Varaico: Literature-Extracted Genetic Variants

Gene:PRKRA
Variant:p.C213R
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PRKRA

NM_003690.5:p.C213R

Associated Papers

Luteolin protects DYT-PRKRA cells from apoptosis by suppressing PKR activation.

Frederick K et al.

Frontiers in Pharmacology, 2023

DYT-PRKRA Mutation P222L Enhances PACT's Stimulatory Activity on Type I Interferon Induction.

Vaughn LS et al.

Biomolecules, 2022

Dystonia 16 (DYT16) mutations in PACT cause dysregulated PKR activation and eIF2α signaling leading to a compromised stress response.

Burnett SB et al.

Neurobiology of Disease, 2020

A truncated PACT protein resulting from a frameshift mutation reported in movement disorder DYT16 triggers caspase activation and apoptosis.

Burnett SB et al.

Journal of Cellular Biochemistry, 2019

Altered activation of protein kinase PKR and enhanced apoptosis in dystonia cells carrying a mutation in PKR activator protein PACT.

Vaughn LS et al.

The Journal of Biological Chemistry, 2015

Novel compound heterozygous mutations in PRKRA cause pure dystonia.

de Carvalho Aguiar P et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2015

Reply to letter: Novel compound heterozygous mutations in PRKRA cause pure dystonia.

Zech M et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2015

A novel presentation of DYT 16: acute onset in infancy and association with MRI abnormalities.

Lemmon ME et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 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."