Article
Pathological, biochemical, and biophysical characteristics of the transthyretin variant Y114H (p.Y134H) explain its very mild clinical phenotype.
Journal of the peripheral nervous system : JPNS - 1 Dec 2015
Sekijima Yoshiki, Campos Raúl I, Hammarström Per, Nilsson K Peter R, Yoshinaga Tsuneaki, Nagamatsu Kiyoshiro, Yazaki Masahide, Kametani Fuyuki, Ikeda Shu-ichi
Abstract excerpt
Transthyretin (TTR) is a homotetrameric protein that must misfold in order to form amyloid fibrils. Misfolding includes rate limiting tetramer dissociation, followed by fast tertiary structural changes of the monomer that enable aggregation. Hereditary ATTR amyloidosis is an autosomal dominant genetic disorder with systemic deposition of amyloid fibrils induced by TTR gene mutation. We identified a rare Y114H...
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