Associated Papers
Genetic causes and modifiers of prion diseases.
Mead S et al.
The Lancet. Neurology, 2026
Pathogenic Proteins Through the Lens of NMR Spectroscopy: Structural and Functional Insights into Disease.
Aboalroub AA
Cell Biochemistry and Biophysics, 2025
Structural and cellular properties of human prion protein oligomers.
Emendato A et al.
Communications Biology, 2025
Structure and Dynamics of the Misfolding Intermediate in the Pathogenic T183A Prion Protein Mutant.
Biancaniello C et al.
Journal of Chemical Theory and Computation, 2025
Spontaneous prion disease in homozygous and heterozygous transgenic mouse models of T188K genetic Creutzfeldt-Jakob disease.
Wu YZ et al.
Neurobiology of Aging, 2023
N-glycosylation is a potent regulator of prion protein neurotoxicity.
Schilling KM et al.
The Journal of Biological Chemistry, 2023
Intrinsic determinants of prion protein neurotoxicity in Drosophila: from sequence to (dys)function.
Cembran A et al.
Frontiers in Molecular Neuroscience, 2023
Prion Mutations in Republic of Republic of Korea, China, and Japan.
Kim DY et al.
International Journal of Molecular Sciences, 2022
Biochemical and Neuropathological Findings in a Creutzfeldt-Jakob Disease Patient with the Rare Val180Ile-129Val Haplotype in the Prion Protein Gene.
Zanusso G et al.
International Journal of Molecular Sciences, 2022
The First Evaluation of Proteinase K-Resistant Prion Protein (PrPSc) in Korean Appendix Specimens.
Won SY et al.
Medicina (kaunas, Lithuania), 2022
Genetic prion diseases presenting as frontotemporal dementia: clinical features and diagnostic challenge.
Chen Z et al.
Alzheimer's Research & Therapy, 2022
Alterations of Striatal Subregions in a Prion Protein Gene V180I Mutation Carrier Presented as Frontotemporal Dementia With Parkinsonism.
Chen Z et al.
Frontiers in Aging Neuroscience, 2022
Genetic Prion Disease: Insight from the Features and Experience of China National Surveillance for Creutzfeldt-Jakob Disease.
Shi Q et al.
Neuroscience Bulletin, 2021
Phenotypic diversity of genetic Creutzfeldt-Jakob disease: a histo-molecular-based classification.
Baiardi S et al.
Acta Neuropathologica, 2021
Genetic prion disease-related mutation E196K displays a novel amyloid fibril structure revealed by cryo-EM.
Wang LQ et al.
Science Advances, 2021
Backbone NMR assignments of the C-terminal domain of the human prion protein and its disease-associated T183A variant.
Sanz-Hernández M et al.
Biomolecular Nmr Assignments, 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
Characterization of Anchorless Human PrP With Q227X Stop Mutation Linked to Gerstmann-Sträussler-Scheinker Syndrome In Vivo and In Vitro.
Shen P et al.
Molecular Neurobiology, 2021
Autoantibodies against the prion protein in individuals with PRNP mutations.
Frontzek K et al.
Neurology, 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
Prion protein glycans reduce intracerebral fibril formation and spongiosis in prion disease.
Sevillano AM et al.
The Journal of Clinical Investigation, 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
Absence of single nucleotide polymorphisms (SNPs) in the open reading frame (ORF) of the prion protein gene (PRNP) in a large sampling of various chicken breeds.
Kim YC et al.
Bmc Genomics, 2019
In Vitro Seeding Activity of Glycoform-Deficient Prions from Variably Protease-Sensitive Prionopathy and Familial CJD Associated with PrPV180I Mutation.
Wang Z et al.
Molecular Neurobiology, 2019
Mutations in Prion Protein Gene: Pathogenic Mechanisms in C-Terminal vs. N-Terminal Domain, a Review.
Bernardi L et al.
International Journal of Molecular Sciences, 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
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
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
Glycosylation Significantly Inhibits the Aggregation of Human Prion Protein and Decreases Its Cytotoxicity.
Yi CW et al.
Scientific Reports, 2018
The clinical features in Chinese patients with PRNP D178N mutation.
Chen S et al.
Acta Neurologica Scandinavica, 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
Loss and gain of N-linked glycosylation sequons due to single-nucleotide variation in cancer.
Fan Y et al.
Scientific Reports, 2018
Genetic Creutzfeldt-Jakob disease.
Ladogana A et al.
Handbook of Clinical Neurology, 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
The first report of polymorphisms and genetic characteristics of the prion protein gene (PRNP) in horses.
Kim YC et al.
Prion, 2018
Experimental Models of Inherited PrP Prion Diseases.
Watts JC et al.
Cold Spring Harbor Perspectives in Medicine, 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