Results 241 to 250 of about 33,090 (271)

Prion protein genes and prion diseases: studies in transgenic mice

Neuropathology and Applied Neurobiology, 2000
In the past decade, manipulation of PrP genes by transgenesis in mice has provided important insights into mechanisms of prion propagation and the molecular basis of prion strains and species barriers. Despite these advances, our understanding of these unique pathogens is far from complete.
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Deletions in the prion protein gene are not associated with CJD

Human Molecular Genetics, 1993
The human prion diseases (spongiform encephalopathies) Creutzfeldt-Jakob disease (CJD) and Gerstmann-Sträussler syndrome (GSS), are neurodegenerative disorders characterised by the accumulation of an abnormal isoform of the prion protein. The normal prion protein is a phosphatidyl inositol anchored, membrane bound sialoglycoprotein of widespread tissue
M S, Palmer, S P, Mahal, T A, Campbell, A F, Hill, K C, Sidle, J L, Laplanche, J, Collinge   +6 more
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A novel mutation (G114V) in the prion protein gene in a family with inherited prion disease

Neurology, 2005
Inherited prion diseases are characterized by mutations in the PRNP gene encoding the prion protein (PrP). We report a novel missense mutation in the PRNP gene (resulting in a G114V mutation in PrP) in members of a Uruguayan family with clinical and histopathologic features of prion disease.
M-M, Rodriguez, K, Peoc'h, S, Haïk, C, Bouchet, L, Vernengo, G, Mañana, R, Salamano, L, Carrasco, M, Lenne, P, Beaudry, J-M, Launay, J-L, Laplanche   +11 more
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Amyloid diseases of yeast: prions are proteins acting as genes

Essays in Biochemistry, 2014
The unusual genetic properties of the non-chromosomal genetic elements [URE3] and [PSI+] led to them being identified as prions (infectious proteins) of Ure2p and Sup35p respectively. Ure2p and Sup35p, and now several other proteins, can form amyloid, a linear ordered polymer of protein monomers, with a part of each molecule, the prion domain, forming ...
Reed B, Wickner, Herman K, Edskes, David A, Bateman, Amy C, Kelly, Anton, Gorkovskiy, Yaron, Dayani, Albert, Zhou   +6 more
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Prion Protein Genes: Evolutionary and Functional Aspects

1991
Over the past decade, a wealth of new information about the biological and physical properties as well as genetics of the particle causing scrapie has accumulated. A host-encoded protein denominated prion protein (PrP) is transformed upon infection into a scrapie-specific isoform (PrPSc). Considerable evidence argues that PrPSc is a major and necessary
B, Oesch, D, Westaway, S B, Prusiner
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Prion protein gene polymorphisms in pedigree sheep in Ireland

Research in Veterinary Science, 2001
The development of clinical signs of scrapie in sheep has been linked to polymorphisms in the prion protein (PrP) gene. The most important polymorphisms appear to be at codons 136, 154 and 171. The objective of this study was to investigate polymorphisms at these codons in five native (Belclare, Galway, Wicklow Cheviot, Donegal Blackface Mountain and ...
E, O'Doherty, M, Aherne, S, Ennis, E, Weavers, J F, Roche, T, Sweeney   +5 more
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Linkage of prion protein and scrapie incubation time genes

Cell, 1986
A single gene (Prn-i) that affects scrapie incubation period in mice has been identified. I/LnJ mice have a very long incubation period after inoculation of scrapie prions (200-385 days) and NZW/LacJ mice have a short one (113 +/- 2.8 days). (NZW X I/Ln)F1 hybrid mice had incubation times of 223 +/- 2.8 days indicating longer incubation times were ...
Carlson, G A, Kingsbury, D T, Goodman, P A, Coleman, S, Marshall, S T, DeArmond, S, Westaway, D, Prusiner, S B   +7 more
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Identification of a Promoter Region in the Rat Prion Protein Gene

Biochemical and Biophysical Research Communications, 1996
We have demonstrated the presence of a rat prion protein (RaPrP) gene promoter upstream of multiple initiation sites. A 0.1-kb fragment upstream of the 5'-untranslated region contains specific DNA motifs characteristic of promoter elements including an AP-1 binding site, an inverted CCAAT motif and three inverted Sp-1 binding sites.
K, Saeki, Y, Matsumoto, Y, Matsumoto, T, Onodera   +3 more
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A prion disease with a novel 96-base pair insertional mutation in the prion protein gene

Neurology, 1996
There are coding mutations in the prion protein gene in familial Creutzfeldt-Jakob disease (CJD), Gerstmann-Straussler-Scheinker disease, and other phenotypes that make up the inherited prion diseases. Insertional mutations consisting of two, five, six, seven, eight, and nine additional octapeptide repeat elements are seen in the inherited prion ...
T A, Campbell, M S, Palmer, R G, Will, W R, Gibb, P J, Luthert, J, Collinge   +5 more
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Polymorphisms of the Prion Protein Gene (PRNP) in a Serbian Population

International Journal of Neuroscience, 2010
Prion diseases are a group of etiologically heterogeneous neurodegenerative disorders. We have analyzed the coding region of PRNP gene in 121 healthy citizens of Serbia to determine whether the frequencies of M129V, E219K, and octapeptide repeat number polymorphism.
Dimitrijević, Rajna, Cadez, Ivana, Keckarević-Marković, Milica, Keckarević, Dušan, Kecmanović, Miljana, Dobričić, Valerija, Savić-Pavićević, Dušanka, Brajusković, Goran, Romac, Stanka   +8 more
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