Ontology highlight
ABSTRACT:
SUBMITTER: Sant'Anna R
PROVIDER: S-EPMC5364509 | biostudies-literature | 2017 Mar
REPOSITORIES: biostudies-literature
Scientific reports 20170324
More than a hundred different Transthyretin (TTR) mutations are associated with fatal systemic amyloidoses. They destabilize the protein tetrameric structure and promote the extracellular deposition of TTR as pathological amyloid fibrils. So far, only mutations R104H and T119M have been shown to stabilize significantly TTR, acting as disease suppressors. We describe a novel A108V non-pathogenic mutation found in a Portuguese subject. This variant is more stable than wild type TTR both in vitro a ...[more]