Ontology highlight
ABSTRACT:
SUBMITTER: Page LJ
PROVIDER: S-EPMC2708763 | biostudies-literature | 2009 Jul
REPOSITORIES: biostudies-literature
Page Lesley J LJ Suk Ji Young JY Bazhenova Lyudmila L Fleming Sheila M SM Wood Malcolm M Jiang Yun Y Guo Ling T LT Mizisin Andrew P AP Kisilevsky Robert R Shelton G Diane GD Balch William E WE Kelly Jeffery W JW
Proceedings of the National Academy of Sciences of the United States of America 20090619 27
Familial amyloidosis of Finnish type (FAF) is a systemic amyloid disease associated with the deposition of proteolytic fragments of mutant (D187N/Y) plasma gelsolin. We report a mouse model of FAF featuring a muscle-specific promoter to drive D187N gelsolin synthesis. This model recapitulates the aberrant endoproteolytic cascade and the aging-associated extracellular amyloid deposition of FAF. Amyloidogenesis is observed only in tissues synthesizing human D187N gelsolin, despite the presence of ...[more]