Varaico: Literature-Extracted Genetic Variants

Gene:PRNP
Variant:p.E200G
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PRNP

NM_000311.5:p.E200G

Associated Papers

Genetic Creutzfeldt-Jakob disease linked to the E200K mutation: a large cohort study.

Appleby BS et al.

Acta Neuropathologica, 2026

Anti-prion drugs do not improve survival in novel knock-in models of inherited prion disease.

Walsh DJ et al.

Plos Pathogens, 2024

Anti-prion drugs do not improve survival in knock-in models of inherited prion disease.

Walsh DJ et al.

Biorxiv : the Preprint Server for Biology, 2023

Prion Mutations in Republic of Republic of Korea, China, and Japan.

Kim DY et al.

International Journal of Molecular Sciences, 2022

Creutzfeldt-Jakob disease associated with a T188K homozygous mutation in the prion protein gene: a case report and review of the literature.

Shan Y et al.

Prion, 2022

Genetic Creutzfeldt-Jakob disease shows fatal family insomnia phenotype.

Chen B et al.

Prion, 2021

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

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

32549191 (PubMed )
Supplement: ijms-21-04246-s001.pdf

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

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

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

Clinical and neuropathological phenotype associated with the novel V189I mutation in the prion protein gene.

Di Fede G et al.

Acta Neuropathologica Communications, 2019

Novel prion mutation (p.Tyr225Cys) in a Korean patient with atypical Creutzfeldt-Jakob disease.

Bagyinszky E et al.

Clinical Interventions in Aging, 2019

Genetic PrP Prion Diseases.

Kim MO et al.

Cold Spring Harbor Perspectives in Biology, 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

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

Prion Diseases.

Geschwind MD

Continuum (minneapolis, Minn.), 2015

Clinical update of Jakob-Creutzfeldt disease.

Kim MO et al.

Current Opinion in Neurology, 2015

Genetic CJD with a novel E200G mutation in the prion protein gene and comparison with E200K mutation cases.

Kim MO et al.

Acta Neuropathologica Communications, 2013

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