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.
Document Details
- Document Type
- Pub Defense Publication
- Publication Date
- Jan 20, 2020
- Source ID
- 10.3390/ijms21020675
Entities
People
- Christopher R. Weber
- Issam A. Awad
- Le Shen
- Sean P Polster
- Shu Wei
- Ye Li
Organizations
- Crohn's & Colitis Foundation of America
- Foundation for the National Institutes of Health
- National Institute of Diabetes and Digestive and Kidney Diseases
- National Institute of Neurological Disorders and Stroke
- United States Department of Defense