[HTML][HTML] Structural basis for the disruption of the cerebral cavernous malformations 2 (CCM2) interaction with Krev interaction trapped 1 (KRIT1) by disease-associated …
OS Fisher, W Liu, R Zhang, AL Stiegler… - Journal of Biological …, 2015 - ASBMB
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 protein products,
although rare missense point mutations can also occur. From gene sequencing of patients …
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 protein products,
although rare missense point mutations can also occur. From gene sequencing of patients …