Article
Gelsolin pathogenic Gly167Arg mutation promotes domain-swap dimerization of the protein.
Human molecular genetics - 1 Jan 2018
Bonì Francesco, Milani Mario, Barbiroli Alberto, Diomede Luisa, Mastrangelo Eloise, de Rosa Matteo
Abstract excerpt
AGel amyloidosis is a genetic degenerative disease characterized by the deposition of insoluble gelsolin protein aggregates in different tissues. Until recently, this disease was associated with two mutations of a single residue (Asp187 to Asn/Tyr) in the second domain of the protein. The general opinion is that pathogenic variants are not per se amyloidogenic but rather that the mutations trigger an aberrant...
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