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Cerebral Cavernous Malformation Proteins in Barrier Maintenance and Regulation.

ABSTRACT: Cerebral cavernous malformation (CCM) is a disease characterized by mulberry shaped clusters of dilated microvessels, primarily in the central nervous system. Such lesions can cause seizures, headaches, and stroke from brain bleeding. Loss-of-function germline and somatic mutations of a group of genes, called CCM genes, have been attributed to disease pathogenesis. In this review, we discuss the impact of CCM gene encoded proteins on cellular signaling, barrier function of endothelium and epithelium, and their contribution to CCM and potentially other diseases.

SUBMITTER: Wei S

PROVIDER: S-EPMC7013531 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature

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Cerebral Cavernous Malformation Proteins in Barrier Maintenance and Regulation.

Wei Shu S Li Ye Y Polster Sean P SP Weber Christopher R CR Awad Issam A IA Shen Le L

International journal of molecular sciences 20200120 2

Cerebral cavernous malformation (CCM) is a disease characterized by mulberry shaped clusters of dilated microvessels, primarily in the central nervous system. Such lesions can cause seizures, headaches, and stroke from brain bleeding. Loss-of-function germline and somatic mutations of a group of genes, called <i>CCM</i> genes, have been attributed to disease pathogenesis. In this review, we discuss the impact of <i>CCM</i> gene encoded proteins on cellular signaling, barrier function of endothel ...[more]

PMID: 31968585

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