018-32408-z. Sci Rep. 2018. PMID: 30250041 Free PMC article.
OBSCN Mutations Associated with Dilated Cardiomyopathy and Haploinsufficiency.
Marston S, Montgiraud C, Munster AB, Copeland O, Choi O, Dos Remedios C, Messer AE, Ehler E, Knöll R. Marston S, et al. Among authors: knoll r. PLoS One. 2015 Sep 25;10(9):e0138568. doi: 10.1371/journal.pone.0138568. eCollection 2015. PLoS One. 2015. PMID: 26406308 Free PMC article.
187 results