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Gerstmann-Sträussler-Scheinker disease subtypes efficiently transmit in bank voles as genuine prion diseases
Gerstmann-Sträussler-Scheinker disease (GSS) is an inherited neurodegenerative disorder associated with mutations in the prion protein gene and accumulation of misfolded PrP with protease-resistant fragments (PrP(res)) of 6–8 kDa. With the exception of a few GSS cases characterized by co-accumulatio...
Autores principales: | , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4740801/ https://www.ncbi.nlm.nih.gov/pubmed/26841849 http://dx.doi.org/10.1038/srep20443 |
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author | Pirisinu, Laura Di Bari, Michele A. D’Agostino, Claudia Marcon, Stefano Riccardi, Geraldina Poleggi, Anna Cohen, Mark L. Appleby, Brian S. Gambetti, Pierluigi Ghetti, Bernardino Agrimi, Umberto Nonno, Romolo |
author_facet | Pirisinu, Laura Di Bari, Michele A. D’Agostino, Claudia Marcon, Stefano Riccardi, Geraldina Poleggi, Anna Cohen, Mark L. Appleby, Brian S. Gambetti, Pierluigi Ghetti, Bernardino Agrimi, Umberto Nonno, Romolo |
author_sort | Pirisinu, Laura |
collection | PubMed |
description | Gerstmann-Sträussler-Scheinker disease (GSS) is an inherited neurodegenerative disorder associated with mutations in the prion protein gene and accumulation of misfolded PrP with protease-resistant fragments (PrP(res)) of 6–8 kDa. With the exception of a few GSS cases characterized by co-accumulation of PrP(res) of 21 kDa, efforts to transmit GSS to rodents have been unsuccessful. As a result, GSS subtypes exclusively associated with 6–8 kDa PrP(res) have often been considered as non-transmissible proteinopathies rather than true prion diseases. We show that GSS with P102L, A117V and F198S mutations transmit efficiently and produce distinct pathological phenotypes in bank voles (M. glareolus), irrespective of the presence of 21 kDa PrP(res) in the inoculum, demonstrating that GSS is a genuine prion disease characterized by both transmissibility and strain variation. |
format | Online Article Text |
id | pubmed-4740801 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | Nature Publishing Group |
record_format | MEDLINE/PubMed |
spelling | pubmed-47408012016-02-09 Gerstmann-Sträussler-Scheinker disease subtypes efficiently transmit in bank voles as genuine prion diseases Pirisinu, Laura Di Bari, Michele A. D’Agostino, Claudia Marcon, Stefano Riccardi, Geraldina Poleggi, Anna Cohen, Mark L. Appleby, Brian S. Gambetti, Pierluigi Ghetti, Bernardino Agrimi, Umberto Nonno, Romolo Sci Rep Article Gerstmann-Sträussler-Scheinker disease (GSS) is an inherited neurodegenerative disorder associated with mutations in the prion protein gene and accumulation of misfolded PrP with protease-resistant fragments (PrP(res)) of 6–8 kDa. With the exception of a few GSS cases characterized by co-accumulation of PrP(res) of 21 kDa, efforts to transmit GSS to rodents have been unsuccessful. As a result, GSS subtypes exclusively associated with 6–8 kDa PrP(res) have often been considered as non-transmissible proteinopathies rather than true prion diseases. We show that GSS with P102L, A117V and F198S mutations transmit efficiently and produce distinct pathological phenotypes in bank voles (M. glareolus), irrespective of the presence of 21 kDa PrP(res) in the inoculum, demonstrating that GSS is a genuine prion disease characterized by both transmissibility and strain variation. Nature Publishing Group 2016-02-04 /pmc/articles/PMC4740801/ /pubmed/26841849 http://dx.doi.org/10.1038/srep20443 Text en Copyright © 2016, Macmillan Publishers Limited http://creativecommons.org/licenses/by/4.0/ This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ |
spellingShingle | Article Pirisinu, Laura Di Bari, Michele A. D’Agostino, Claudia Marcon, Stefano Riccardi, Geraldina Poleggi, Anna Cohen, Mark L. Appleby, Brian S. Gambetti, Pierluigi Ghetti, Bernardino Agrimi, Umberto Nonno, Romolo Gerstmann-Sträussler-Scheinker disease subtypes efficiently transmit in bank voles as genuine prion diseases |
title | Gerstmann-Sträussler-Scheinker disease subtypes efficiently transmit in bank voles as genuine prion diseases |
title_full | Gerstmann-Sträussler-Scheinker disease subtypes efficiently transmit in bank voles as genuine prion diseases |
title_fullStr | Gerstmann-Sträussler-Scheinker disease subtypes efficiently transmit in bank voles as genuine prion diseases |
title_full_unstemmed | Gerstmann-Sträussler-Scheinker disease subtypes efficiently transmit in bank voles as genuine prion diseases |
title_short | Gerstmann-Sträussler-Scheinker disease subtypes efficiently transmit in bank voles as genuine prion diseases |
title_sort | gerstmann-sträussler-scheinker disease subtypes efficiently transmit in bank voles as genuine prion diseases |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4740801/ https://www.ncbi.nlm.nih.gov/pubmed/26841849 http://dx.doi.org/10.1038/srep20443 |
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