Article
Loss of a metal-binding site in gelsolin leads to familial amyloidosis-Finnish type.
Nature structural biology - 1 Feb 2002
Kazmirski Steven L, Isaacson Rivka L, An Chahm, Buckle Ashley, Johnson Christopher M, Daggett Valerie, Fersht Alan R
Abstract excerpt
Mutations in domain 2 (D2, residues 151-266) of the actin-binding protein gelsolin cause familial amyloidosis-Finnish type (FAF). These mutations, D187N or D187Y, lead to abnormal proteolysis of plasma gelsolin at residues 172-173 and a second hydrolysis at residue 243, resulting in an amyloidogenic fragment. Here we present the structure of human gelsolin D2 at 1.65 A and find that Asp 187 is part of a Cd2+...
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