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Structural mechanism of two gain-of-function cardiac and skeletal RyR mutations at an equivalent site by cryo-EM

Mutations in ryanodine receptors (RyRs), intracellular Ca(2+) channels, are associated with deadly disorders. Despite abundant functional studies, the molecular mechanism of RyR malfunction remains elusive. We studied two single-point mutations at an equivalent site in the skeletal (RyR1 R164C) and...

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Detalles Bibliográficos
Autores principales: Iyer, Kavita A., Hu, Yifan, Nayak, Ashok R., Kurebayashi, Nagomi, Murayama, Takashi, Samsó, Montserrat
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Association for the Advancement of Science 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7439390/
https://www.ncbi.nlm.nih.gov/pubmed/32832689
http://dx.doi.org/10.1126/sciadv.abb2964

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