Linkage of a prion protein missense variant to Gerstmann-Sträussler syndrome.
about
The genetic epidemiology of neurodegenerative disease.Conversion of alpha-helices into beta-sheets features in the formation of the scrapie prion proteinsPrion hypothesis: the end of the controversy?PrionsA novel human disease with abnormal prion protein sensitive to proteasePrion diseases: immunotargets and therapyAlternate centromere inactivation in a pseudodicentric (15;20)(pter;pter) associated with a progressive neurological disorderChanging a single amino acid in the N-terminus of murine PrP alters TSE incubation time across three species barriers.Effects of the mutations Ala30 to Pro and Ala53 to Thr on the physical and morphological properties of alpha-synuclein protein implicated in Parkinson's diseasePrions in Saccharomyces and Podospora spp.: protein-based inheritance.Prion amyloid structure explains templating: how proteins can be genes.Distinct PrP properties suggest the molecular basis of strain variation in transmissible mink encephalopathy.Human prion diseases in the Netherlands (1998-2009): clinical, genetic and molecular aspects.De novo generation of a transmissible spongiform encephalopathy by mouse transgenesisA Drosophila model of GSS syndrome suggests defects in active zones are responsible for pathogenesis of GSS syndrome.Creutzfeldt-Jakob disease segregating in a three generation Danish family.Nitrosative cytosine deamination. An exploration of the chemistry emanating from deamination with pyrimidine ring-opening.Genomic structure of the human prion protein gene.Evidence for a pathogenic role of different mutations at codon 188 of PRNPEnhancement of allele discrimination by introduction of nucleotide mismatches into siRNA in allele-specific gene silencing by RNAi.Two alleles of a neural protein gene linked to scrapie in sheep.Discovery of 2-aminothiazoles as potent antiprion compounds.Unexpected tolerance of alpha-cleavage of the prion protein to sequence variationsBiology and genetics of prions causing neurodegenerationNeurodegeneration in humans caused by prionsThe spongiform encephalopathies.Gerstmann-Sträussler-Scheinker disease in an Alsatian family: clinical and genetic studies.Clinical heterogeneity and unusual presentations of Creutzfeldt-Jakob disease in Jewish patients with the PRNP codon 200 mutation.Genetic studies in human prion diseases.A receptor for infectious and cellular prion protein.Attempts to convert the cellular prion protein into the scrapie isoform in cell-free systems.Inherited Creutzfeldt-Jakob disease in a British family associated with a novel 144 base pair insertion of the prion protein gene.Conservation of infectivity in purified fibrillary extracts of scrapie-infected hamster brain after sequential enzymatic digestion or polyacrylamide gel electrophoresisPredictive testing for inherited prion disease: report of 22 years experience.Immunodetection of disease-associated mutant PrP, which accelerates disease in GSS transgenic mice.Absence of spontaneous disease and comparative prion susceptibility of transgenic mice expressing mutant human prion proteinsBiochemical and physical properties of the prion protein from two strains of the transmissible mink encephalopathy agent.Cerebral amyloidosis in prion diseases.Creutzfeldt-Jakob disease and the eye. I. Background and patient management.Transmissible spongiform encephalopathies in humans: kuru, Creutzfeldt-Jakob disease and Gerstmann-Sträussler-Scheinker disease
P2860
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P2860
Linkage of a prion protein missense variant to Gerstmann-Sträussler syndrome.
description
1989 nî lūn-bûn
@nan
1989年の論文
@ja
1989年学术文章
@wuu
1989年学术文章
@zh
1989年学术文章
@zh-cn
1989年学术文章
@zh-hans
1989年学术文章
@zh-my
1989年学术文章
@zh-sg
1989年學術文章
@yue
1989年學術文章
@zh-hant
name
Linkage of a prion protein missense variant to Gerstmann-Sträussler syndrome.
@en
Linkage of a prion protein missense variant to Gerstmann-Sträussler syndrome.
@nl
type
label
Linkage of a prion protein missense variant to Gerstmann-Sträussler syndrome.
@en
Linkage of a prion protein missense variant to Gerstmann-Sträussler syndrome.
@nl
prefLabel
Linkage of a prion protein missense variant to Gerstmann-Sträussler syndrome.
@en
Linkage of a prion protein missense variant to Gerstmann-Sträussler syndrome.
@nl
P2093
P356
P1433
P1476
Linkage of a prion protein missense variant to Gerstmann-Sträussler syndrome.
@en
P2093
Terwilliger JD
Westaway D
P2888
P304
P356
10.1038/338342A0
P407
P577
1989-03-01T00:00:00Z
P5875
P6179
1051275365