Disparate molecular mechanisms in cardiac ryanodine receptor channelopathies
The NTD-CSol inter-subunit interface variant, A77T, produces a hyperactive channel by altering a different structure-function parameter to other CPVT mutations within the RyR2 NTD. Reduced NTD-NTD inter-subunit interaction and reinforced NTD inter-subunit interaction with CSol are distinct molecular mechanisms for gain-of-function RyR2 arrhythmogenic mutations.
Authors
- Esther Zorio (ORCID: https://orcid.org/0000-0003-3608-4210)
- Dimitris Parthimos (ORCID: https://orcid.org/0000-0003-3852-323X)
- F. Anthony Lai
- Camille Rabesahala de Meritens (ORCID: https://orcid.org/0000-0002-0380-6881)
- Spyros Zissimopoulos (ORCID: https://orcid.org/0000-0001-5196-9450)
- Syeda Ahmed
- Monika Seidel (ORCID: https://orcid.org/0000-0002-8412-7580)
- Astrid Beckmann (ORCID: https://orcid.org/0000-0003-0327-0607)
- Yadan Zhang (ORCID: https://orcid.org/0000-0003-0955-3595)
- Melanie Hurtz
Institutions
- Universitat de València (ES)
- Hospital Universitari i Politècnic La Fe (ES)
- Swansea University (GB)
- Centro de Investigación en Red en Enfermedades Cardiovasculares (ES)
- Centre for Biomedical Network Research on Rare Diseases (ES)
- Instituto de Investigación Sanitaria La Fe (ES)
- Qatar University (QA)
- Cardiff University (GB)
Publication Details
- Journal
- Frontiers in Molecular Biosciences
- Published
- 2024-12-24
- DOI
- https://doi.org/10.3389/fmolb.2024.1505698
- Primary Topic
- Cardiac electrophysiology and arrhythmias
- Type
- article
- Field-Weighted Citation Impact
- 0.00