Varaico: Literature-Extracted Genetic Variants

Gene:PRNP
Variant:p.Y225C
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PRNP

NM_000311.5:p.Y225C

Associated Papers

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

Kim DY et al.

International Journal of Molecular Sciences, 2022

Genetic prion diseases presenting as frontotemporal dementia: clinical features and diagnostic challenge.

Chen Z et al.

Alzheimer's Research & Therapy, 2022

Genetic analyses of early-onset Alzheimer's disease using next generation sequencing.

Giau VV et al.

Scientific Reports, 2019

31182772 (PubMed )
Supplement: 41598_2019_44848_MOESM1_ESM.pdf

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

Bagyinszky E et al.

Clinical Interventions in Aging, 2019

Disulfide-crosslink scanning reveals prion-induced conformational changes and prion strain-specific structures of the pathological prion protein PrPSc.

Taguchi Y et al.

The Journal of Biological Chemistry, 2018

29934306 (PubMed )
Supplement: supp_RA117.001633_134909_2_supp_154249_pbbnb5.pdf

Novel dominant-negative prion protein mutants identified from a randomized library.

Ott D et al.

Protein Engineering, Design & Selection : Peds, 2008

Enhanced stability of human prion proteins with two disulfide bridges.

Knowles TP et al.

Biophysical Journal, 2006

NMR structure of a variant human prion protein with two disulfide bridges.

Zahn R et al.

Journal of Molecular Biology, 2003

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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."