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Recent insights into cerebral cavernous malformations: animal models of CCM and the human phenotype Chan AC; Li DY; Berg MJ; Whitehead KJFEBS J 2010[Mar]; 277 (5): 1076-83Cerebral cavernous malformations are common vascular lesions of the central nervous system that predispose to seizures, focal neurologic deficits and potentially fatal hemorrhagic stroke. Human genetic studies have identified three genes associated with the disease and biochemical studies of these proteins have identified interaction partners and possible signaling pathways. A variety of animal models of CCM have been described to help translate the cellular and biochemical insights into a better understanding of disease mechanism. In this minireview, we discuss the contributions of animal models to our growing understanding of the biology of cavernous malformations, including the elucidation of the cellular context of CCM protein actions and the in vivo confirmation of abnormal endothelial cell-cell interactions. Challenges and progress towards developing a faithful model of CCM biology are reviewed.|*Hemangioma, Cavernous, Central Nervous System/genetics/physiopathology[MESH]|*Phenotype[MESH]|Animals[MESH]|Disease Models, Animal[MESH]|Genetic Predisposition to Disease[MESH]|Humans[MESH]|KRIT1 Protein[MESH]|Microfilament Proteins/genetics[MESH]|Microtubule-Associated Proteins/*genetics[MESH]|Proto-Oncogene Proteins/*genetics[MESH]|Zebrafish[MESH] |
