Associated Papers
Genetic contributions to Alzheimer's disease and frontotemporal dementia in admixed Latin American populations.
Acosta-Uribe J et al.
Npj Dementia, 2026
Spontaneous prion disease in homozygous and heterozygous transgenic mouse models of T188K genetic Creutzfeldt-Jakob disease.
Wu YZ et al.
Neurobiology of Aging, 2023
Proposal of new diagnostic criteria for fatal familial insomnia.
Chu M et al.
Journal of Neurology, 2022
Genetic Prion Disease: Insight from the Features and Experience of China National Surveillance for Creutzfeldt-Jakob Disease.
Shi Q et al.
Neuroscience Bulletin, 2021
Phenotypic diversity of genetic Creutzfeldt-Jakob disease: a histo-molecular-based classification.
Baiardi S et al.
Acta Neuropathologica, 2021
Genetic Factors in Mammalian Prion Diseases.
Mead S et al.
Annual Review of Genetics, 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
Movement Disorders in Prionopathies: A Systematic Review.
Rodriguez-Porcel F et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2019
A valine-to-lysine substitution at position 210 induces structural conversion of prion protein into a β-sheet rich oligomer.
Kakuda K et al.
Biochemical and Biophysical Research Communications, 2018
Genetic PrP Prion Diseases.
Kim MO et al.
Cold Spring Harbor Perspectives in Biology, 2018
Genetic Creutzfeldt-Jakob disease.
Ladogana A et al.
Handbook of Clinical Neurology, 2018
Characterization of mutations in PRNP (prion) gene and their possible roles in neurodegenerative diseases.
Bagyinszky E et al.
Neuropsychiatric Disease and Treatment, 2018
Experimental Models of Inherited PrP Prion Diseases.
Watts JC et al.
Cold Spring Harbor Perspectives in Medicine, 2017
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
Quantifying prion disease penetrance using large population control cohorts.
Minikel EV et al.
Science Translational Medicine, 2016
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
Clinical and familial characteristics of eight Chinese patients with T188K genetic Creutzfeldt-Jakob disease.
Chen C et al.
Infection, Genetics and Evolution : Journal of Molecular Epidemiology and Evolutionary Genetics in Infectious Diseases, 2013
Burial of the polymorphic residue 129 in amyloid fibrils of prion stop mutants.
Skora L et al.
The Journal of Biological Chemistry, 2013
Structural rearrangements at physiological pH: nuclear magnetic resonance insights from the V210I human prion protein mutant.
Biljan I et al.
Biochemistry, 2012
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
Influence of the pathogenic mutations T188K/R/A on the structural stability and misfolding of human prion protein: insight from molecular dynamics simulations.
Guo J et al.
Biochimica Et Biophysica Acta, 2012
Common structural traits across pathogenic mutants of the human prion protein and their implications for familial prion diseases.
Rossetti G et al.
Journal of Molecular Biology, 2011
Mutation directional selection sheds light on prion pathogenesis.
Shen L et al.
Biochemical and Biophysical Research Communications, 2011
Genetic Creutzfeldt-Jakob disease and fatal familial insomnia: insights into phenotypic variability and disease pathogenesis.
Capellari S et al.
Acta Neuropathologica, 2011
The prion diseases.
Brown K et al.
Journal of Geriatric Psychiatry and Neurology, 2010
Pathologic evidence that the T188R mutation in PRNP is associated with prion disease.
Tartaglia MC et al.
Journal of Neuropathology and Experimental Neurology, 2010
The H187R mutation of the human prion protein induces conversion of recombinant prion protein to the PrP(Sc)-like form.
Hosszu LL et al.
Biochemistry, 2010
PRNP allelic series from 19 years of prion protein gene sequencing at the MRC Prion Unit.
Beck JA et al.
Human Mutation, 2010
Prion proteins with pathogenic and protective mutations show similar structure and dynamics.
Bae SH et al.
Biochemistry, 2009
The consequences of pathogenic mutations to the human prion protein.
van der Kamp MW et al.
Protein Engineering, Design & Selection : Peds, 2009
Human Prion disease with a T188K mutation in Chinese: a case report.
Shi Q et al.
Cases Journal, 2009
Structural characterization of a neurotoxic threonine-rich peptide corresponding to the human prion protein alpha 2-helical 180-195 segment, and comparison with full-length alpha 2-helix-derived peptides.
Ronga L et al.
Journal of Peptide Science : an Official Publication of the European Peptide Society, 2008
Evidence for a pathogenic role of different mutations at codon 188 of PRNP.
Roeber S et al.
Plos One, 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
NMR structure and CD titration with metal cations of human prion alpha2-helix-related peptides.
Ronga L et al.
Bioinorganic Chemistry and Applications, 2007
Checking the pH-induced conformational transition of prion protein by molecular dynamics simulations: effect of protonation of histidine residues.
Langella E et al.
Biophysical Journal, 2004
Predictors of survival in sporadic Creutzfeldt-Jakob disease and other human transmissible spongiform encephalopathies.
Pocchiari M et al.
Brain : a Journal of Neurology, 2004
Helix H1 of the prion protein is rather stable against environmental perturbations: molecular dynamics of mutation and deletion variants of PrP(90-231).
Santini S et al.
Cellular and Molecular Life Sciences : Cmls, 2004
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
A cluster of familial Creutzfeldt-Jakob disease mutations recapitulate conserved residues in Doppel: a case of molecular mimicry?
Mastrangelo P et al.
Febs Letters, 2002
Mutations of the prion protein gene phenotypic spectrum.
Kovács GG et al.
Journal of Neurology, 2002
Exploring the propensities of helices in PrP(C) to form beta sheet using NMR structures and sequence alignments.
Dima RI et al.
Biophysical Journal, 2002