Cerebral Cavernous Malformation Proteins in Barrier Maintenance and Regulation
Open Access
- 20 January 2020
- journal article
- review article
- Published by MDPI AG in International Journal of Molecular Sciences
- Vol. 21 (2), 675
- https://doi.org/10.3390/ijms21020675
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.Funding Information
- National Institute of Diabetes and Digestive and Kidney Diseases (K01 DK092381, P30 DK042086)
- U.S. Department of Defense (W81XWH-18-1-0501)
- Crohn's and Colitis Foundation of America (608820)
- National Institute of Neurological Disorders and Stroke (P01 NS092521)
- National Institutes of Health (UL1 TR001863)
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