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Cavity filling mutations at the thyroxine-binding site dramatically increase transthyretin stability and prevent its aggregation

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 sta...

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Dettagli Bibliografici
Pubblicato in:Sci Rep
Autori principali: Sant’Anna, Ricardo, Almeida, Maria Rosário, Varejāo, Nathalia, Gallego, Pablo, Esperante, Sebastian, Ferreira, Priscila, Pereira-Henriques, Alda, Palhano, Fernando L., de Carvalho, Mamede, Foguel, Debora, Reverter, David, Saraiva, Maria João, Ventura, Salvador
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2017
Soggetti:
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5364509/
https://ncbi.nlm.nih.gov/pubmed/28338000
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep44709
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