Impaired Binding to Junctophilin-2 and Nanostructural Alteration in CPVT Mutation

Circ Res. 2021 Jul 23;129(3):e35-e52. doi: 10.1161/CIRCRESAHA.121.319094. Epub 2021 Jun 11.

¹ Signaling and Cardiovascular Pathophysiology - UMR-S 1180, Inserm, Université Paris-Saclay 92296 Châtenay-Malabry, France (L.Y., A.Z., R.R., P.J., E.M.-S., O.V., L.L., Y.Y.W., P.M., P.G., R.P., J.L.A., J.-P.B., A.M.G.).
² CAST, Department of Neuroscience, Imaging and Clinical Sciences (DNICS), Medicine and Ageing Sciences (DMSI), University Gabriele d'Annunzio, Chieti, Italy (S.B., F.P.).
³ Swansea University Medical School, Institute of Life Science, Swansea, SA2 8PP, UK (C.R.d.M., Y.Z., S.Z.).
⁴ Physiotherapy, University of Valencia, Valencia, Spain (E.M.-S.).
⁵ Physiology and Biophysics, Rush University Medical Center, Chicago, IL, USA (Y.A.-S., J.R.-F.).
⁶ Physiology, University of Bern, Bern, Switzerland (M.F.-T., E.N.).
⁷ IPSIT, 92296 Châtenay-Malabry, France (V.N.).
⁸ College of Medicine, Biomedical & Pharmaceutical Research Unit, QU Health, & Biomedical Research Centre, Qatar University, Doha, Qatar (F.A.L.).
⁹ Institute of Cardiology, Havana, Cuba (J.L.A.).
¹⁰ Medicine and Cardiovascular Research Center, University of Wisconsin-Madison School of Medicine and Public Health, Madison, Wisconsin (H.H.V., C.R.V.).
¹¹ Cardiology Department and Unidad de Cardiopatías Familiares, Muerte Súbita y Mecanismos de Enfermedad (CaFaMuSMe), Hospital Universitario y Politécnico La Fe and Instituto de Investigación Sanitaria La Fe, Valencia, Spain (E.Z.).
¹² Center for Biomedical Network Research on Cardiovascular diseases (CIBERCV), Madrid, Spain (E.Z.).

^# Contributed equally.

Abstract

[Figure: see text].

Keywords: action potential; calcium; junctophilin; mutation; ryanodine receptor; ventricular tachycardia.