Varaico: Literature-Extracted Genetic Variants

Gene:PRNP
Variant:p.M109I
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PRNP

NM_000311.5:p.M109I

Associated Papers

Overexpression of bank vole PrP(I109) in mice induces a spontaneous atypical prion disease with sex-dependent onset, early NfL elevation, and universal prion strain permissiveness.

Eraña H et al.

Acta Neuropathologica Communications, 2026

Substitution of histidine 95 by tyrosine in the prion protein causes spontaneous neurodegeneration in transgenic mice.

Torres JM et al.

Plos Pathogens, 2025

Infecting human brain organoids with FFI or sCJD preserves prion traits regardless of host genotype.

Groveman BR et al.

Npj Dementia, 2025

Altered energy metabolism in Fatal Familial Insomnia cerebral organoids is associated with astrogliosis and neuronal dysfunction.

Foliaki ST et al.

Plos Genetics, 2023

Pathogenic Prion Protein Isoforms Are Not Present in Cerebral Organoids Generated from Asymptomatic Donors Carrying the E200K Mutation Associated with Familial Prion Disease.

Foliaki ST et al.

Pathogens (basel, Switzerland), 2020

Genetic Factors in Mammalian Prion Diseases.

Mead S et al.

Annual Review of Genetics, 2019

Pressure Reveals Unique Conformational Features in Prion Protein Fibril Diversity.

Torrent J et al.

Scientific Reports, 2019

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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."