Varaico: Literature-Extracted Genetic Variants

Gene:PRNP
Variant:p.V209M
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PRNP

NM_000311.5:p.V209M

Associated Papers

Genetic analysis reveals novel variants for vascular cognitive impairment.

Mönkäre S et al.

Acta Neurologica Scandinavica, 2022

35307828 (PubMed )
Supplement: ANE-146-42-s001.docx

Identification of Prion Disease-Related Somatic Mutations in the Prion Protein Gene (PRNP) in Cancer Patients.

Kim YC et al.

Cells, 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

Evaluating the causality of novel sequence variants in the prion protein gene by example.

Mok TH et al.

Neurobiology of Aging, 2018

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

Zheng Z et al.

Scientific Reports, 2018

Genetic screening in early-onset dementia patients with unclear phenotype: relevance for clinical diagnosis.

Perrone F et al.

Neurobiology of Aging, 2018

Structural mechanisms of oligomer and amyloid fibril formation by the prion protein.

Sengupta I et al.

Chemical Communications (cambridge, England), 2018

Interplay of buried histidine protonation and protein stability in prion misfolding.

Malevanets A et al.

Scientific Reports, 2017

Transgenic mice recapitulate the phenotypic heterogeneity of genetic prion diseases without developing prion infectivity: Role of intracellular PrP retention in neurotoxicity.

Chiesa R et al.

Prion, 2016

The prion protein gene polymorphisms associated with bovine spongiform encephalopathy susceptibility differ significantly between cattle and buffalo.

Zhao H et al.

Infection, Genetics and Evolution : Journal of Molecular Epidemiology and Evolutionary Genetics in Infectious Diseases, 2015

Pathological mutations H187R and E196K facilitate subdomain separation and prion protein conversion by destabilization of the native structure.

Hadži S et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2015

Probing early misfolding events in prion protein mutants by NMR spectroscopy.

Giachin G et al.

Molecules (basel, Switzerland), 2013

Thermodynamic stabilization of the folded domain of prion protein inhibits prion infection in vivo.

Kong Q et al.

Cell Reports, 2013

Mutation directional selection sheds light on prion pathogenesis.

Shen L et al.

Biochemical and Biophysical Research Communications, 2011

PRNP allelic series from 19 years of prion protein gene sequencing at the MRC Prion Unit.

Beck JA et al.

Human Mutation, 2010

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