Article
A novel transthyretin variant p.H110D (H90D) as a cause of familial amyloid polyneuropathy in a large Irish kindred.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis - 1 Mar 2015
Jimenez-Zepeda Victor H, Bahlis Nizar J, Gilbertson Janet, Rendell Nigel, Porcari Riccardo, Lachmann Helen J, Gillmore Julian D, Hawkins Philip N, Rowczenio Dorota M
Abstract excerpt
Hereditary transthyretin (ATTR) amyloidosis is caused by inheritance of an abnormal TTR gene in an autosomal dominant fashion. In its native state, TTR is a homotetramer consisting of four identical polypeptides. Mutations in the TTR gene contribute to destabilization and dissociation of the TTR tetramer, enabling abnormally folded monomers to self-assemble as amyloid fibrils. Currently, over 120 TTR variants...
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