A novel Gerstmann-Sträussler-Scheinker disease mutation defines a precursor for amyloidogenic 8 kDa PrP fragments and reveals N-terminal structural changes shared by other GSS alleles

To explore pathogenesis in a young Gerstmann-Sträussler-Scheinker Disease (GSS) patient, the corresponding mutation, an eight-residue duplication in the hydrophobic region (HR), was inserted into the wild type mouse PrP gene. Transgenic (Tg) mouse lines expressing this mutation (Tg.HRdup) developed...

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Detalles Bibliográficos
Autores principales: Mercer, Robert C. C., Daude, Nathalie, Dorosh, Lyudmyla, Fu, Ze-Lin, Mays, Charles E., Gapeshina, Hristina, Wohlgemuth, Serene L., Acevedo-Morantes, Claudia Y., Yang, Jing, Cashman, Neil R., Coulthart, Michael B., Pearson, Dawn M., Joseph, Jeffrey T., Wille, Holger, Safar, Jiri G., Jansen, Gerard H., Stepanova, Maria, Sykes, Brian D., Westaway, David
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5786331/
https://www.ncbi.nlm.nih.gov/pubmed/29338055
http://dx.doi.org/10.1371/journal.ppat.1006826

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5786331/
https://www.ncbi.nlm.nih.gov/pubmed/29338055
http://dx.doi.org/10.1371/journal.ppat.1006826

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