<i>TAX1BP3</i> Causes TRPV4-Mediated Autosomal Recessive Arrhythmogenic Cardiomyopathy
We conclude that <i>TAX1BP3</i> is associated with rare autosomal recessive ACM through TRPV4-mediated Ca<sup>2+</sup> leak from RyR2. Further, TRPV4 current inhibition has the potential to be a new therapeutic target for ACM.
Authors
- Andrew Paul Landstrom (ORCID: https://orcid.org/0000-0002-1878-9631)
- Paul C. Tang (ORCID: https://orcid.org/0000-0003-4211-8587)
- Qixin Yang (ORCID: https://orcid.org/0000-0003-4911-7894)
- Heidi Cope (ORCID: https://orcid.org/0000-0003-0586-9277)
- Catherine Rehder (ORCID: https://orcid.org/0000-0003-4924-9010)
- Leonie M. Kurzlechner (ORCID: https://orcid.org/0000-0002-9305-0669)
- Hugh G Calkins (ORCID: https://orcid.org/0000-0002-9262-9433)
- Jordan E. Ezekian
- Enya R. Dewars (ORCID: https://orcid.org/0000-0002-8504-8198)
- Amy M. Berkman (ORCID: https://orcid.org/0000-0003-0650-3664)
- Padmapriya Muralidharan (ORCID: https://orcid.org/0000-0002-8031-9833)
- TV Asokan
- Zhushan Zhang (ORCID: https://orcid.org/0000-0001-9366-7805)
- Zebulon Z. Spector
- A SALA
- Michael J. Campbell (ORCID: https://orcid.org/0000-0002-5210-9038)
- Bo Sun (ORCID: https://orcid.org/0000-0002-0388-1451)
- Mike Sullivan
- Robin M. Perelli (ORCID: https://orcid.org/0000-0002-5120-0470)
- Mary E. Moya‐Mendez (ORCID: https://orcid.org/0000-0003-0845-6750)
- Andrew Breglio (ORCID: https://orcid.org/0000-0002-5627-6167)
- Vandana Shashi (ORCID: https://orcid.org/0000-0002-5011-7501)
- Cynthia A. James (ORCID: https://orcid.org/0000-0001-8040-4600)
- Alexander S. Behura
- Anna Ponek
- Gabrielle Monaco
Institutions
- MACOM (United States) (US)
- Johns Hopkins University (US)
- Duke University (US)
- University of Michigan (US)
- Johns Hopkins Bayview Medical Center (US)
- Southwestern Medical Center (US)
- Duke Medical Center (US)
- Duke University Health System (US)
- The University of Texas Southwestern Medical Center (US)
Publication Details
- Journal
- Circulation Research
- Published
- 2025-02-18
- DOI
- https://doi.org/10.1161/circresaha.124.325180
- Citations
- 4
- Primary Topic
- Cardiovascular Effects of Exercise
- Type
- article
- Field-Weighted Citation Impact
- 5.55