Varaico: Literature-Extracted Genetic Variants

Gene:PRNP
Variant:p.P60H
Back to variants list

PRNP

NM_000311.5:p.P60H

Associated Papers

TMED9 coordinates the clearance of misfolded GPI-anchored proteins out of the ER and into the Golgi.

Ronzier E et al.

Plos Biology, 2025

TMED9 coordinates the clearance of misfolded GPI-anchored proteins out of the endoplasmic reticulum and into the Golgi.

Ronzier E et al.

Biorxiv : the Preprint Server for Biology, 2025

SAYSD1 senses UFMylated ribosome to safeguard co-translational protein translocation at the endoplasmic reticulum.

Wang L et al.

Cell Reports, 2023

Thiol-disulfide status regulates quality control of prion protein at the plasma membrane.

Lee D et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2019

Prion dimer is heterogenous and is modulated by multiple negative and positive motifs.

Gao Z et al.

Biochemical and Biophysical Research Communications, 2019

Single octapeptide deletion selectively processes a pathogenic prion protein mutant on the cell surface.

Lee Y et al.

Biochemical and Biophysical Research Communications, 2016

The role of Cys179-Cys214 disulfide bond in the stability and folding of prion protein: insights from molecular dynamics simulations.

Ning L et al.

Journal of Molecular Modeling, 2014

Changing the solvent accessibility of the prion protein disulfide bond markedly influences its trafficking and effect on cell function.

Tabrett CA et al.

The Biochemical Journal, 2010

Searching for factors that distinguish disease-prone and disease-resistant prions via sequence analysis.

Kedarisetti KD et al.

Bioinformatics and Biology Insights, 2008

Overexpressed protein disulfide isomerase in brains of patients with sporadic Creutzfeldt-Jakob disease.

Yoo BC et al.

Neuroscience Letters, 2002

The role of disulfide bridge in the folding and stability of the recombinant human prion protein.

Maiti NR et al.

The Journal of Biological Chemistry, 2001

Prion protein glycosylation is sensitive to redox change.

Capellari S et al.

The Journal of Biological Chemistry, 1999

Activation of Src family kinase ameliorates secretory trafficking in mutant prion protein cells.

Restelli E et al.

The Journal of Biological Chemistry, 0

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."