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1 |
Material Type: Artigo
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Phosphorylation at Serines 157 and 161 Is Necessary for Preserving Cardiac Expression Level and Functions of Sarcomeric Z-Disc Protein TelethoninLewis, Hannah R ; Eminaga, Seda ; Gautel, Mathias ; Avkiran, MetinFrontiers in physiology, 2021-09, Vol.12, p.732020-732020 [Periódico revisado por pares]Switzerland: Frontiers Media S.ATexto completo disponível |
2 |
Material Type: Artigo
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Nesprin-2 is a novel scaffold protein for telethonin and FHL-2 in the cardiomyocyte sarcomereLi, Chen ; Warren, Derek T. ; Zhou, Can ; De Silva, Shanelle ; Wilson, Darren G.S. ; Garcia-Maya, Mitla ; Wheeler, Matthew A. ; Meinke, Peter ; Sawyer, Greta ; Ehler, Elisabeth ; Wehnert, Manfred ; Rao, Li ; Zhang, Qiuping ; Shanahan, Catherine M.The Journal of biological chemistry, 2024-05, Vol.300 (5), p.107254-107254, Article 107254 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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The Role of Z-disc Proteins in Myopathy and CardiomyopathyWadmore, Kirsty ; Azad, Amar J ; Gehmlich, KatjaInternational journal of molecular sciences, 2021-03, Vol.22 (6), p.3058 [Periódico revisado por pares]Switzerland: MDPI AGTexto completo disponível |
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Material Type: Artigo
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Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular NoncompactionHastings, Robert ; de Villiers, Carin P ; Hooper, Charlotte ; Ormondroyd, Liz ; Pagnamenta, Alistair ; Lise, Stefano ; Salatino, Silvia ; Knight, Samantha J.L ; Taylor, Jenny C ; Thomson, Kate L ; Arnold, Linda ; Chatziefthimiou, Spyros D ; Konarev, Petr V ; Wilmanns, Matthias ; Ehler, Elisabeth ; Ghisleni, Andrea ; Gautel, Mathias ; Blair, Edward ; Watkins, Hugh ; Gehmlich, KatjaCirculation. Cardiovascular genetics, 2016-10, Vol.9 (5), p.426-435 [Periódico revisado por pares]United States: American Heart Association, IncTexto completo disponível |
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Material Type: Artigo
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Identification of a novel titin-cap/telethonin mutation in a Portuguese family with hypertrophic cardiomyopathyToste, Alexandra ; Perrot, Andreas ; Özcelik, Cemil ; Cardim, NunoRevista portuguesa de cardiologia, 2020-06, Vol.39 (6), p.317-327 [Periódico revisado por pares]Elsevier España, S.L.UTexto completo disponível |
6 |
Material Type: Artigo
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Identification of a novel titin-cap/telethonin mutation in a Portuguese family with hypertrophic cardiomyopathyToste, Alexandra ; Perrot, Andreas ; Özcelik, Cemil ; Cardim, NunoRevista portuguesa de cardiologia (English ed.), 2020-06, Vol.39 (6), p.317-327 [Periódico revisado por pares]Elsevier España, S.L.UTexto completo disponível |
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Material Type: Artigo
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Limb girdle muscular dystrophy type 2G with myopathic-neurogenic motor unit potentials and a novel muscle image patternCotta, Ana ; Paim, Julia Filardi ; da-Cunha-Junior, Antonio Lopes ; Neto, Rafael Xavier ; Nunes, Simone Vilela ; Navarro, Monica Magalhaes ; Valicek, Jaquelin ; Carvalho, Elmano ; Yamamoto, Lydia U ; Almeida, Camila F ; Braz, Shelida Vasconcelos ; Takata, Reinaldo Issao ; Vainzof, MarizBMC clinical pathology, 2014-10, Vol.14 (1), p.41-41, Article 41 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
8 |
Material Type: Artigo
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A ZASP Missense Mutation, S196L, Leads to Cytoskeletal and Electrical Abnormalities in a Mouse Model of CardiomyopathyLi, Zhaohui ; Ai, Tomohiko ; Samani, Kaveh ; Xi, Yutao ; Tzeng, Huei-Ping ; Xie, Mingxing ; Wu, Shan ; Ge, Shuping ; Taylor, Michael D ; Dong, Jian-Wen ; Cheng, Jie ; Ackerman, Michael J ; Kimura, Akinori ; Sinagra, Gianfranco ; Brunelli, Luca ; Faulkner, Georgine ; Vatta, MatteoCirculation. Arrhythmia and electrophysiology, 2010-12, Vol.3 (6), p.646-656 [Periódico revisado por pares]Hagerstown, MD: American Heart Association, IncTexto completo disponível |
9 |
Material Type: Artigo
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Distinct roles for telethonin N‐versus C‐terminus in sarcomere assembly and maintenanceSadikot, Takrima ; Hammond, Courtney R. ; Ferrari, Michael B.Developmental dynamics, 2010-04, Vol.239 (4), p.1124-1135 [Periódico revisado por pares]New York: Wiley‐Liss, IncTexto completo disponível |
10 |
Material Type: Artigo
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Two immunoglobulin-like domains of the Z-disc portion of titin interact in a conformation-dependent way with telethoninMues, Alexander ; van der Ven, Peter F.M ; Young, Paul ; Fürst, Dieter O ; Gautel, MathiasFEBS letters, 1998-05, Vol.428 (1), p.111-114 [Periódico revisado por pares]England: Elsevier B.VTexto completo disponível |