Associated Papers
Genetic mutations in kinases: a comprehensive review on marketed inhibitors and unexplored targets in Parkinson's disease.
Raza A et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
Mutation in Prkra results in cerebellar abnormality and reduced eIF2α phosphorylation in a model of DYT-PRKRA.
Burnett SB et al.
Disease Models & Mechanisms, 2024
A frameshift mutation in the murine Prkra gene causes dystonia and exhibits abnormal cerebellar development and reduced eIF2α phosphorylation.
Burnett SB et al.
Biorxiv : the Preprint Server for Biology, 2024
Dissecting genetic architecture of rare dystonia: genetic, molecular and clinical insights.
Atasu B et al.
Journal of Medical Genetics, 2024
Genetics and Pathogenesis of Dystonia.
Thomsen M et al.
Annual Review of Pathology, 2024
Luteolin protects DYT-PRKRA cells from apoptosis by suppressing PKR activation.
Frederick K et al.
Frontiers in Pharmacology, 2023
PRKRAP1 Pseudogene Complicating the Diagnosis of Young-Onset Dystonia Due to PRKRA Gene Disease-Causing Variants (DYT-PRKRA).
Afonso Ribeiro J et al.
Movement Disorders Clinical Practice, 2022
DYT-PRKRA Mutation P222L Enhances PACT's Stimulatory Activity on Type I Interferon Induction.
Vaughn LS et al.
Biomolecules, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Uniparental disomy screen of Irish rare disorder cohort unmasks homozygous variants of clinical significance in the TMCO1 and PRKRA genes.
Molloy B et al.
Frontiers in Genetics, 2022
A Recurrent VPS16 p.Arg187* Nonsense Variant in Early-Onset Generalized Dystonia.
Ostrozovicova M et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2021
Combined dystonias: clinical and genetic updates.
Weissbach A et al.
Journal of Neural Transmission (vienna, Austria : 1996), 2021
EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia.
Kuipers DJS et al.
Annals of Neurology, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
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
Genetic analysis of Mendelian mutations in a large UK population-based Parkinson's disease study.
Tan MMX et al.
Brain : a Journal of Neurology, 2019
The prevalence of PRKRA mutations in idiopathic dystonia.
Dos Santos CO et al.
Parkinsonism & Related Disorders, 2018
Update on the Genetics of Dystonia.
Lohmann K et al.
Current Neurology and Neuroscience Reports, 2017
Understanding dystonia: diagnostic issues and how to overcome them.
Camargos S et al.
Arquivos De Neuro-psiquiatria, 2016
PRKRA Mutation Causing Early-Onset Generalized Dystonia-Parkinsonism (DYT16) in an Italian Family.
Quadri M et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2016
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
DYT16 revisited: exome sequencing identifies PRKRA mutations in a European dystonia family.
Zech M et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2014
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
Recent advances in the molecular pathogenesis of dystonia-plus syndromes and heredodegenerative dystonias.
Casper C et al.
Current Neuropharmacology, 2013
Use of next-generation sequencing and other whole-genome strategies to dissect neurological disease.
Bras J et al.
Nature Reviews. Neuroscience, 2012
Missense mutation in the second RNA binding domain reveals a role for Prkra (PACT/RAX) during skull development.
Dickerman BK et al.
Plos One, 2011
Genetics of primary torsion dystonia.
Brüggemann N et al.
Current Neurology and Neuroscience Reports, 2010
[Monogenetic dystonia: revisiting the dopaminergic hypothesis].
Blanchard A et al.
Revue Neurologique, 2010
A heterozygous frameshift mutation in PRKRA (DYT16) associated with generalised dystonia in a German patient.
Seibler P et al.
The Lancet. Neurology, 2008
DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA.
Camargos S et al.
The Lancet. Neurology, 2008