KRIT1 loss-of-function induces a sustained Nrf2-mediated adaptive homeostasis that sensitizes cells to oxidative stress: implication for Cerebral Cavernous Malformation disease

2018 ◽  
Vol 120 ◽  
pp. S129
Author(s):  
Andrea Perrelli ◽  
Eliana Trapani ◽  
Cinzia Antognelli ◽  
Simona Delle Monache ◽  
Claudia Fornelli ◽  
...  
Keyword(s):  
Oxidative Stress ◽  
Cavernous Malformation ◽  
Cerebral Cavernous Malformation ◽  
Loss Of Function

scholarly journals Cerebral Cavernous Malformation Proteins in Barrier Maintenance and Regulation

2020 ◽  
Vol 21 (2) ◽  
pp. 675 ◽  
Author(s):  
Shu Wei ◽  
Ye Li ◽  
Sean P. Polster ◽  
Christopher R. Weber ◽  
Issam A. Awad ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Barrier Function ◽  
Somatic Mutations ◽  
Cavernous Malformation ◽  
Cerebral Cavernous Malformation ◽  
Loss Of Function ◽  
Disease Pathogenesis ◽  
The Central Nervous System ◽  
The Impact

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.

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