Unknown

Dataset Information

0

Cerebral Cavernous Malformation Proteins in Barrier Maintenance and Regulation.

ABSTRACT: Cerebral cavernous malformation (CCM) is a disease characterized by mulberry shaped clusters of dilated microvessels, primarily in the central nervous system. Such lesions can cause seizures, headaches, and stroke from brain bleeding. Loss-of-function germline and somatic mutations of a group of genes, called CCM genes, have been attributed to disease pathogenesis. In this review, we discuss the impact of CCM gene encoded proteins on cellular signaling, barrier function of endothelium and epithelium, and their contribution to CCM and potentially other diseases.

SUBMITTER: Wei S 

PROVIDER: S-EPMC7013531 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

Cerebral Cavernous Malformation Proteins in Barrier Maintenance and Regulation.

Wei Shu S   Li Ye Y   Polster Sean P SP   Weber Christopher R CR   Awad Issam A IA   Shen Le L  

International journal of molecular sciences 20200120 2

Cerebral cavernous malformation (CCM) is a disease characterized by mulberry shaped clusters of dilated microvessels, primarily in the central nervous system. Such lesions can cause seizures, headaches, and stroke from brain bleeding. Loss-of-function germline and somatic mutations of a group of genes, called <i>CCM</i> genes, have been attributed to disease pathogenesis. In this review, we discuss the impact of <i>CCM</i> gene encoded proteins on cellular signaling, barrier function of endothel  ...[more]

Similar Datasets

Unknown The cerebral cavernous malformation disease causing gene KRIT1 participates in intestinal epithelial barrier maintenance and regulation.
| S-EPMC6338648 | biostudies-literature
Unknown Cerebral cavernous malformation proteins at a glance.
| S-EPMC3924200 | biostudies-literature
Unknown Postzygotic mosaicism in cerebral cavernous malformation.
| S-EPMC7042965 | biostudies-literature
Proteomics Systems Biology Proteomic Analysis of Cerebral Cavernous Malformation
2014-06-09 | PXD000362 | Pride
Unknown Biomechanics of Endothelial Tubule Formation Differentially Modulated by Cerebral Cavernous Malformation Proteins.
| S-EPMC6240601 | biostudies-literature
Unknown Recent advances in cerebral cavernous malformation research.
| S-EPMC6663315 | biostudies-literature
Unknown Role of cytoskeletal proteins in cerebral cavernous malformation signaling pathways: a proteomic analysis.
| S-EPMC4043921 | biostudies-literature
Unknown Dynamic regulation of the cerebral cavernous malformation pathway controls vascular stability and growth.
| S-EPMC3743537 | biostudies-literature
Other Cerebral Cavernous Malformation Plasma Samples
2019-06-11 | MSV000083955 | MassIVE
Unknown Cerebral cavernous malformation: new molecular and clinical insights.
| S-EPMC2564569 | biostudies-literature