Publications:

A novel hotspot of gelsolin instability triggers an alternative mechanism of amyloid aggregation.

Computational And Structural Biotechnology Journal

Bollati, Michela M; Diomede, Luisa L; Giorgino, Toni T; Natale, Carmina C; Fagnani, Elisa E; Boniardi, Irene I; Barbiroli, Alberto A; Alemani, Rebecca R; Beeg, Marten M; Gobbi, Marco M; Fakin, Ana A; Mastrangelo, Eloise E; Milani, Mario M; Presciuttini, Gianluca G; Gabellieri, Edi E; Cioni, Patrizia P; de Rosa, Matteo M

Publication Date: 2021

Variant appearance in text: HP: N184K

PubMed Link: 34938411

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

Gelsolin pathogenic Gly167Arg mutation promotes domain-swap dimerization of the protein.

Human Molecular Genetics

Bonì, Francesco F; Milani, Mario M; Barbiroli, Alberto A; Diomede, Luisa L; Mastrangelo, Eloise E; de Rosa, Matteo M

Publication Date: 2018-01-01

Variant appearance in text: HP: Asn184Lys

PubMed Link: 29069428

Variant Present in the following documents:

• Main text
• ddx383.pdf

View BVdb publication page