Article
Signalling through cerebral cavernous malformation protein networks.
Open biology - 1 Nov 2020
Su Valerie L, Calderwood David A
Abstract excerpt
Cerebral cavernous malformations (CCMs) are neurovascular abnormalities characterized by thin, leaky blood vessels resulting in lesions that predispose to haemorrhages, stroke, epilepsy and focal neurological deficits. CCMs arise due to loss-of-function mutations in genes encoding one of three CCM complex proteins, KRIT1, CCM2 or CCM3. These widely expressed, multi-functional adaptor proteins can assemble into a...
Topics
- Animals
- Biomarkers
- Carrier Proteins
- Disease Management
- Disease Susceptibility
- Genetic Predisposition to Disease
- Hemangioma, Cavernous, Central Nervous System
- Humans
- Intracellular Space
- Mutation
- Protein Binding