Associated Papers
Genetic causes and modifiers of prion diseases.
Mead S et al.
The Lancet. Neurology, 2026
Expert commentary: Teaching points from A young patient with spastic paraparesis and ataxia due to P102L GSS.
Ganguly J et al.
Parkinsonism & Related Disorders, 2026
Pathogenic Proteins Through the Lens of NMR Spectroscopy: Structural and Functional Insights into Disease.
Aboalroub AA
Cell Biochemistry and Biophysics, 2025
Accumulation Area of a Japanese PRNP P102L Variant Associated With Gerstmann-Sträussler-Scheinker Disease: The Ariake PRNP P102L Variant.
Suzuyama K et al.
Journal of Clinical Neurology (seoul, Korea), 2024
Mutations of evolutionarily conserved aromatic residues suggest that misfolding of the mouse prion protein may commence in multiple ways.
Pal S et al.
Journal of Neurochemistry, 2023
Prion Mutations in Republic of Republic of Korea, China, and Japan.
Kim DY et al.
International Journal of Molecular Sciences, 2022
Role of redox-sensitive catalytic interaction with ADAM10 in mutant-selective extracellular shedding of prion protein.
Shin Y et al.
Redox Biology, 2022
Human prion protein: exploring the thermodynamic stability and structural dynamics of its pathogenic mutants.
Halder P et al.
Journal of Biomolecular Structure & Dynamics, 2022
Homozygous R136S mutation in PRNP gene causes inherited early onset prion disease.
Ximelis T et al.
Alzheimer's Research & Therapy, 2021
Case report of homozygous E200D mutation of PRNP in apparently sporadic Creutzfeldt-Jakob disease.
Hassan A et al.
Bmc Neurology, 2021
Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series.
Koriath C et al.
Molecular Psychiatry, 2020
Structural effects of the highly protective V127 polymorphism on human prion protein.
Hosszu LLP et al.
Communications Biology, 2020
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
Deciphering Copper Coordination in the Mammalian Prion Protein Amyloidogenic Domain.
Salzano G et al.
Biophysical Journal, 2020
Biophysical characterization of oligomerization and fibrillization of the G131V pathogenic mutant of human prion protein.
Zhang M et al.
Acta Biochimica Et Biophysica Sinica, 2019
Genetic Factors in Mammalian Prion Diseases.
Mead S et al.
Annual Review of Genetics, 2019
Detecting early stage structural changes in wild type, pathogenic and non-pathogenic prion variants using Markov state model.
Jani V et al.
Rsc Advances, 2019
Analysis of 12 Chinese Patients with Proline-to-Leucine Mutation at Codon 102-Associated Gerstmann-Sträussler-Scheinker Disease.
Wang J et al.
Journal of Clinical Neurology (seoul, Korea), 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
Structural Determinants of the Prion Protein N-Terminus and Its Adducts with Copper Ions.
Sánchez-López C et al.
International Journal of Molecular Sciences, 2018
Genetic PrP Prion Diseases.
Kim MO et al.
Cold Spring Harbor Perspectives in Biology, 2018
The language disorder of prion disease is characteristic of a dynamic aphasia and is rarely an isolated clinical feature.
Caine D et al.
Plos One, 2018
Differential overexpression of SERPINA3 in human prion diseases.
Vanni S et al.
Scientific Reports, 2017
Experimental Models of Inherited PrP Prion Diseases.
Watts JC et al.
Cold Spring Harbor Perspectives in Medicine, 2017
Gerstmann-Sträussler-Scheinker disease with atypical presentation.
Keuss SE et al.
Bmj Case Reports, 2017
Truncated prion protein PrP226* - A structural view on its role in amyloid disease.
Kovač V et al.
Biochemical and Biophysical Research Communications, 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
Distinct effects of mutations on biophysical properties of human prion protein monomers and oligomers.
Yu Y et al.
Acta Biochimica Et Biophysica Sinica, 2016
Structural transitions in full-length human prion protein detected by xenon as probe and spin labeling of the N-terminal domain.
Narayanan SP et al.
Scientific Reports, 2016
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 pathogenesis of soluble PrP fragments containing Aβ binding sites.
Li B
Virus Research, 2016
The non-octarepeat copper binding site of the prion protein is a key regulator of prion conversion.
Giachin G et al.
Scientific Reports, 2015
Ubiquitin-specific protease 14 modulates degradation of cellular prion protein.
Homma T et al.
Scientific Reports, 2015
The cognitive profile of prion disease: a prospective clinical and imaging study.
Caine D et al.
Annals of Clinical and Translational Neurology, 2015
Pathological mutations H187R and E196K facilitate subdomain separation and prion protein conversion by destabilization of the native structure.
Hadži S et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2015
Molecular dynamics study of the dominant-negative E219K polymorphism in human prion protein.
Jahandideh S et al.
Journal of Biomolecular Structure & Dynamics, 2015
Predictive testing for inherited prion disease: report of 22 years experience.
Owen J et al.
European Journal of Human Genetics : Ejhg, 2014
Systematic investigation of predicted effect of nonsynonymous SNPs in human prion protein gene: a molecular modeling and molecular dynamics study.
Jahandideh S et al.
Journal of Biomolecular Structure & Dynamics, 2014
A novel prion disease associated with diarrhea and autonomic neuropathy.
Mead S et al.
The New England Journal of Medicine, 2013
Role of Prion Disease-Linked Mutations in the Intrinsically Disordered N-Terminal Domain of the Prion Protein.
Cong X et al.
Journal of Chemical Theory and Computation, 2013
Discriminant analysis of prion sequences for prediction of susceptibility.
Lee JH et al.
Experimental & Molecular Medicine, 2013
Probing early misfolding events in prion protein mutants by NMR spectroscopy.
Giachin G et al.
Molecules (basel, Switzerland), 2013