Proteolytic cleavage of Ser52Pro variant transthyretin triggers its amyloid fibrillogenesis

The Ser52Pro variant of transthyretin (TTR) produces aggressive, highly penetrant, autosomal-dominant systemic amyloidosis in persons heterozygous for the causative mutation. Together with a minor quantity of full-length wild-type and variant TTR, the main component of the ex vivo fibrils was the re...

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Hlavní autoři: Mangione, P. Patrizia, Porcari, Riccardo, Gillmore, Julian D., Pucci, Piero, Monti, Maria, Porcari, Mattia, Giorgetti, Sofia, Marchese, Loredana, Raimondi, Sara, Serpell, Louise C., Chen, Wenjie, Relini, Annalisa, Marcoux, Julien, Clatworthy, Innes R., Taylor, Graham W., Tennent, Glenys A., Robinson, Carol V., Hawkins, Philip N., Stoppini, Monica, Wood, Stephen P., Pepys, Mark B., Bellotti, Vittorio
Médium: Artigo
Jazyk:Inglês
Vydáno: National Academy of Sciences 2014
Témata:
Biological Sciences
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3910611/
https://ncbi.nlm.nih.gov/pubmed/24474780
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1317488111
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