Beyond Hotspots: Functional Characterization of the Novel p.Asp2730Tyr Mutation in RYR1 Associated With Malignant Hyperthermia
The p.Asp2730Tyr mutation, situated beyond the established RYR1 hotspot regions, significantly alters calcium release dynamics related to MH. A comprehensive investigation into the structural conformations, functional assays, and in vivo mechanisms associated with this mutation could yield a more profound understanding of the molecular underpinnings of MH pathogenesis.
Authors
- Xiangyang Guo (ORCID: https://orcid.org/0000-0002-5694-2174)
- Yang Zhou (ORCID: https://orcid.org/0000-0002-1548-973X)
- Yinyin Qu (ORCID: https://orcid.org/0000-0001-5919-8283)
- Yiyin Zhang (ORCID: https://orcid.org/0000-0002-4887-2401)
- Zhengqian Li (ORCID: https://orcid.org/0000-0001-6758-0685)
- Tingting Hou (ORCID: https://orcid.org/0000-0002-3693-5081)
- Zhukai Cong (ORCID: https://orcid.org/0000-0001-7026-1765)
- Jiechu Wang
- Luyang Feng (ORCID: https://orcid.org/0000-0002-1441-4437)
- Yao Yu (ORCID: https://orcid.org/0000-0003-0090-8193)
- Zhou Tong
Institutions
- Peking University (CN)
- Peking University Third Hospital (CN)
Publication Details
- Journal
- Anesthesia & Analgesia
- Published
- 2025-05-23
- DOI
- https://doi.org/10.1213/ane.0000000000007584
- Citations
- 1
- Primary Topic
- Ion channel regulation and function
- Type
- article
- Field-Weighted Citation Impact
- 0.81