title: Cerebral cavernous malformations: from CCM genes to endothelial cell homeostasis.
abstract: Cerebral cavernous malformations (CCMs) are vascular lesions that can occur sporadically or as a consequence of inherited loss-of-function mutations, predominantly in the genes CCM1 (KRIT1), CCM2 (MGC4607, OSM, Malcavernin), or CCM3 (PDCD10, TFAR15). Inherited, familial CCM is characterized by the development of multiple lesions throughout a patient's life leading to recurrent cerebral hemorrhages. Recently, roles for the CCM proteins in maintaining vascular barrier functions and quiescence have been elucidated, and in this review we summarize the genetics and pathophysiology of this disease and discuss the molecular mechanisms through which CCM proteins may act within blood vessels.
authors.affiliation: Vascular Signaling and Cancer (A270), German Cancer Research Center Heidelberg (DKFZ-ZMBH Alliance), Im Neuenheimer Feld 280, D-69120 Heidelberg, Germany. a.fischer@dkfz.de
authors.forename: Andreas
authors.initials: A
authors.lastname: Fischer
authors.forename: Juan
authors.initials: J
authors.lastname: Zalvide
authors.forename: Eva
authors.initials: E
authors.lastname: Faurobert
authors.forename: Corinne
authors.initials: C
authors.lastname: Albiges-Rizo
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Tournier-Lasserve
mesh_terms: D000818:Animals; D051017:Apoptosis Regulatory Proteins / Q000235:genetics / Q000378:metabolism; D002352:Carrier Proteins / Q000235:genetics / Q000378:metabolism; D002490:Central Nervous System / Q000378:metabolism / Q000473:pathology; D042783:Endothelial Cells / Q000378:metabolism; D020786:Hemangioma, Cavernous, Central Nervous System / Q000209:etiology* / Q000473:pathology*; D006706:Homeostasis / Q000235:genetics; D006801:Humans; D000075927:KRIT1 Protein; D008565:Membrane Proteins / Q000235:genetics / Q000378:metabolism; D008869:Microtubule-Associated Proteins / Q000235:genetics / Q000378:metabolism; D009389:Neovascularization, Pathologic / Q000235:genetics / Q000378:metabolism; D011518:Proto-Oncogene Proteins / Q000235:genetics / Q000378:metabolism
chemical_list: D051017:Apoptosis Regulatory Proteins; C502544:CCM2 protein, human; D002352:Carrier Proteins; D000075927:KRIT1 Protein; C107928:KRIT1 protein, human; D008565:Membrane Proteins; D008869:Microtubule-Associated Proteins; C495390:PDCD10 protein, human; D011518:Proto-Oncogene Proteins