Identification of rare missense variants reducing cathepsin O secretion in families with intracranial aneurysm
Collectively, our findings identify CTSO as a potential new player in arterial remodelling, regulating FN deposition and VSMC function, supporting the causal role of rare coding CTSO variants in familial forms of IA.
Authors
- Sandro Benichi (ORCID: https://orcid.org/0000-0003-1143-2987)
- Solène Jouan
- Stéphanie Chatel (ORCID: https://orcid.org/0000-0003-0677-5627)
- Cyril Dargazanli
- Raphaël Blanchet (ORCID: https://orcid.org/0000-0003-4730-2957)
- Emmanuelle Bourcereau
- Surya Prakash Rao Batta (ORCID: https://orcid.org/0000-0001-8074-316X)
- Milène Fréneau (ORCID: https://orcid.org/0000-0003-1144-4726)
- Marc Rio (ORCID: https://orcid.org/0000-0002-2751-3653)
- Hubert Desal
- Mike Maillasson (ORCID: https://orcid.org/0000-0001-9526-7880)
- Julien Ognard
- Gervaise Loirand (ORCID: https://orcid.org/0000-0002-2306-3931)
- Romain Bourcier
- Mary-Adel Mrad (ORCID: https://orcid.org/0009-0002-0821-8314)
- BR Kwak
- Maxence Bodet
- Fabien Laporte
- Anne-Clémence Vion
- Jean-François Deleuze
- Thibaud Quillard
- Stéphanie Bonnaud
- Stéphane Cuénot
- Arturo Consoli
- Sandrine Morel
Institutions
- University of Geneva (CH)
- Centre National de la Recherche Scientifique (FR)
- Inserm (FR)
- Université de Versailles Saint-Quentin-en-Yvelines (FR)
- Commissariat à l'Énergie Atomique et aux Énergies Alternatives (FR)
- Université Paris-Saclay (FR)
- Centre Hospitalier Universitaire de Nantes (FR)
- Centre National de Recherche en Génomique Humaine (FR)
- Institut des Matériaux Jean Rouxel (FR)
- Centre Hospitalier Universitaire de Montpellier (FR)
- Centre d'Investigation Clinique de Nantes (FR)
- CEA Paris-Saclay (FR)
- Centre Hospitalier Régional Universitaire de Brest (FR)
- Institut du Thorax (FR)
- Hôpital Foch (FR)
- Geneva College (US)
- Nantes Université (FR)
Publication Details
- Journal
- Cardiovascular Research
- Published
- 2026-01-01
- DOI
- https://doi.org/10.1093/cvr/cvaf279
- Primary Topic
- Protease and Inhibitor Mechanisms
- Type
- article
- Field-Weighted Citation Impact
- 0.00