Associated Papers
A point mutation in GPI-attachment signal peptide accelerates the development of prion disease.
Kobayashi A et al.
Acta Neuropathologica, 2023
The First Evaluation of Proteinase K-Resistant Prion Protein (PrPSc) in Korean Appendix Specimens.
Won SY et al.
Medicina (kaunas, Lithuania), 2022
Diagnostic accuracy of cerebrospinal fluid biomarkers in genetic prion diseases.
Schmitz M et al.
Brain : a Journal of Neurology, 2022
Genetic Risk Factors of Creutzfeldt-Jakob Disease in the Population of Newborns in Slovakia.
Kosorinova D et al.
Pathogens (basel, Switzerland), 2021
Identification of Prion Disease-Related Somatic Mutations in the Prion Protein Gene (PRNP) in Cancer Patients.
Kim YC et al.
Cells, 2020
First Report of the Potential Bovine Spongiform Encephalopathy (BSE)-Related Somatic Mutation E211K of the Prion Protein Gene (PRNP) in Cattle.
Won SY et al.
International Journal of Molecular Sciences, 2020
Genetic Factors in Mammalian Prion Diseases.
Mead S et al.
Annual Review of Genetics, 2019
Mutations in Prion Protein Gene: Pathogenic Mechanisms in C-Terminal vs. N-Terminal Domain, a Review.
Bernardi L et al.
International Journal of Molecular Sciences, 2019
Cerebrospinal Fluid Total Prion Protein in the Spectrum of Prion Diseases.
Villar-Piqué A et al.
Molecular Neurobiology, 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
Genetic PrP Prion Diseases.
Kim MO et al.
Cold Spring Harbor Perspectives in Biology, 2018
Characterization of mutations in PRNP (prion) gene and their possible roles in neurodegenerative diseases.
Bagyinszky E et al.
Neuropsychiatric Disease and Treatment, 2018
Genetic prion disease: Experience of a rapidly progressive dementia center in the United States and a review of the literature.
Takada LT et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 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
Single octapeptide deletion selectively processes a pathogenic prion protein mutant on the cell surface.
Lee Y et al.
Biochemical and Biophysical Research Communications, 2016
The fate of PrP GPI-anchor signal peptide is modulated by P238S pathogenic mutation.
Guizzunti G et al.
Traffic (copenhagen, Denmark), 2014
A novel prion disease associated with diarrhea and autonomic neuropathy.
Mead S et al.
The New England Journal of Medicine, 2013
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
Structural basis for the protective effect of the human prion protein carrying the dominant-negative E219K polymorphism.
Biljan I et al.
The Biochemical Journal, 2012
Mutation directional selection sheds light on prion pathogenesis.
Shen L et al.
Biochemical and Biophysical Research Communications, 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
Ovine reference materials and assays for prion genetic testing.
Heaton MP et al.
Bmc Veterinary Research, 2010
The consequences of pathogenic mutations to the human prion protein.
van der Kamp MW et al.
Protein Engineering, Design & Selection : Peds, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Novel PRNP mutation in a patient with a slow progressive dementia syndrome.
Heinemann U et al.
Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2008
Pathogenic mutations in the glycosylphosphatidylinositol signal peptide of PrP modulate its topology in neuroblastoma cells.
Gu Y et al.
Molecular and Cellular Neurosciences, 2008
Molecular diagnosis of human prion disease.
Wadsworth JD et al.
Methods in Molecular Biology (clifton, N.j.), 2008
Defective retrotranslocation causes loss of anti-Bax function in human familial prion protein mutants.
Jodoin J et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2007
Creutzfeldt-Jakob disease in Germany: a prospective 12-year surveillance.
Heinemann U et al.
Brain : a Journal of Neurology, 2007
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
Evidence that the 127-164 region of prion proteins has two equi-energetic conformations with beta or alpha features.
Derreumaux P
Biophysical Journal, 2001
Molecular genetics of human prion diseases in Germany.
Windl O et al.
Human Genetics, 1999
Cytosolically expressed PrP GPI-signal peptide interacts with mitochondria.
Guizzunti G et al.
Communicative & Integrative Biology, 0