Article
BIGH3 (TGFBI) Arg124 mutations influence the amyloid conversion of related peptides in vitro.
European journal of biochemistry - 1 Nov 2002
Schmitt-Bernard Clair-Florent, Chavanieu Alain, Herrada Gudrun, Subra Guy, Arnaud Bernard, Demaille Jacques G, Calas Bernard, Argilés Angel
Abstract excerpt
Amyloid deposits with Arg124 mutated TGFBI protein have been identified in autosomal dominant blinding corneal dystrophies. We assessed in vitro the mechanisms determining TGFBI protein amyloid transformation involving mutations of Arg124. Eight peptides synthesized following the TGFBI protein sequence, centered on codon Arg124 holding the previously reported amyloidogenic mutations and the respective controls...
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