anti-CCM2 (CCM2) Antikörper

Human Cerebral Cavernous Malformation 2 (CCM2) Interaktionspartner

1. A novel missense mutation in CCM2 were detected in cerebral cavernous malformations patient. Several CCM2 gene polymorphisms in sporadic CCM patients were reported.

2. Data suggest that signaling via ANP (zeige NPPA Antikörper)/ANPR (atrial natriuretic factor/ANP (zeige NPPA Antikörper) receptor (zeige PPP5C Antikörper)) in vascular endothelial cells activates PAK4 (p21-activated kinase 4 (zeige PAK4 Antikörper)) and CCM2 (cerebral cavernous malformation 2 protein), resulting in phosphorylation of MLC (myosin light chain), cytoskeletal reorganization, and cell spreading; kinase homology domain of ANPRA (guanylyl cyclase-A (zeige NPR1 Antikörper)) activates downstream targets of ANP (zeige NPPA Antikörper)/ANPR signaling.

3. Studies suggest that the 3 proteins of the Cerebral Cavernous Malformations (CCM) complex KRIT1/CCM1 (zeige KRIT1 Antikörper), CCM2/malcavernin and CCM3/PDCD10 (zeige PDCD10 Antikörper) not only require one another for reciprocal stabilization, but also act as a platform for signal transduction.

4. a new mutation in MGC4607/CCM2 was identified in several family members with spinal and cutaneous angiomas.

5. both CCM2 and CCM3 (zeige PDCD10 Antikörper) are required for normal endothelial cell network formation.

6. Data find that several disease-associated missense mutations in CCM2 have the potential to interrupt the KRIT1 (zeige KRIT1 Antikörper)-CCM2 interaction by destabilizing the CCM2 PTB (zeige PTBP1 Antikörper) domain and that a KRIT1 (zeige KRIT1 Antikörper) mutation also disrupts this interaction

7. Prevalence, frequency and characterization of CCM1 (zeige KRIT1 Antikörper), CCM2 and CCM3 (zeige PDCD10 Antikörper) variants in cerebral cavernous malformation Spanish patients.

8. Cerebral cavernous malformation(CCM)s develop because of loss of heart of glass (HEG (zeige HEG1 Antikörper))-independent CCM2 signaling in murine transgenic endothelium of central nervous system after birth.

9. DNA sequencing and deletion/duplication testing of the CCM1 (zeige KRIT1 Antikörper), CCM2, and CCM3 (zeige PDCD10 Antikörper) genes in the proband revealed a CCM1 (zeige KRIT1 Antikörper) c.601CNG mutation.

10. CCM2 mutations are associated with cerebral cavernous malformation in some Japanese patients.

Mouse (Murine) Cerebral Cavernous Malformation 2 (CCM2) Interaktionspartner

1. Loss of CCM2 is associated with Cerebral Cavernous Malformations.

2. CCM2 expression and it's role during ovary and testis development

3. CCM2:MEKK3 (zeige MAP3K3 Antikörper)-mediated regulation of Rho-ROCK signalling is required for maintenance of neurovascular integrity, a mechanism by which CCM2 loss leads to disease.

4. Down-modulation of STK25 (zeige STK25 Antikörper), but not STK24 (zeige STK24 Antikörper), rescued medulloblastoma cells from NGF (zeige NGFB Antikörper)-induced TrkA (zeige NTRK1 Antikörper)-dependent cell death, suggesting that STK25 (zeige STK25 Antikörper) is part of the death-signaling pathway initiated by TrkA (zeige NTRK1 Antikörper) and CCM2.

5. The inducible deletion of Ccm2 in adult mice recapitulates the cerebral cavernous malformations-like brain lesions in humans.

6. Developmental timing of CCM2 loss influences cerebral cavernous malformations in mice.

7. Rac1/osmosensing scaffold for MEKK3 contributes via phospholipase C (zeige PLC Antikörper)-gamma1 to activation of the osmoprotective transcription factor NFAT5 (zeige NFAT5 Antikörper).

8. Pdcd10 (zeige PDCD10 Antikörper) has a different role in cerebral cavernous malformation than Ccm2 and Krit1 (zeige KRIT1 Antikörper)

9. The KRIT1 (zeige KRIT1 Antikörper)-CCM2 interaction regulates endothelial junctional stability and vascular barrier function by suppressing activation of the RhoA (zeige RHOA Antikörper)/ROCK signaling pathway.

10. CCM1 (zeige KRIT1 Antikörper) associates with CCM2, indicating that the genetic heterogeneity observed in familial cavernous malformation pathogenesis may reflect mutation of different molecular members of a coordinated signaling complex.

Zebrafish Cerebral Cavernous Malformation 2 (CCM2) Interaktionspartner

1. These findings suggest that CCM2L and CCM2 cooperate to regulate the activity of MEKK3 (zeige MAP3K3 Antikörper).

2. Zebrafish embryos with the recessive lethal mutations santa (san) and valentine (vtn (zeige VTN Antikörper)) do not thicken, but do add the proper number of cells to the myocardium.