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

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

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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Crossref · 10.1016/j.molmed.2013.02.004

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  • CCMs in humans are typically located in the cortical white matter, and due to fragile vessels lead to intracerebral hemorrhages, focal neurological deficits, gait ataxia, seizures, and ischemic strokes.

    “CCMs in humans are typically located in the cortical white matter, and due to fragile vessels lead to intracerebral hemorrhages, focal neurological deficits, gait ataxia, seizures, and ischemic strokes (178).”

    From Blood-Brain Barrier: From Physiology to Disease and Back (2019) · cites this paper as [178]

  • Mutations in endothelial KRIT1, CCM2, and PDCD10 genes encoding cerebral cavernous malformation proteins 1, 2, and 3 lead to formation of enlarged and irregular small vessels in the brain including thin-walled capillaries and leaky vascular lesions of venous origin.

    “Mutations in endothelial KRIT1, CCM2, and PDCD10 genes encoding cerebral cavernous malformation (CCM) proteins 1, 2, and 3 lead to formation of enlarged and irregular small vessels in the brain including thin-walled capillaries and leaky vascular lesions of venous origin (178).”

    From Blood-Brain Barrier: From Physiology to Disease and Back (2019) · cites this paper as [178]

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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
Venue
Trends in Molecular Medicine
Publisher
Elsevier BV
Published
2013-05
Volume
19
Issue
5
Pages
302-308
ISSN
1471-4914 (ISSN-L)
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
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 › Neurology › Vascular Malformations Diagnosis and Treatment
  • Health Sciences › Medicine › Genetics › Vascular Anomalies and Treatments
  • Health Sciences › Medicine › 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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