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Cardiac splicing as a diagnostic and therapeutic target.
Gotthardt M, Badillo-Lisakowski V, Parikh VN, Ashley E, Furtado M, Carmo-Fonseca M, Schudy S, Meder B, Grosch M, Steinmetz L, Crocini C, Leinwand L. Gotthardt M, et al. Nat Rev Cardiol. 2023 Aug;20(8):517-530. doi: 10.1038/s41569-022-00828-0. Epub 2023 Jan 18. Nat Rev Cardiol. 2023. PMID: 36653465 Review.
Clinical genetics and outcome of left ventricular non-compaction cardiomyopathy.
Sedaghat-Hamedani F, Haas J, Zhu F, Geier C, Kayvanpour E, Liss M, Lai A, Frese K, Pribe-Wolferts R, Amr A, Li DT, Samani OS, Carstensen A, Bordalo DM, Müller M, Fischer C, Shao J, Wang J, Nie M, Yuan L, Haßfeld S, Schwartz C, Zhou M, Zhou Z, Shu Y, Wang M, Huang K, Zeng Q, Cheng L, Fehlmann T, Ehlermann P, Keller A, Dieterich C, Streckfuß-Bömeke K, Liao Y, Gotthardt M, Katus HA, Meder B. Sedaghat-Hamedani F, et al. Among authors: gotthardt m. Eur Heart J. 2017 Dec 7;38(46):3449-3460. doi: 10.1093/eurheartj/ehx545. Eur Heart J. 2017. PMID: 29029073
SLM2 Is A Novel Cardiac Splicing Factor Involved in Heart Failure due to Dilated Cardiomyopathy.
Boeckel JN, Möbius-Winkler M, Müller M, Rebs S, Eger N, Schoppe L, Tappu R, Kokot KE, Kneuer JM, Gaul S, Bordalo DM, Lai A, Haas J, Ghanbari M, Drewe-Boss P, Liss M, Katus HA, Ohler U, Gotthardt M, Laufs U, Streckfuss-Bömeke K, Meder B. Boeckel JN, et al. Among authors: gotthardt m. Genomics Proteomics Bioinformatics. 2022 Feb;20(1):129-146. doi: 10.1016/j.gpb.2021.01.006. Epub 2021 Jul 15. Genomics Proteomics Bioinformatics. 2022. PMID: 34273561 Free PMC article.
Cardiac sarcomere mechanics in health and disease.
Crocini C, Gotthardt M. Crocini C, et al. Among authors: gotthardt m. Biophys Rev. 2021 Oct 12;13(5):637-652. doi: 10.1007/s12551-021-00840-7. eCollection 2021 Oct. Biophys Rev. 2021. PMID: 34745372 Free PMC article. Review.
Therapeutic inhibition of RBM20 improves diastolic function in a murine heart failure model and human engineered heart tissue.
Radke MH, Badillo-Lisakowski V, Britto-Borges T, Kubli DA, Jüttner R, Parakkat P, Carballo JL, Hüttemeister J, Liss M, Hansen A, Dieterich C, Mullick AE, Gotthardt M. Radke MH, et al. Among authors: gotthardt m. Sci Transl Med. 2021 Dec;13(622):eabe8952. doi: 10.1126/scitranslmed.abe8952. Epub 2021 Dec 1. Sci Transl Med. 2021. PMID: 34851694
Striated muscle-specific base editing enables correction of mutations causing dilated cardiomyopathy.
Grosch M, Schraft L, Chan A, Küchenhoff L, Rapti K, Ferreira AM, Kornienko J, Li S, Radke MH, Krämer C, Clauder-Münster S, Perlas E, Backs J, Gotthardt M, Dieterich C, van den Hoogenhof MMG, Grimm D, Steinmetz LM. Grosch M, et al. Among authors: gotthardt m. Nat Commun. 2023 Jun 22;14(1):3714. doi: 10.1038/s41467-023-39352-1. Nat Commun. 2023. PMID: 37349314 Free PMC article.
Mislocalization of pathogenic RBM20 variants in dilated cardiomyopathy is caused by loss-of-interaction with Transportin-3.
Kornienko J, Rodríguez-Martínez M, Fenzl K, Hinze F, Schraivogel D, Grosch M, Tunaj B, Lindenhofer D, Schraft L, Kueblbeck M, Smith E, Mao C, Brown E, Owens A, Saguner AM, Meder B, Parikh V, Gotthardt M, Steinmetz LM. Kornienko J, et al. Among authors: gotthardt m. Nat Commun. 2023 Jul 18;14(1):4312. doi: 10.1038/s41467-023-39965-6. Nat Commun. 2023. PMID: 37463913 Free PMC article.
303 results