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
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
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
Parkinsonism in Gerstmann-Sträussler-Scheinker disease: A case report.
Poveda S et al.
Eneurologicalsci, 2025
Clinical phenotype associated with A118V mutation of PRPN gene.
Giannelli T et al.
Journal of Neurology, 2025
Cytokine-induced reprogramming of human macrophages toward Alzheimer's disease-relevant molecular and cellular phenotypes in vitro.
Podleśny-Drabiniok A et al.
Cell Reports, 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
PRNP E146G mutation inherited prion disease: distinctive clinical, pathological and fluid biomarker features.
Coysh T et al.
Journal of Neurology, 2025
Creutzfeldt-Jakob disease: A comprehensive review of current understanding and research.
Noor H et al.
Journal of the Neurological Sciences, 2024
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
Emerging Trends in Cryo-EM-based Structural Studies of Neuropathological Amyloids.
Mishra S
Journal of Molecular Biology, 2023
Excess PrPC inhibits muscle cell differentiation via miRNA-enhanced liquid-liquid phase separation implicated in myopathy.
Tao J et al.
Nature Communications, 2023
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
F198S Gerstmann-Sträussler-Scheinker Syndrome With Parkinsonism, Dyskinesia, and Abnormal (I-123)-FP-CIT Single-Photon Emission Computed Tomography: A Case Report.
Jiang RY et al.
Cureus, 2023
Heterotypic electrostatic interactions control complex phase separation of tau and prion into multiphasic condensates and co-aggregates.
Rai SK et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Pearls & Oy-sters: Deep Phenotyping of Abnormal Eye Movements Advances the Detection of Gerstmann-Sträussler-Scheinker Syndrome.
Paul AM et al.
Neurology, 2022
Gerstmann-Sträussler-Scheinker Disease with F198S Mutation Induces Independent Tau and Prion Protein Pathologies in Bank Voles.
Bruno R et al.
Biomolecules, 2022
Distinguishing post-translational modifications in dominantly inherited frontotemporal dementias: FTLD-TDP Type A (GRN) vs Type B (C9orf72).
Cracco L et al.
Neuropathology and Applied Neurobiology, 2022
Conformation-Dependent Influences of Hydrophobic Amino Acids in Two In-Register Parallel β-Sheet Amyloids, an α-Synuclein Amyloid and a Local Structural Model of PrPSc.
Otaki H et al.
Acs Omega, 2022
Cryo-EM structures of prion protein filaments from Gerstmann-Sträussler-Scheinker disease.
Hallinan GI et al.
Acta Neuropathologica, 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
Dissecting the clinical heterogeneity of early-onset Alzheimer's disease.
Sirkis DW et al.
Molecular Psychiatry, 2022
The First Meta-Analysis of the M129V Single-Nucleotide Polymorphism (SNP) of the Prion Protein Gene (PRNP) with Sporadic Creutzfeldt-Jakob Disease.
Kim YC et al.
Cells, 2021
Structure of Tau filaments in Prion protein amyloidoses.
Hallinan GI et al.
Acta Neuropathologica, 2021
13C and 15N chemical shift assignments of A117V and M129V human Y145Stop prion protein amyloid fibrils.
Dao HH et al.
Biomolecular Nmr Assignments, 2021
Autoantibodies against the prion protein in individuals with PRNP mutations.
Frontzek K et al.
Neurology, 2020
Prion-associated cerebral amyloid angiopathy is not exacerbated by human phosphorylated tau aggregates in scrapie-infected mice expressing anchorless prion protein.
Race B et al.
Neurobiology of Disease, 2020
Prion protein post-translational modifications modulate heparan sulfate binding and limit aggregate size in prion disease.
Callender JA et al.
Neurobiology of Disease, 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
Spontaneous generation of prions and transmissible PrP amyloid in a humanised transgenic mouse model of A117V GSS.
Asante EA et al.
Plos Biology, 2020
Prion protein glycans reduce intracerebral fibril formation and spongiosis in prion disease.
Sevillano AM et al.
The Journal of Clinical Investigation, 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
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
Disassociation of β1-α1-β2 from the α2-α3 domain of prion protein (PrP) is a prerequisite for the conformational conversion of PrPC into PrPSc: Driven by the free energy landscape.
Chandrasekaran P et al.
International Journal of Biological Macromolecules, 2019
American Association of Neuropathologists, Inc. Abstracts of the 95th Annual Meeting June 6-9, 2019 Atlanta, Georgia.
Unknown Author
Journal of Neuropathology and Experimental Neurology, 2019
Gerstmann-Sträussler-Scheinker disease revisited: accumulation of covalently-linked multimers of internal prion protein fragments.
Cracco L et al.
Acta Neuropathologica Communications, 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
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
A case of Gerstmann-Straussler-Scheinker (GSS) disease with supranuclear gaze palsy.
Ufkes NA et al.
Journal of Clinical Movement Disorders, 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
Detection of tau in Gerstmann-Sträussler-Scheinker disease (PRNP F198S) by [18F]Flortaucipir PET.
Risacher SL et al.
Acta Neuropathologica Communications, 2018