2013
DOI: 10.18632/aging.100543
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Abstract: Insertion of 144-base pair (bp) containing six extra octapeptide repeats between residues 51 and 91 of prion protein (PrP) gene is associated with inherited prion diseases. Most cases linked to this insertion examined by Western blotting showed detectable proteinase K-resistant PrPSc (rPrPSc) resembling PrPSc type 1 and type 2 in sporadic Creutzfeldt-Jakob disease (sCJD), or PrP7-8 in Gerstmann-Sträussler-Scheinker disease. However, cases lacking detectable rPrPSc also have been reported. Which PrP conformer i… Show more

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Cited by 14 publications
(16 citation statements)
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References 73 publications
(128 reference statements)
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“…Since then, PrP Sc was established as the “gold standard” marker of prion infection and its presence in scrapie infected sheep, BSE infected cattle and in humans suffering from Creutzfeldt-Jacob disease (CJD) was used to confirm a prion disease diagnosis [2], [3], while in its absence such a verdict is mostly ruled out [4], [5], [6]. However, classical PrP Sc could not be detected in brains of patients suffering from some forms of genetic prion diseases [5], [7], [8], which are autosomal dominant disorders linked to mutations in the gene encoding the prion protein (PrP) [9] [10]. PrP Sc is also undetected or present at marginal levels in the brains of most transgenic mice modeling for genetic prion diseases [11] [12] [13] [14] [15] [16].…”
Section: Introductionmentioning
confidence: 99%
“…Since then, PrP Sc was established as the “gold standard” marker of prion infection and its presence in scrapie infected sheep, BSE infected cattle and in humans suffering from Creutzfeldt-Jacob disease (CJD) was used to confirm a prion disease diagnosis [2], [3], while in its absence such a verdict is mostly ruled out [4], [5], [6]. However, classical PrP Sc could not be detected in brains of patients suffering from some forms of genetic prion diseases [5], [7], [8], which are autosomal dominant disorders linked to mutations in the gene encoding the prion protein (PrP) [9] [10]. PrP Sc is also undetected or present at marginal levels in the brains of most transgenic mice modeling for genetic prion diseases [11] [12] [13] [14] [15] [16].…”
Section: Introductionmentioning
confidence: 99%
“…Thermolysin has previously been shown to digest PrP C leaving both PK sensitive and resistant PrP Sc isoforms undigested [ 20 ]. The concept that some PrP deposits may contain PK-sensitive PrP is further supported by recent observations in a genetic prion disease case carrying a 144 base pair insertion [ 44 ]. There are further immunostaining patterns associated with non-PrDs that are thought to represent PrP C [ 45 , 46 ].…”
Section: Discussionmentioning
confidence: 91%
“…Finally, gCJD linked to 5‐ and 6‐octapeptide repeat insertional (5‐ and 6‐OPRI) mutations, at variance with sCJD, is often characterized by relatively moderate spongiform change despite the long disease duration (usually >5 years) or even by the lack of distinctive histopathology (ie, no spongiform change and no amyloid PrP Sc plaques) . Nevertheless, PrP Sc type 1 or 2 is detected in all these cases as in sCJD .…”
Section: Phenotypic Spectrum and Classification Of Disease Subtypesmentioning
confidence: 99%