Article
Proteolytic cleavage of Ser52Pro variant transthyretin triggers its amyloid fibrillogenesis.
Proceedings of the National Academy of Sciences of the United States of America - 28 Jan 2014
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
Abstract excerpt
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 residue 49-127 fragment of the TTR variant, the portion of the TTR sequence that previously has been reported to be...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.