Article
Elucidating the mechanism of familial amyloidosis- Finnish type: NMR studies of human gelsolin domain 2.
Proceedings of the National Academy of Sciences of the United States of America - 26 Sept 2000
Kazmirski S L, Howard M J, Isaacson R L, Fersht A R
Abstract excerpt
Familial amyloidosis-Finnish type (FAF) results from a single mutation at residue 187 (D187N or D187Y) within domain 2 of the actin-regulating protein gelsolin. The mutation somehow allows a masked cleavage site to be exposed, leading to the first step in the formation of an amyloidogenic fragment. We have performed NMR experiments investigating structural and dynamic changes between wild-type (WT) and D187N...
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