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J Cell Sci. 2014 Feb 15;127(Pt 4):701-7. doi: 10.1242/jcs.138388. Epub 2014 Jan 30.

Cerebral cavernous malformation proteins at a glance.

Author information

1
Department of Pharmacology, Yale University School of Medicine, New Haven, CT 06520-8066, USA.

Abstract

Loss-of-function mutations in genes encoding KRIT1 (also known as CCM1), CCM2 (also known as OSM and malcavernin) or PDCD10 (also known as CCM3) cause cerebral cavernous malformations (CCMs). These abnormalities are characterized by dilated leaky blood vessels, especially in the neurovasculature, that result in increased risk of stroke, focal neurological defects and seizures. The three CCM proteins can exist in a trimeric complex, and each of these essential multi-domain adaptor proteins also interacts with a range of signaling, cytoskeletal and adaptor proteins, presumably accounting for their roles in a range of basic cellular processes including cell adhesion, migration, polarity and apoptosis. In this Cell Science at a Glance article and the accompanying poster, we provide an overview of current models of CCM protein function focusing on how known protein-protein interactions might contribute to cellular phenotypes and highlighting gaps in our current understanding.

KEYWORDS:

CCM; Cell signaling; Cerebral cavernous malformations; KRIT1; PCDC10; Rho Signaling; Vascular biology

PMID:
24481819
PMCID:
PMC3924200
DOI:
10.1242/jcs.138388
[Indexed for MEDLINE]
Free PMC Article

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