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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書誌詳細
主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: National Academy of Sciences 2014
主題:
Biological Sciences
オンライン･アクセス: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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