Associated Papers
Letter to the editor: Expanding the prion disease spectrum - frontotemporal dementia from a novel PRNP frameshift variant.
Neves Pereira J et al.
Journal of the Neurological Sciences, 2025
Inherited prion disease caused by a novel frameshift mutation of PRNP resulting in protein truncation at codon 157.
Holm-Mercer L et al.
Journal of Alzheimer's Disease : Jad, 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
Disease-Associated Q159X Mutant Prion Protein Is Sufficient to Cause Fatal Degenerative Disease in Mice.
Zhang Y et al.
Molecular Neurobiology, 2024
Cross-seeding by prion protein inactivates TDP-43.
Polido SA et al.
Brain : a Journal of Neurology, 2024
Clinical considerations in early-onset cerebral amyloid angiopathy.
Banerjee G et al.
Brain : a Journal of Neurology, 2023
SORL1 gene mutation and octapeptide repeat insertion in PRNP gene in a case presenting with rapidly progressive dementia and cerebral amyloid angiopathy.
Cencini F et al.
European Journal of Neurology, 2022
Investigating CRISPR/Cas9 gene drive for production of disease-preventing prion gene alleles.
Castle AR et al.
Plos One, 2022
Genetic aspects of human prion diseases.
Appleby BS et al.
Frontiers in Neurology, 2022
Identification of Prion Disease-Related Somatic Mutations in the Prion Protein Gene (PRNP) in Cancer Patients.
Kim YC et al.
Cells, 2020
Evaluating drug targets through human loss-of-function genetic variation.
Minikel EV et al.
Nature, 2020
Shortening heparan sulfate chains prolongs survival and reduces parenchymal plaques in prion disease caused by mobile, ADAM10-cleaved prions.
Aguilar-Calvo P et al.
Acta Neuropathologica, 2020
Genetic Factors in Mammalian Prion Diseases.
Mead S et al.
Annual Review of Genetics, 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
Understanding Prion Strains: Evidence from Studies of the Disease Forms Affecting Humans.
Rossi M et al.
Viruses, 2019
Recent advances in the histo-molecular pathology of human prion disease.
Baiardi S et al.
Brain Pathology (zurich, Switzerland), 2019
Early-onset Alzheimer's disease patient with prion (PRNP) p.Val180Ile mutation.
Bagyinszky E et al.
Neuropsychiatric Disease and Treatment, 2019
Two novel PRNP truncating mutations broaden the spectrum of prion amyloidosis.
Capellari S et al.
Annals of Clinical and Translational Neurology, 2018
Genetic PrP Prion Diseases.
Kim MO et al.
Cold Spring Harbor Perspectives in Biology, 2018
Impaired transport of intrinsically disordered proteins through the Sec61 and SecY translocon; implications for prion diseases.
Jung S et al.
Prion, 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
Genetic Creutzfeldt-Jakob disease.
Ladogana A 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
Drosophila models of prionopathies: insight into prion protein function, transmission, and neurotoxicity.
Fernandez-Funez P et al.
Current Opinion in Genetics & Development, 2017
Truncated prion protein PrP226* - A structural view on its role in amyloid disease.
Kovač V et al.
Biochemical and Biophysical Research Communications, 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
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
Mutational analysis of PRNP in Alzheimer's disease and frontotemporal dementia in China.
Zhang W et al.
Scientific Reports, 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
Genetic Disorders with Tau Pathology: A Review of the Literature and Report of Two Patients with Tauopathy and Positive Family Histories.
Tacik P et al.
Neuro-degenerative Diseases, 2016
Cyclin-dependent kinase 5 phosphorylation of familial prion protein mutants exacerbates conversion into amyloid structure.
Rouget R et al.
The Journal of Biological Chemistry, 2015
Nonsense mutation in PRNP associated with clinical Alzheimer's disease.
Guerreiro R et al.
Neurobiology of Aging, 2014
Gerstmann-Sträussler-Scheinker disease and "anchorless prion protein" mice share prion conformational properties diverging from sporadic Creutzfeldt-Jakob disease.
Zanusso G et al.
The Journal of Biological Chemistry, 2014
Distinct patterns of spread of prion infection in brains of mice expressing anchorless or anchored forms of prion protein.
Rangel A et al.
Acta Neuropathologica Communications, 2014
A novel prion disease associated with diarrhea and autonomic neuropathy.
Mead S et al.
The New England Journal of Medicine, 2013
Review: cerebral amyloid angiopathy, prion angiopathy, CADASIL and the spectrum of protein elimination failure angiopathies (PEFA) in neurodegenerative disease with a focus on therapy.
Carare RO et al.
Neuropathology and Applied Neurobiology, 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
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
Familial prion disease with Alzheimer disease-like tau pathology and clinical phenotype.
Jayadev S et al.
Annals of Neurology, 2011
The prion diseases.
Brown K et al.
Journal of Geriatric Psychiatry and Neurology, 2010
PRNP allelic series from 19 years of prion protein gene sequencing at the MRC Prion Unit.
Beck JA et al.
Human Mutation, 2010
Prion protein amyloidosis with divergent phenotype associated with two novel nonsense mutations in PRNP.
Jansen C et al.
Acta Neuropathologica, 2010