NMR Structure of the Human Prion Protein with the Pathological Q212P Mutation Reveals Unique Structural Features

@inproceedings{Ilc2010NMRSO,
  title={NMR Structure of the Human Prion Protein with the Pathological Q212P Mutation Reveals Unique Structural Features},
  author={Gregor Ilc and Gabriele Giachin and Mariusz Jaremko and Łukasz Jaremko and Federico Benetti and Janez Plavec and Igor Zhukov and Giuseppe Legname},
  booktitle={PloS one},
  year={2010}
}
Prion diseases are fatal neurodegenerative disorders caused by an aberrant accumulation of the misfolded cellular prion protein (PrP(C)) conformer, denoted as infectious scrapie isoform or PrP(Sc). In inherited human prion diseases, mutations in the open reading frame of the PrP gene (PRNP) are hypothesized to favor spontaneous generation of PrP(Sc) in specific brain regions leading to neuronal cell degeneration and death. Here, we describe the NMR solution structure of the truncated… CONTINUE READING

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