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
Differential pathology of P102L-associated Gerstmann-Stäussler-Scheinker disease: exclusive presence of 8-kDa protease-resistant prion protein vs. co-existence of 8-kDa and type-1 protease-resistant prion protein, with a focus on codon 129 polymorphism.
Noguchi H et al.
Prion, 2025
Clinical phenotype associated with A118V mutation of PRPN gene.
Giannelli T et al.
Journal of Neurology, 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
Gerstmann-Sträussler-Scheinker Disease Presenting as Late-Onset Slowly Progressive Spinocerebellar Ataxia, and Comparative Case Series with Neuropathology.
Stephen CD et al.
Movement Disorders Clinical Practice, 2024
Genetic prion diseases presenting as frontotemporal dementia: clinical features and diagnostic challenge.
Chen Z et al.
Alzheimer's Research & Therapy, 2022
1H, 13C, 15N backbone and side-chain resonance assignments of the pathogenic G131V mutant of human prion protein (91-231).
Zhang Q et al.
Biomolecular Nmr Assignments, 2021
Mutation-Dependent Refolding of Prion Protein Unveils Amyloidogenic-Related Structural Ramifications: Insights from Molecular Dynamics Simulations.
Palaniappan C et al.
Acs Chemical Neuroscience, 2021
An unusual familial dementia associated with G131V PRNP mutation.
Yetim E et al.
European Journal of Neurology, 2021
The Clinical Spectrum of Young Onset Dementia Points to Its Stochastic Origins.
Panegyres PK
Journal of Alzheimer's Disease Reports, 2021
A novel PRNP-G131R variant associated with familial prion disease.
Alshaikh JT et al.
Neurology. Genetics, 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
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
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
Structural basis for the complete resistance of the human prion protein mutant G127V to prion disease.
Zheng Z et al.
Scientific Reports, 2018
Impaired transmissibility of atypical prions from genetic CJDG114V.
Cali I et al.
Neurology. Genetics, 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
Familial human prion diseases associated with prion protein mutations Y226X and G131V are transmissible to transgenic mice expressing human prion protein.
Race B et al.
Acta Neuropathologica Communications, 2018
Dominantly inherited prion protein cerebral amyloidoses - a modern view of Gerstmann-Sträussler-Scheinker.
Ghetti B 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
Hereditary Human Prion Diseases: an Update.
Schmitz M et al.
Molecular Neurobiology, 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
Quantifying prion disease penetrance using large population control cohorts.
Minikel EV et al.
Science Translational Medicine, 2016
The pathogenesis of soluble PrP fragments containing Aβ binding sites.
Li B
Virus Research, 2016
Molecular dynamics study of the dominant-negative E219K polymorphism in human prion protein.
Jahandideh S et al.
Journal of Biomolecular Structure & Dynamics, 2015
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
Genetics of prion diseases.
Lloyd SE et al.
Current Opinion in Genetics & Development, 2013
Conformational conversion of prion protein in prion diseases.
Zhou Z et al.
Acta Biochimica Et Biophysica Sinica, 2013
Gerstmann-Sträussler-Scheinker syndrome with the P102L pathogenic mutation presenting as familial Creutzfeldt-Jakob disease: a case report and review of the literature.
Rusina R et al.
Neurocase, 2013
The intrinsic stability of the human prion β-sheet region investigated by molecular dynamics.
De Simone A et al.
Journal of Biomolecular Structure & Dynamics, 2013
Report about four novel mutations in the prion protein gene.
Schelzke G et al.
Dementia and Geriatric Cognitive Disorders, 2013
In silico analysis of prion protein mutants: a comparative study by molecular dynamics approach.
Doss CG et al.
Cell Biochemistry and Biophysics, 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