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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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Bibliografische gegevens
Gepubliceerd in:Sci Rep
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Nature Publishing Group 2017
Onderwerpen:
Online toegang: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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