<i>ACTA2</i> Pathogenic Variants Activating Heat Shock Factor 1 and Increasing Cholesterol Biosynthesis in Smooth Muscle Cells Predispose to Early Onset Atherosclerosis
Assays assessing the molecular mechanism that leads to early onset ASCVD can identify which <i>ACTA2</i> pathogenic variants will trigger this condition. Ultimately, this information informs precision medical care for individuals with <i>ACTA2</i> pathogenic variants, with the ultimate goal of preventing thoracic aortic disease and ASCVD.
Authors
- E. Calderon Martinez
- R. Jeremy
- Harleen K. Sandhu (ORCID: https://orcid.org/0000-0001-6960-4345)
- Abhijnan Chattopadhyay (ORCID: https://orcid.org/0000-0002-9907-213X)
- Amélie Pinard (ORCID: https://orcid.org/0000-0003-1882-5740)
- Kim A. Eagle
- Maura L. Boerio (ORCID: https://orcid.org/0000-0003-2000-2815)
- Alan C. Braverman (ORCID: https://orcid.org/0000-0003-1859-310X)
- Julien Marcadier
- Sree Dharma
- Shaine Morris
- Andrew K. Morse
- Darshan Reddy
- Aamuktha Karla
- Xue-Yan Duan
- Walter Velasco-Torrez
Institutions
- Boston University (US)
- The University of Sydney (AU)
- Oregon Health & Science University (US)
- Washington University in St. Louis (US)
- Ghent University Hospital (BE)
- Alberta Children's Hospital (CA)
- Texas Children's Hospital (US)
- The University of Texas Health Science Center (US)
- University of Nebraska Medical Center (US)
Publication Details
- Journal
- Circulation Genomic and Precision Medicine
- Published
- 2026-01-26
- DOI
- https://doi.org/10.1161/circgen.125.005169
- Primary Topic
- Connective tissue disorders research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- American Heart Association
- National Heart, Lung, and Blood Institute