Article
Molecular basis of a novel renal amyloidosis due to N184K gelsolin variant.
Scientific reports - 16 Sept 2016
Bonì Francesco, Milani Mario, Porcari Riccardo, Barbiroli Alberto, Ricagno Stefano, de Rosa Matteo
Abstract excerpt
Mutations in gelsolin are responsible for a systemic amyloidosis first described in 1969. Until recently, the disease was associated with two substitutions of the same residue, leading to the loss of the calcium binding site. Novel interest arose in 2014 when the N184K variant of the protein was identified as the etiological agent of a novel kidney-localized amyloidosis. Here we provide a first rationale for...
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