Varaico: Literature-Extracted Genetic Variants

Gene:PRNP
Variant:p.E219K
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PRNP

NM_000311.5:p.E219K

Associated Papers

Leveraging the dominant-negative effect of the kuru-protective G127V prion protein variant as a novel therapeutic strategy.

Gatdula JRP et al.

Biorxiv : the Preprint Server for Biology, 2026

Bridging pleiotropic mechanisms in leprosy type-1 reactions and neurodegenerative diseases.

Fava VM et al.

Scientific Reports, 2025

41430073 (PubMed )
Supplement: 41598_2025_30734_MOESM2_ESM.xlsx › Variants

Human PrP E219K: a new and promising substrate for robust RT-QuIC amplification of human prions with potential for strain discrimination.

Marín-Moreno A et al.

Microbiology Spectrum, 2025

A comprehensive phylogeny of mammalian PRNP gene reveals no influence of prion misfolding propensity on the evolution of this gene.

Sampedro-Torres-Quevedo C et al.

Plos Pathogens, 2025

Detection of polymorphisms in the prion-like protein Doppel (PRND) gene in Jeju black cattle.

Nguyen T et al.

Genome, 2025

Neuropathologically directed profiling of PRNP somatic and germline variants in sporadic human prion disease.

McDonough GA et al.

Acta Neuropathologica, 2024

Human immunodeficiency virus-associated dementia complex with positive 14-3-3 protein in cerebrospinal fluid: A case report.

He YS et al.

World Journal of Clinical Cases, 2024

Progressive supranuclear palsy phenotype as an atypical clinical presentation of Creutzfeldt-Jakob disease: A case report and review of the literature.

Costanzo M et al.

Clinical Parkinsonism & Related Disorders, 2024

Prion protein E219K polymorphism: from the discovery of the KANNO blood group to interventions for human prion disease.

Wang SS et al.

Frontiers in Neurology, 2024

Novel polymorphisms in the prion protein gene (PRNP) and stability of the resultant prion protein in different horse breeds.

Sola D et al.

Veterinary Research, 2023

Investigation of blood group genotype prevalence in Korean population using large genomic databases.

Bae CO et al.

Scientific Reports, 2023

Recombinant ovine prion protein can be mutated at position 136 to improve its efficacy as an inhibitor of prion propagation.

Kopycka K et al.

Scientific Reports, 2023

Preventive or promotive effects of PRNP polymorphic heterozygosity on the onset of prion disease.

Kai H et al.

Heliyon, 2023

Effects of the pathological E200K mutation on human prion protein: A computational screening and molecular dynamics approach.

Gharemirshamloo FR et al.

Journal of Cellular Biochemistry, 2023

Recognition Mechanisms between a Nanobody and Disordered Epitopes of the Human Prion Protein: An Integrative Molecular Dynamics Study.

Mollica L et al.

Journal of Chemical Information and Modeling, 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

No association of prion protein gene (PRNP) polymorphisms with susceptibility to the pandemic 2009 swine flu.

Kim YC et al.

Molecular & Cellular Toxicology, 2022

International Society of Blood Transfusion Working Party on Red Cell Immunogenetics and Blood Group Terminology Report of Basel and three virtual business meetings: Update on blood group systems.

Gassner C et al.

Vox Sanguinis, 2022

Structural and dynamical determinants of a β-sheet-enriched intermediate involved in amyloid fibrillar assembly of human prion protein.

Russo L et al.

Chemical Science, 2022

The First Evaluation of Proteinase K-Resistant Prion Protein (PrPSc) in Korean Appendix Specimens.

Won SY et al.

Medicina (kaunas, Lithuania), 2022

Prion protein gene mutation detection using long-read Nanopore sequencing.

Kroll F et al.

Scientific Reports, 2022

Human prion protein: exploring the thermodynamic stability and structural dynamics of its pathogenic mutants.

Halder P et al.

Journal of Biomolecular Structure & Dynamics, 2022

Novel Polymorphisms and Genetic Characteristics of the Prion Protein Gene in Pheasants.

Kim KH et al.

Frontiers in Veterinary Science, 2022

Characteristics of Chinese patients with genetic CJD who have E196A or E196K mutation in PRNP: comparative analysis of patients identified in the Chinese National CJD Surveillance System.

Shi Q et al.

Bmj Open, 2021

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

Association Study of the M132L Single Nucleotide Polymorphism With Susceptibility to Chronic Wasting Disease in Korean Elk: A Meta-Analysis.

Roh IS et al.

Frontiers in Veterinary Science, 2021

Corticobasal manifestations of Creutzfeldt-Jakob disease with D178N-homozygous 129M genotype.

Huang Y et al.

Prion, 2020

Autoantibodies against the prion protein in individuals with PRNP mutations.

Frontzek K et al.

Neurology, 2020

Incidence of and Mortality Due to Human Prion Diseases in Taiwan: A Prospective 20-Year Nationwide Surveillance Study from 1998 to 2017.

Sun Y et al.

Clinical Epidemiology, 2020

Genetic Factors in Mammalian Prion Diseases.

Mead S et al.

Annual Review of Genetics, 2019

Potential scrapie-associated polymorphisms of the prion protein gene (PRNP) in Korean native black goats.

Kim SK et al.

Scientific Reports, 2019

A Single Amino Acid Substitution, Found in Mammals with Low Susceptibility to Prion Diseases, Delays Propagation of Two Prion Strains in Highly Susceptible Transgenic Mouse Models.

Otero A 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

Integrative genome analysis identified the KANNO blood group antigen as prion protein.

Omae Y et al.

Transfusion, 2019

Genetic analyses of early-onset Alzheimer's disease using next generation sequencing.

Giau VV et al.

Scientific Reports, 2019

31182772 (PubMed )
Supplement: 41598_2019_44848_MOESM1_ESM.pdf

The role of the protein-RNA recognition code in neurodegeneration.

Nahalka J

Cellular and Molecular Life Sciences : Cmls, 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

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

Analysis of 50 Neurodegenerative Genes in Clinically Diagnosed Early-Onset Alzheimer's Disease.

Giau VV et al.

International Journal of Molecular Sciences, 2019

Pressure Reveals Unique Conformational Features in Prion Protein Fibril Diversity.

Torrent J et al.

Scientific Reports, 2019

[Genetic Creutzfeldt-Jakob disease with a glutamate-to-lysine substitution at codon 219 (E219K) in the presence of the E200K mutation presenting with rapid progressive dementia following slowly progressive clinical course].

Takayanagi M et al.

Rinsho Shinkeigaku = Clinical Neurology, 2018

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

Structural basis for the complete resistance of the human prion protein mutant G127V to prion disease.

Zheng Z et al.

Scientific Reports, 2018

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."