Associated Papers
Prion protein promotes copper toxicity in Wilson disease.
Petruzzelli R et al.
Nature Communications, 2025
SIGMA leverages protein structural information to predict the pathogenicity of missense variants.
Zhao H et al.
Cell Reports Methods, 2024
Novel polymorphisms and genetic studies of the shadow of prion protein gene (SPRN) in pheasants.
Choi DI et al.
Frontiers in Veterinary Science, 2024
High-Depth PRNP Sequencing in Brains With Sporadic Creutzfeldt-Jakob Disease.
Murley AG et al.
Neurology. Genetics, 2023
Genetic prion diseases presenting as frontotemporal dementia: clinical features and diagnostic challenge.
Chen Z et al.
Alzheimer's Research & Therapy, 2022
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
Newly designed 11-gene panel reveals first case of hereditary amyloidosis captured by massive parallel sequencing.
Chyra Kufova Z et al.
Journal of Clinical Pathology, 2018
Genetic PrP Prion Diseases.
Kim MO et al.
Cold Spring Harbor Perspectives in Biology, 2018
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
Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource.
Keogh MJ et al.
Genome Research, 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
Atypical parkinsonism caused by Pro105Leu mutation of prion protein: A broad clinical spectrum.
Mano KK et al.
Neurology. Genetics, 2016
The prion protein gene polymorphisms associated with bovine spongiform encephalopathy susceptibility differ significantly between cattle and buffalo.
Zhao H et al.
Infection, Genetics and Evolution : Journal of Molecular Epidemiology and Evolutionary Genetics in Infectious Diseases, 2015
Predictive testing for inherited prion disease: report of 22 years experience.
Owen J et al.
European Journal of Human Genetics : Ejhg, 2014
Evidence for synergistic effects of PRNP and ATP7B mutations in severe neuropsychiatric deterioration.
Forbes N et al.
Bmc Medical Genetics, 2014
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
Frequency distribution of PRNP polymorphisms in the Pakistani population.
Imran M et al.
Gene, 2012
Mutation directional selection sheds light on prion pathogenesis.
Shen L et al.
Biochemical and Biophysical Research Communications, 2011
PRNP allelic series from 19 years of prion protein gene sequencing at the MRC Prion Unit.
Beck JA et al.
Human Mutation, 2010