Case Report: Histopathology and Prion Protein Molecular Properties in Inherited Prion Disease With a De Novo Seven-Octapeptide Repeat Insertion

Case Report: Histopathology and Prion Protein Molecular Properties in Inherited Prion Disease With a De Novo Seven-Octapeptide Repeat Insertion

The insertion of additional 168 base pair containing seven octapeptide repeats in the prion protein (PrP) gene region spanning residues 51–91 is associated with inherited prion disease. In 2008, we reported the clinical features of a novel de novo seven-octapeptide repeat insertion (7-OPRI) mutation...

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Bibliographic Details
Main Authors: Ignazio Cali, Laura Cracco, Dario Saracino, Rossana Occhipinti, Cinzia Coppola, Brian Stephen Appleby, Gianfranco Puoti
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-07-01
Series:Frontiers in Cellular Neuroscience
Subjects:
genetic
histopathology
Prion protein (PrP)
insertion mutation
conformation
Online Access:https://www.frontiersin.org/article/10.3389/fncel.2020.00150/full

Internet

https://www.frontiersin.org/article/10.3389/fncel.2020.00150/full

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