Article
Structural basis for the disruption of the cerebral cavernous malformations 2 (CCM2) interaction with Krev interaction trapped 1 (KRIT1) by disease-associated mutations.
The Journal of biological chemistry - 30 Jan 2015
Fisher Oriana S, Liu Weizhi, Zhang Rong, Stiegler Amy L, Ghedia Sondhya, Weber James L, Boggon Titus J
Abstract excerpt
Familial cerebral cavernous malformations (CCMs) are predominantly neurovascular lesions and are associated with mutations within the KRIT1, CCM2, and PDCD10 genes. The protein products of KRIT1 and CCM2 (Krev interaction trapped 1 (KRIT1) and cerebral cavernous malformations 2 (CCM2), respectively) directly interact with each other. Disease-associated mutations in KRIT1 and CCM2 mostly result in loss of their...
Topics
- Carrier Proteins
- Chromatography, Gel
- Hemangioma, Cavernous, Central Nervous System
- Humans
- Immunoprecipitation
- KRIT1 Protein
- Microtubule-Associated Proteins
- Mutation
- Mutation, Missense