Cited by 199Vascular Malformations Diagnosis and TreatmentVascular Anomalies and TreatmentsIntracerebral and Subarachnoid Hemorrhage Research

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Cerebral cavernous malformations: from CCM genes to endothelial cell homeostasis

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Fischer, Andreas, Zalvide, Juan, Faurobert, Eva, Albiges-Rizo, Corinne, Tournier-Lasserve, Elisabeth·2013·Trends in Molecular Medicine

DOI 10.1016/j.molmed.2013.02.004

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Abstract

Cerebral cavernous malformations (CCMs) are vascular lesions that can occur sporadically or as a consequence of inherited loss-of-function mutations, predominantly in the genes CCM1 (KRIT1), CCM2 (MGC4607, OSM, Malcavernin), or CCM3 (PDCD10, TFAR15). Inherited, familial CCM is characterized by the development of multiple lesions throughout a patient's life leading to recurrent cerebral hemorrhages. Recently, roles for the CCM proteins in maintaining vascular barrier functions and quiescence have been elucidated, and in this review we summarize the genetics and pathophysiology of this disease and discuss the molecular mechanisms through which CCM proteins may act within blood vessels.

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Authors: Fischer, A., Zalvide, J., Faurobert, E., Albiges-Rizo, C., & Tournier-Lasserve, E.
Affiliations: German Cancer Research Center (DE)
Universidade de Santiago de Compostela (ES)
Centre National de la Recherche Scientifique (FR)
Corresponding author: Fischer, Andreas
ORCID: Fischer, Andreas
Zalvide, Juan
Faurobert, Eva
Venue: Trends in Molecular Medicine
Publisher: Elsevier BV
Published: 2013-05
Volume: 19
Issue: 5
Pages: 302-308
ISSN: 1471-4914 (ISSN-L)
DOI: 10.1016/j.molmed.2013.02.004
OpenAlex: W1967147410
Cited by: 199
References: 73
Citations by year: 2026: 8 · 2025: 10 · 2024: 15 · 2023: 11 · 2022: 14 · 2021: 15 · 2020: 23 · 2019: 14 · 2018: 14 · 2017: 16 · 2016: 14 · 2015: 23 · 2014: 17 · 2013: 4
FWCI: 2.52
Type: journal article
Language: en
Open access: green
hdl.handle.net
Licence: other-oa
www.elsevier.com/tdm/userlicense/1.0/ (tdm)
Locations: Trends in Molecular Medicine (publishedVersion)
PubMed (publishedVersion)
RUNA. Repositorio Institucional del Sergas (Servicio Gallego de Salud (SERGAS)) (submittedVersion, other-oa)
Funders: European Commission
Topics: Health Sciences › Medicine › Clinical Neurology › Vascular Malformations Diagnosis and Treatment
Health Sciences › Medicine › Genetics (clinical) › Vascular Anomalies and Treatments
Health Sciences › Medicine › Clinical Neurology › Intracerebral and Subarachnoid Hemorrhage Research
Keywords: cerebral cavernous malformations, loss-of-function mutations, vascular barrier function, pathophysiology
MeSH terms: KRIT1 Protein, Animals, Carrier Proteins, Central Nervous System, Homeostasis, Humans, Membrane Proteins, Microtubule-Associated Proteins, Neovascularization, Pathologic, Proto-Oncogene Proteins, Hemangioma, Cavernous, Central Nervous System, Endothelial Cells, Apoptosis Regulatory Proteins

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Cerebral cavernous malformations: from CCM genes to endothelial cell homeostasis

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