ACTN2 Mutant Causes Proteopathy in Human iPSC-Derived Cardiomyocytes

Genetic variants in α-actinin-2 (ACTN2) are associated with several forms of (cardio)myopathy. We previously reported a heterozygous missense (c.740C>T) ACTN2 gene variant, associated with hypertrophic cardiomyopathy, and characterized by an electro-mechanical phenotype in human induced pluripote...

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Detalles Bibliográficos
Autores principales: Zech, Antonia T. L., Prondzynski, Maksymilian, Singh, Sonia R., Pietsch, Niels, Orthey, Ellen, Alizoti, Erda, Busch, Josefine, Madsen, Alexandra, Behrens, Charlotta S., Meyer-Jens, Moritz, Mearini, Giulia, Lemoine, Marc D., Krämer, Elisabeth, Mosqueira, Diogo, Virdi, Sanamjeet, Indenbirken, Daniela, Depke, Maren, Salazar, Manuela Gesell, Völker, Uwe, Braren, Ingke, Pu, William T., Eschenhagen, Thomas, Hammer, Elke, Schlossarek, Saskia, Carrier, Lucie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9454684/
https://www.ncbi.nlm.nih.gov/pubmed/36078153
http://dx.doi.org/10.3390/cells11172745

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