Associated Papers
Genetic causes and modifiers of prion diseases.
Mead S et al.
The Lancet. Neurology, 2026
Neuropathologically directed profiling of PRNP somatic and germline variants in sporadic human prion disease.
McDonough GA et al.
Acta Neuropathologica, 2024
SIGMA leverages protein structural information to predict the pathogenicity of missense variants.
Zhao H et al.
Cell Reports Methods, 2024
Genetic Factors in Mammalian Prion Diseases.
Mead S et al.
Annual Review of Genetics, 2019
Absence of single nucleotide polymorphisms (SNPs) in the open reading frame (ORF) of the prion protein gene (PRNP) in a large sampling of various chicken breeds.
Kim YC et al.
Bmc Genomics, 2019
Clinical and neuropathological phenotype associated with the novel V189I mutation in the prion protein gene.
Di Fede G et al.
Acta Neuropathologica Communications, 2019
Analysis of the prion protein gene in multiple system atrophy.
Chelban V et al.
Neurobiology of Aging, 2017
Methods for Molecular Diagnosis of Human Prion Disease.
Wadsworth JDF et al.
Methods in Molecular Biology (clifton, N.j.), 2017
Transgenic mice recapitulate the phenotypic heterogeneity of genetic prion diseases without developing prion infectivity: Role of intracellular PrP retention in neurotoxicity.
Chiesa R et al.
Prion, 2016
Do prion protein gene polymorphisms induce apoptosis in non-mammals?
Birkan T et al.
Journal of Biosciences, 2016
The prion protein gene polymorphisms associated with bovine spongiform encephalopathy susceptibility differ significantly between cattle and buffalo.
Zhao H et al.
Infection, Genetics and Evolution : Journal of Molecular Epidemiology and Evolutionary Genetics in Infectious Diseases, 2015
Probing early misfolding events in prion protein mutants by NMR spectroscopy.
Giachin G et al.
Molecules (basel, Switzerland), 2013
Genetics of prion diseases.
Lloyd SE et al.
Current Opinion in Genetics & Development, 2013
The landscape of the prion protein's structural response to mutation revealed by principal component analysis of multiple NMR ensembles.
Gendoo DM et al.
Plos Computational Biology, 2012
Strain specific resistance to murine scrapie associated with a naturally occurring human prion protein polymorphism at residue 171.
Striebel JF et al.
Plos Pathogens, 2011
Mutation directional selection sheds light on prion pathogenesis.
Shen L et al.
Biochemical and Biophysical Research Communications, 2011
[Genetic background of inherited multiple pituitary hormone deficiency. Mutations of PROP1 gene in Hungary].
Halász Z
Orvosi Hetilap, 2011
The prion diseases.
Brown K et al.
Journal of Geriatric Psychiatry and Neurology, 2010
PRNP allelic series from 19 years of prion protein gene sequencing at the MRC Prion Unit.
Beck JA et al.
Human Mutation, 2010
PRNP haplotype distribution in Moroccan goats.
Serrano C et al.
Animal Genetics, 2009
Genetic susceptibility, evolution and the kuru epidemic.
Mead S et al.
Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2008
Searching for factors that distinguish disease-prone and disease-resistant prions via sequence analysis.
Kedarisetti KD et al.
Bioinformatics and Biology Insights, 2008
Molecular diagnosis of human prion disease.
Wadsworth JD et al.
Methods in Molecular Biology (clifton, N.j.), 2008
The prion protein gene in humans revisited: lessons from a worldwide resequencing study.
Soldevila M et al.
Genome Research, 2006
Balancing selection at the prion protein gene consistent with prehistoric kurulike epidemics.
Mead S et al.
Science (new York, N.y.), 2003
Sporadic and familial CJD: classification and characterisation.
Gambetti P et al.
British Medical Bulletin, 2003
Molecular and clinical classification of human prion disease.
Wadsworth JD et al.
British Medical Bulletin, 2003
Mutations of the prion protein gene phenotypic spectrum.
Kovács GG et al.
Journal of Neurology, 2002