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.

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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
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article

Identification of rare missense variants reducing cathepsin O secretion in families with intracranial aneurysm

Sandro Benichi, Solène Jouan, Stéphanie Chatel, Cyril Dargazanli et al.
Cardiovascular Research
Protease and Inhibitor Mechanisms
article

Identification of rare missense variants reducing cathepsin O secretion in families with intracranial aneurysm

Sandro Benichi, Solène Jouan, Stéphanie Chatel, Cyril Dargazanli, Raphaël Blanchet, Emmanuelle Bourcereau, Surya Prakash Rao Batta, Milène Fréneau, Marc Rio, Hubert Desal, Mike Maillasson, Julien Ognard, Gervaise Loirand, Romain Bourcier, Mary-Adel Mrad, BR Kwak, Maxence Bodet, Fabien Laporte, Anne-Clémence Vion, Jean-François Deleuze, Thibaud Quillard, Stéphanie Bonnaud, Stéphane Cuénot, Arturo Consoli, Sandrine Morel
article en

Abstract

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.

Cardiovascular ResearchVol. 122(1)
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)
Openalex Percentile: Top 94%
Protease and Inhibitor Mechanisms
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