Varaico: Literature-Extracted Genetic Variants

Gene:PRNP
Variant:p.I215V
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PRNP

NM_000311.5:p.I215V

Associated Papers

Effects of the pathological E200K mutation on human prion protein: A computational screening and molecular dynamics approach.

Gharemirshamloo FR et al.

Journal of Cellular Biochemistry, 2023

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

Kim YC et al.

Cells, 2020

First Report of the Potential Bovine Spongiform Encephalopathy (BSE)-Related Somatic Mutation E211K of the Prion Protein Gene (PRNP) in Cattle.

Won SY et al.

International Journal of Molecular Sciences, 2020

Atomic insights into the effects of pathological mutants through the disruption of hydrophobic core in the prion protein.

Lee J et al.

Scientific Reports, 2019

Genetic Factors in Mammalian Prion Diseases.

Mead S et al.

Annual Review of Genetics, 2019

Cerebrospinal Fluid Total Prion Protein in the Spectrum of Prion Diseases.

Villar-Piqué A et al.

Molecular Neurobiology, 2019

Early-onset Alzheimer's disease patient with prion (PRNP) p.Val180Ile mutation.

Bagyinszky E et al.

Neuropsychiatric Disease and Treatment, 2019

Genetic PrP Prion Diseases.

Kim MO et al.

Cold Spring Harbor Perspectives in Biology, 2018

Genetic Creutzfeldt-Jakob disease.

Ladogana A et al.

Handbook of Clinical Neurology, 2018

Characterization of mutations in PRNP (prion) gene and their possible roles in neurodegenerative diseases.

Bagyinszky E et al.

Neuropsychiatric Disease and Treatment, 2018

Genetic prion disease: Experience of a rapidly progressive dementia center in the United States and a review of the literature.

Takada LT et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2017

Mutational analysis of PRNP in Alzheimer's disease and frontotemporal dementia in China.

Zhang W et al.

Scientific Reports, 2016

Additional mechanisms conferring genetic susceptibility to Alzheimer's disease.

Calero M et al.

Frontiers in Cellular Neuroscience, 2015

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

Giachin G et al.

Molecules (basel, Switzerland), 2013

A novel mutation I215V in the PRNP gene associated with Creutzfeldt-Jakob and Alzheimer's diseases in three patients with divergent clinical phenotypes.

Muñoz-Nieto M et al.

Journal of Neurology, 2013

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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."