Article
Cytochrome P450 and matrix metalloproteinase genetic modifiers of disease severity in Cerebral Cavernous Malformation type 1.
Free radical biology & medicine - 1 Mar 2016
Choquet Hélène, Trapani Eliana, Goitre Luca, Trabalzini Lorenza, Akers Amy, Fontanella Marco, Hart Blaine L, Morrison Leslie A, Pawlikowska Ludmila, Kim Helen, Retta Saverio Francesco
Abstract excerpt
BACKGROUND: Familial Cerebral Cavernous Malformation type 1 (CCM1) is an autosomal dominant disease caused by mutations in the Krev Interaction Trapped 1 (KRIT1/CCM1) gene, and characterized by multiple brain lesions. CCM lesions manifest across a range of different phenotypes, including wide differences in lesion number, size and susceptibility to intracerebral hemorrhage (ICH). Oxidative stress plays an...
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