title: Structure of Monomeric Transthyretin Carrying the Clinically Important T119M Mutation.
abstract: Mutations in the protein transthyretin can cause as well as protect individuals from transthyretin amyloidosis, an incurable fatal inherited disease. Little is known, however, about the structural basis of pathogenic and clinically protective transthyretin mutants. Here we determined the solution structure of a transthyretin monomer that carries the clinically important T119M mutation. The structure displays a non-native arrangement that is distinct from all known structures of transthyretin and highlights the importance of high-resolution studies in solution for understanding molecular processes that lead to amyloid diseases.
authors.affiliation: Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE), Von-Siebold-Strasse 3a, 37075, Göttingen, Germany.
authors.forename: Jin Hae
authors.initials: JH
authors.lastname: Kim
authors.affiliation: Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE), Von-Siebold-Strasse 3a, 37075, Göttingen, Germany.
authors.forename: Javier
authors.identifier: 0000-0003-2687-3013
authors.initials: J
authors.lastname: Oroz
authors.affiliation: Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE), Von-Siebold-Strasse 3a, 37075, Göttingen, Germany.|Max-Planck-Institut für Biophysikalische Chemie, Am Fassberg 11, 37077, Göttingen, Germany.|Department of Neurology, University Medical Center Göttingen, University of Göttingen, Waldweg 33, 37073, Göttingen, Germany.
authors.forename: Markus
authors.identifier: 0000-0002-2536-6581
authors.initials: M
authors.lastname: Zweckstetter
mesh_terms: D006801:Humans; D008958:Models, Molecular; D009154:Mutation; D019906:Nuclear Magnetic Resonance, Biomolecular; D011228:Prealbumin / Q000737:chemistry* / Q000235:genetics*; D011487:Protein Conformation
chemical_list: D011228:Prealbumin
keywords: NMR spectroscopy; protein structures; transthyretin