نتایج جستجو برای: mybpc3

تعداد نتایج: 307  

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2014
Thomas Kampourakis Ziqian Yan Mathias Gautel Yin-Biao Sun Malcolm Irving

Myosin binding protein-C (MyBP-C) is a key regulatory protein in heart muscle, and mutations in the MYBPC3 gene are frequently associated with cardiomyopathy. However, the mechanism of action of MyBP-C remains poorly understood, and both activating and inhibitory effects of MyBP-C on contractility have been reported. To clarify the function of the regulatory N-terminal domains of MyBP-C, we det...

2013
Christina Gedicke-Hornung Verena Behrens-Gawlik Silke Reischmann Birgit Geertz Doreen Stimpel Florian Weinberger Saskia Schlossarek Guillaume Précigout Ingke Braren Thomas Eschenhagen Giulia Mearini Stéphanie Lorain Thomas Voit Patrick A Dreyfus Luis Garcia Lucie Carrier

Exon skipping mediated by antisense oligoribonucleotides (AON) is a promising therapeutic approach for genetic disorders, but has not yet been evaluated for cardiac diseases. We investigated the feasibility and efficacy of viral-mediated AON transfer in a Mybpc3-targeted knock-in (KI) mouse model of hypertrophic cardiomyopathy (HCM). KI mice carry a homozygous G>A transition in exon 6, which re...

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