Article
A two-hit mechanism causes cerebral cavernous malformations: complete inactivation of CCM1, CCM2 or CCM3 in affected endothelial cells.
Human molecular genetics - 1 Mar 2009
Pagenstecher Axel, Stahl Sonja, Sure Ulrich, Felbor Ute
Abstract excerpt
Cavernous vascular malformations occur with a frequency of 1:200 and can cause recurrent headaches, seizures and hemorrhagic stroke if located in the brain. Familial cerebral cavernous malformations (CCMs) have been associated with germline mutations in CCM1/KRIT1, CCM2 or CCM3/PDCD10. For each o...
Topics
- Animals
- Apoptosis Regulatory Proteins
- Brain
- Carrier Proteins
- Cell Line
- Cells, Cultured
- Endothelial Cells
- Gene Expression
- Gene Silencing
- Hemangioma, Cavernous, Central Nervous System
- Humans
- KRIT1 Protein
- Membrane Proteins
- Mice
- Microtubule-Associated Proteins
- Mutation
- Protein Transport
- Proto-Oncogene Proteins