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Pathological conformations of disease mutant Ryanodine Receptors revealed by cryo-EM

Ryanodine Receptors (RyRs) are massive channels that release Ca(2+) from the endoplasmic and sarcoplasmic reticulum. Hundreds of mutations are linked to malignant hyperthermia (MH), myopathies, and arrhythmias. Here, we explore the first MH mutation identified in humans by providing cryo-EM snapshot...

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Detalles Bibliográficos
Autores principales: Woll, Kellie A., Haji-Ghassemi, Omid, Van Petegem, Filip
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7864917/
https://www.ncbi.nlm.nih.gov/pubmed/33547325
http://dx.doi.org/10.1038/s41467-021-21141-3