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Recessive TTN truncating mutations define novel forms of core myopathy with heart disease.
Chauveau C, Bonnemann CG, Julien C, Kho AL, Marks H, Talim B, Maury P, Arne-Bes MC, Uro-Coste E, Alexandrovich A, Vihola A, Schafer S, Kaufmann B, Medne L, Hübner N, Foley AR, Santi M, Udd B, Topaloglu H, Moore SA, Gotthardt M, Samuels ME, Gautel M, Ferreiro A. Chauveau C, et al. Among authors: alexandrovich a. Hum Mol Genet. 2014 Feb 15;23(4):980-91. doi: 10.1093/hmg/ddt494. Epub 2013 Oct 8. Hum Mol Genet. 2014. PMID: 24105469 Free PMC article.
Mechanoenzymatics of titin kinase.
Puchner EM, Alexandrovich A, Kho AL, Hensen U, Schäfer LV, Brandmeier B, Gräter F, Grubmüller H, Gaub HE, Gautel M. Puchner EM, et al. Among authors: alexandrovich a. Proc Natl Acad Sci U S A. 2008 Sep 9;105(36):13385-90. doi: 10.1073/pnas.0805034105. Epub 2008 Sep 2. Proc Natl Acad Sci U S A. 2008. PMID: 18765796 Free PMC article.
Structure determination and analysis of titin A-band fibronectin type III domains provides insights for disease-linked variants and protein oligomerisation.
Rees M, Nikoopour R, Alexandrovich A, Pfuhl M, Lopes LR, Akhtar MM, Syrris P, Elliott P, Carr-White G, Gautel M. Rees M, et al. Among authors: alexandrovich a. J Struct Biol. 2023 Sep;215(3):108009. doi: 10.1016/j.jsb.2023.108009. Epub 2023 Aug 5. J Struct Biol. 2023. PMID: 37549721 Free PMC article.
[No title available]
[No authors listed] [No authors listed] PMID: 36783437
68 results