Article
In vivo studies of mutant fibrillin-1 microfibrils.
The Journal of biological chemistry - 6 Aug 2010
Charbonneau Noe L, Carlson Eric J, Tufa Sara, Sengle Gerhard, Manalo Elise C, Carlberg Valerie M, Ramirez Francesco, Keene Douglas R, Sakai Lynn Y
Abstract excerpt
In humans, mutations in fibrillin-1 result in a variety of genetic disorders with distinct clinical phenotypes. While most of the known mutations in fibrillin-1 cause Marfan syndrome, a number of other mutations lead to clinical features unrelated to Marfan syndrome. Pathogenesis of Marfan syndrome is currently thought to be driven by mechanisms due to haploinsufficiency of wild-type fibrillin-1. However,...
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