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
Psychiatric presentation of Gerstmann-Sträussler-Scheinker disease with 9-OPRI mutation in PRNP gene: a case report.
Atil ES et al.
Journal of Medical Case Reports, 2025
Parkinsonism in Gerstmann-Sträussler-Scheinker disease: A case report.
Poveda S et al.
Eneurologicalsci, 2025
GPI-anchorless prion disease is sensitive to oxidative stress and shows potential for treatment with edaravone, based on iPS-derived neuron study.
Matsuzono K et al.
Cellular and Molecular Life Sciences : Cmls, 2025
PrP C -induced signaling in human neurons activates phospholipase Cɣ1 and an Arc/Arg3.1 response.
Ojeda-Juarez D et al.
Biorxiv : the Preprint Server for Biology, 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
A family with mental disorder as the first symptom finally confirmed with Gerstmann-Sträussler-Scheinker disease with P102L mutation in PRNP gene - case report.
Chen Z et al.
Prion, 2023
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
Altered energy metabolism in Fatal Familial Insomnia cerebral organoids is associated with astrogliosis and neuronal dysfunction.
Foliaki ST et al.
Plos Genetics, 2023
Proposal of new diagnostic criteria for fatal familial insomnia.
Chu M et al.
Journal of Neurology, 2022
Description of the first Spanish case of Gerstmann-Sträussler-Scheinker disease with A117V variant: clinical, histopathological and biochemical characterization.
Eraña H et al.
Journal of Neurology, 2022
Genetic prion diseases presenting as frontotemporal dementia: clinical features and diagnostic challenge.
Chen Z et al.
Alzheimer's Research & Therapy, 2022
Homozygous R136S mutation in PRNP gene causes inherited early onset prion disease.
Ximelis T et al.
Alzheimer's Research & Therapy, 2021
Current and future applications of induced pluripotent stem cell-based models to study pathological proteins in neurodegenerative disorders.
de Rus Jacquet A et al.
Molecular Psychiatry, 2021
Tau Exon 10 Inclusion by PrPC through Downregulating GSK3β Activity.
Lidón L et al.
International Journal of Molecular Sciences, 2021
Tau Protein as a New Regulator of Cellular Prion Protein Transcription.
Lidón L et al.
Molecular Neurobiology, 2020
Pathogenic Prion Protein Isoforms Are Not Present in Cerebral Organoids Generated from Asymptomatic Donors Carrying the E200K Mutation Associated with Familial Prion Disease.
Foliaki ST et al.
Pathogens (basel, Switzerland), 2020
Atomic insights into the effects of pathological mutants through the disruption of hydrophobic core in the prion protein.
Lee J et al.
Scientific Reports, 2019
Genetic Factors in Mammalian Prion Diseases.
Mead S et al.
Annual Review of Genetics, 2019
Cerebrospinal Fluid Total Prion Protein in the Spectrum of Prion Diseases.
Villar-Piqué A et al.
Molecular Neurobiology, 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
Novel prion mutation (p.Tyr225Cys) in a Korean patient with atypical Creutzfeldt-Jakob disease.
Bagyinszky E et al.
Clinical Interventions in Aging, 2019
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
Genetic PrP Prion Diseases.
Kim MO et al.
Cold Spring Harbor Perspectives in Biology, 2018
iPS Cell Cultures from a Gerstmann-Sträussler-Scheinker Patient with the Y218N PRNP Mutation Recapitulate tau Pathology.
Matamoros-Angles A et al.
Molecular Neurobiology, 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
Generation of a new infectious recombinant prion: a model to understand Gerstmann-Sträussler-Scheinker syndrome.
Elezgarai SR et al.
Scientific Reports, 2017
A family with hereditary cerebellar ataxia finally confirmed as Gerstmann-Straussler-Scheinker syndrome with P102L mutation in PRNP gene.
Long L et al.
Neurosciences (riyadh, Saudi Arabia), 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
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
Role of PrP(C) Expression in Tau Protein Levels and Phosphorylation in Alzheimer's Disease Evolution.
Vergara C et al.
Molecular Neurobiology, 2015
Probing early misfolding events in prion protein mutants by NMR spectroscopy.
Giachin G et al.
Molecules (basel, Switzerland), 2013
Divergent clinical and neuropathological phenotype in a Gerstmann-Sträussler-Scheinker P102L family.
Popova SN et al.
Acta Neurologica Scandinavica, 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
A second case of Gerstmann-Sträussler-Scheinker disease linked to the G131V mutation in the prion protein gene in a Dutch patient.
Jansen C et al.
Journal of Neuropathology and Experimental Neurology, 2011
Altered intracellular distribution of PrPC and impairment of proteasome activity in tau overexpressing cortical neurons.
Canu N et al.
Journal of Alzheimer's Disease : Jad, 2011
Somatic mosaicism in a case of apparently sporadic Creutzfeldt-Jakob disease carrying a de novo D178N mutation in the PRNP gene.
Alzualde A et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2010
A novel PRNP Y218N mutation in Gerstmann-Sträussler-Scheinker disease with neurofibrillary degeneration.
Alzualde A et al.
Journal of Neuropathology and Experimental Neurology, 2010
Different misfolding mechanisms converge on common conformational changes: human prion protein pathogenic mutants Y218N and E196K.
Cheng CJ et al.
Prion, 0
Clinicopathological Correlates in a PRNP P102L Mutation Carrier with Rapidly Progressing Parkinsonism-dystonia.
Umeh CC et al.
Movement Disorders Clinical Practice, 0
Gerstmann-Sträussler-Scheinker Disease Presenting with Atypical Parkinsonism, but Typical Magnetic Resonance Imaging Findings of Prion Disease.
Ribosa-Nogué R et al.
Movement Disorders Clinical Practice, 0