Varaico: Literature-Extracted Genetic Variants

Gene:PRNP
Variant:p.G127V
Back to variants list

PRNP

NM_000311.5:p.G127V

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

Genetic causes and modifiers of prion diseases.

Mead S et al.

The Lancet. Neurology, 2026

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

Genetic variability of the prion protein gene (PRNP) in thin-tailed and fat-tailed sheep.

Wicaksono A et al.

Open Veterinary Journal, 2025

Decoding Missense Variants by Incorporating Phase Separation via Machine Learning.

Feng M et al.

Nature Communications, 2024

39333476 (PubMed )
Supplement: 41467_2024_52580_MOESM4_ESM.xlsx › impact_ps_mutations

Perspectives on CRISPR Genome Editing to Prevent Prion Diseases in High-Risk Individuals.

Medd MM et al.

Biomedicines, 2024

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

McDonough GA et al.

Acta Neuropathologica, 2024

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

McDonough GA et al.

Biorxiv : the Preprint Server for Biology, 2024

N-Glycosylation as a Modulator of Protein Conformation and Assembly in Disease.

Pasala C et al.

Biomolecules, 2024

The first meta-analysis of the G96S single nucleotide polymorphism (SNP) of the prion protein gene (PRNP) with chronic wasting disease in white-tailed deer.

Won SY et al.

Frontiers in Veterinary Science, 2024

Arg177 and Asp159 from dog prion protein slow liquid-liquid phase separation and inhibit amyloid formation of human prion protein.

Li XN et al.

The Journal of Biological Chemistry, 2023

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

Novel Prion Protein Gene Polymorphisms in Awassi Sheep in Three Regions of the Fertile Crescent.

Rashaydeh FS et al.

Veterinary Sciences, 2023

A single protective polymorphism in the prion protein blocks cross-species prion replication in cultured cells.

Arshad H et al.

Journal of Neurochemistry, 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

Conformation-Dependent Influences of Hydrophobic Amino Acids in Two In-Register Parallel β-Sheet Amyloids, an α-Synuclein Amyloid and a Local Structural Model of PrPSc.

Otaki H et al.

Acs Omega, 2022

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

Kroll F et al.

Scientific Reports, 2022

Engineered pegRNAs improve prime editing efficiency.

Nelson JW et al.

Nature Biotechnology, 2022

Prion Protein Biology Through the Lens of Liquid-Liquid Phase Separation.

Agarwal A et al.

Journal of Molecular Biology, 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

Zn(II) binding causes interdomain changes in the structure and flexibility of the human prion protein.

Gielnik M et al.

Scientific Reports, 2021

Structure of prion β-oligomers as determined by short-distance crosslinking constraint-guided discrete molecular dynamics simulations.

Serpa JJ et al.

Proteomics, 2021

1H, 13C, 15N backbone and side-chain resonance assignments of the pathogenic G131V mutant of human prion protein (91-231).

Zhang Q et al.

Biomolecular Nmr Assignments, 2021

How an Infection of Sheep Revealed Prion Mechanisms in Alzheimer's Disease and Other Neurodegenerative Disorders.

Carlson GA et al.

International Journal of Molecular Sciences, 2021

The G127V variant of the prion protein interferes with dimer formation in vitro but not in cellulo.

Sangeetham SB et al.

Scientific Reports, 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

Structural effects of the highly protective V127 polymorphism on human prion protein.

Hosszu LLP et al.

Communications Biology, 2020

Cryo-EM structure of a human prion fibril with a hydrophobic, protease-resistant core.

Glynn C et al.

Nature Structural & Molecular Biology, 2020

Five novel PRNP gene polymorphisms and their potential effect on Scrapie susceptibility in three native Ethiopian sheep breeds.

Teferedegn EY et al.

Bmc Veterinary Research, 2020

Neutralizing Mutations Significantly Inhibit Amyloid Formation by Human Prion Protein and Decrease Its Cytotoxicity.

Huang JJ et al.

Journal of Molecular Biology, 2020

A Transient Intermediate Populated in Prion Folding Leads to Domain Swapping.

Mondal B et al.

Biochemistry, 2020

Biophysical characterization of oligomerization and fibrillization of the G131V pathogenic mutant of human prion protein.

Zhang M et al.

Acta Biochimica Et Biophysica Sinica, 2019

Genetic Factors in Mammalian Prion Diseases.

Mead S et al.

Annual Review of Genetics, 2019

Search-and-replace genome editing without double-strand breaks or donor DNA.

Anzalone AV et al.

Nature, 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

Atomic insight into prion disorder: An intricate detail gained by 0.5 μs molecular dynamics simulation of preventive G127V and deleterious D178V mutation in prion protein.

Gharemirshamlu FR et al.

Journal of Cellular Biochemistry, 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

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

Pressure Reveals Unique Conformational Features in Prion Protein Fibril Diversity.

Torrent J et al.

Scientific Reports, 2019

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

Zheng Z et al.

Scientific Reports, 2018

Genetic PrP Prion Diseases.

Kim MO et al.

Cold Spring Harbor Perspectives in Biology, 2018

1–50 of 83 papers
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."