Associated Papers
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
Structural and cellular properties of human prion protein oligomers.
Emendato A et al.
Communications Biology, 2025
Genetic and pathological features encipher the phenotypic heterogeneity of Gerstmann-Sträussler-Scheinker disease.
Chen Z et al.
Neurobiology of Disease, 2024
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
Role of redox-sensitive catalytic interaction with ADAM10 in mutant-selective extracellular shedding of prion protein.
Shin Y et al.
Redox Biology, 2022
Genetic prion diseases presenting as frontotemporal dementia: clinical features and diagnostic challenge.
Chen Z et al.
Alzheimer's Research & Therapy, 2022
Regional variability and genotypic and pharmacodynamic effects on PrP concentration in the CNS.
Mortberg MA et al.
Jci Insight, 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
Extracellular Prion Protein Aggregates in Nine Gerstmann-Sträussler-Scheinker Syndrome Subjects with Mutation P102L: A Micromorphological Study and Comparison with Literature Data.
Jankovska N et al.
International Journal of Molecular Sciences, 2021
Mechanism of misfolding of the human prion protein revealed by a pathological mutation.
Sanz-Hernández M et al.
Proceedings of the National Academy of Sciences of the United States of America, 2021
Myoclonus-Ataxia Syndromes: A Diagnostic Approach.
Rossi M et al.
Movement Disorders Clinical Practice, 2021
A seven-residue deletion in PrP leads to generation of a spontaneous prion formed from C-terminal C1 fragment of PrP.
Munoz-Montesino C et al.
The Journal of Biological Chemistry, 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
Structural insight into conformational change in prion protein by breakage of electrostatic network around H187 due to its protonation.
Lee J et al.
Scientific Reports, 2019
Genetic Factors in Mammalian Prion Diseases.
Mead S et al.
Annual Review of Genetics, 2019
The cellular prion protein and its derived fragments in human prion diseases and their role as potential biomarkers.
Thüne K et al.
Expert Review of Molecular Diagnostics, 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
Recent advances in the histo-molecular pathology of human prion disease.
Baiardi S et al.
Brain Pathology (zurich, Switzerland), 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
Attempt to Untangle the Prion-Like Misfolding Mechanism for Neurodegenerative Diseases.
Sarnataro D
International Journal of Molecular Sciences, 2018
An autopsy report of three kindred in a Gerstmann-Sträussler-Scheinker disease P105L family with a special reference to prion protein, tau, and beta-amyloid.
Ishizawa K et al.
Brain and Behavior, 2018
The clinical features in Chinese patients with PRNP D178N mutation.
Chen S et al.
Acta Neurologica Scandinavica, 2018
Genetic PrP Prion Diseases.
Kim MO et al.
Cold Spring Harbor Perspectives in Biology, 2018
Lysosomal Quality Control in Prion Diseases.
Majumder P et al.
Molecular Neurobiology, 2018
A novel Gerstmann-Sträussler-Scheinker disease mutation defines a precursor for amyloidogenic 8 kDa PrP fragments and reveals N-terminal structural changes shared by other GSS alleles.
Mercer RCC et al.
Plos Pathogens, 2018
Dominantly inherited prion protein cerebral amyloidoses - a modern view of Gerstmann-Sträussler-Scheinker.
Ghetti B et al.
Handbook of Clinical Neurology, 2018
Experimental Models of Inherited PrP Prion Diseases.
Watts JC et al.
Cold Spring Harbor Perspectives in Medicine, 2017
Methods for Molecular Diagnosis of Human Prion Disease.
Wadsworth JDF et al.
Methods in Molecular Biology (clifton, N.j.), 2017
Anchorless forms of prion protein - Impact of truncation on structure destabilization and prion protein conversion.
Kovač V et al.
Biochemical and Biophysical Research Communications, 2016
Distinct effects of mutations on biophysical properties of human prion protein monomers and oligomers.
Yu Y et al.
Acta Biochimica Et Biophysica Sinica, 2016
Misfolding leads the way to unraveling signaling pathways in the pathophysiology of prion diseases.
Puig B et al.
Prion, 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
Molecular dynamics studies on the buffalo prion protein.
Zhang J et al.
Journal of Biomolecular Structure & Dynamics, 2016
Molecular Mechanism of the Misfolding and Oligomerization of the Prion Protein: Current Understanding and Its Implications.
Singh J et al.
Biochemistry, 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
Structural and dynamic properties of the human prion protein.
Chen W et al.
Biophysical Journal, 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
Conformational instability of human prion protein upon residue modification: a molecular dynamics simulation study.
Bamdad K et al.
Excli Journal, 2014
A novel prion disease associated with diarrhea and autonomic neuropathy.
Mead S et al.
The New England Journal of Medicine, 2013