Varaico: Literature-Extracted Genetic Variants

Gene:PRNP
Variant:p.W31*
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PRNP

NM_000311.5:p.W31*

Associated Papers

In vivo base editing extends lifespan of a humanized mouse model of prion disease.

An M et al.

Nature Medicine, 2025

39810005 (PubMed )
Supplement: 41591_2024_3466_MOESM3_ESM.xlsx › SI_Table_6_sgRNA_sequences

Drosophila melanogaster as a model to study autophagy in neurodegenerative diseases induced by proteinopathies.

Santarelli S et al.

Frontiers in Neuroscience, 2023

Variation in the vulnerability of mice expressing human superoxide dismutase 1 to prion-like seeding: a study of the influence of primary amino acid sequence.

Ayers JI et al.

Acta Neuropathologica Communications, 2021

Nucleotide variants in prion-related protein (testis-specific) gene (PRNT) and effects on Chinese and Mongolian sheep phenotypes.

Li J et al.

Prion, 2018

Distinct conformers of transmissible misfolded SOD1 distinguish human SOD1-FALS from other forms of familial and sporadic ALS.

Ayers JI et al.

Acta Neuropathologica, 2016

Neuron-specific expression of mutant superoxide dismutase is sufficient to induce amyotrophic lateral sclerosis in transgenic mice.

Jaarsma D et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2008

How do ALS-associated mutations in superoxide dismutase 1 promote aggregation of the protein?

Shaw BF et al.

Trends in Biochemical Sciences, 2007

Superoxide dismutase-1 mutation-related neurotoxicity in familial amyotrophic lateral sclerosis.

Shibata N et al.

Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders : Official Publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases, 2000

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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."