Novel compound heterozygous mutations in PRKRA cause pure dystonia.
作者信息
de Carvalho Aguiar Patricia, Borges Vanderci, Ferraz Henrique Ballalai, Ozelius Laurie Jean
机构信息
Hospital Israelita Albert Einstein, Sao Paulo, SP, Brazil.
Universidade Federal de Sao Paulo, Department of Neurology and Neurosurgery, Sao Paulo, SP, Brazil.
出版信息
Mov Disord. 2015 May;30(6):877-8. doi: 10.1002/mds.26175. Epub 2015 Mar 4.
Abstract
摘要
相似文献
1
Novel compound heterozygous mutations in PRKRA cause pure dystonia.
Mov Disord. 2015 May;30(6):877-8. doi: 10.1002/mds.26175. Epub 2015 Mar 4.
2
Reply to letter: Novel compound heterozygous mutations in PRKRA cause pure dystonia.
Mov Disord. 2015 May;30(6):878-9. doi: 10.1002/mds.26233. Epub 2015 Apr 25.
3
DYT16 revisited: exome sequencing identifies PRKRA mutations in a European dystonia family.
Mov Disord. 2014 Oct;29(12):1504-10. doi: 10.1002/mds.25981. Epub 2014 Aug 20.
4
PRKRA Mutation Causing Early-Onset Generalized Dystonia-Parkinsonism (DYT16) in an Italian Family.
Mov Disord. 2016 May;31(5):765-7. doi: 10.1002/mds.26583. Epub 2016 Mar 17.
5
Early-Onset Dystonia, Exacerbation With Fever, and Striatal Signal Changes: Emerging Phenotype of DYT-.
Neurology. 2022 Aug 2;99(5):206-207. doi: 10.1212/WNL.0000000000200858. Epub 2022 Jun 3.
6
Clinically relevant copy-number variants in exome sequencing data of patients with dystonia.
Parkinsonism Relat Disord. 2021 Mar;84:129-134. doi: 10.1016/j.parkreldis.2021.02.013. Epub 2021 Feb 12.
7
Ataxia telangiectasia presenting as dopa-responsive cervical dystonia.
Neurology. 2013 Sep 24;81(13):1148-51. doi: 10.1212/WNL.0b013e3182a55fa2. Epub 2013 Aug 14.
8
DYT16: the original cases.
J Neurol Neurosurg Psychiatry. 2012 Oct;83(10):1012-4. doi: 10.1136/jnnp-2012-302841. Epub 2012 Jul 28.
9
Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing.
Neurogenetics. 2017 Dec;18(4):195-205. doi: 10.1007/s10048-017-0521-9. Epub 2017 Aug 28.
10
The prevalence of PRKRA mutations in idiopathic dystonia.
Parkinsonism Relat Disord. 2018 Mar;48:93-96. doi: 10.1016/j.parkreldis.2017.12.015. Epub 2017 Dec 13.
引用本文的文献
1
Mutation in Prkra results in cerebellar abnormality and reduced eIF2α phosphorylation in a model of DYT-PRKRA.
Dis Model Mech. 2024 Nov 1;17(11). doi: 10.1242/dmm.050929. Epub 2024 Nov 26.
2
A frameshift mutation in the murine gene causes dystonia and exhibits abnormal cerebellar development and reduced eIF2α phosphorylation.
bioRxiv. 2024 Jun 4:2024.06.04.597421. doi: 10.1101/2024.06.04.597421.
3
Luteolin protects DYT- cells from apoptosis by suppressing PKR activation.
Front Pharmacol. 2023 Feb 15;14:1118725. doi: 10.3389/fphar.2023.1118725. eCollection 2023.
4
DYT- Mutation P222L Enhances PACT's Stimulatory Activity on Type I Interferon Induction.
Biomolecules. 2022 May 17;12(5):713. doi: 10.3390/biom12050713.
5
A truncated PACT protein resulting from a frameshift mutation reported in movement disorder DYT16 triggers caspase activation and apoptosis.
J Cell Biochem. 2019 Nov;120(11):19004-19018. doi: 10.1002/jcb.29223. Epub 2019 Jun 27.
6
The protein activator of protein kinase R, PACT/RAX, negatively regulates protein kinase R during mouse anterior pituitary development.
FEBS J. 2015 Dec;282(24):4766-81. doi: 10.1111/febs.13533. Epub 2015 Oct 26.
7
Altered activation of protein kinase PKR and enhanced apoptosis in dystonia cells carrying a mutation in PKR activator protein PACT.
J Biol Chem. 2015 Sep 11;290(37):22543-57. doi: 10.1074/jbc.M115.669408. Epub 2015 Jul 31.
本文引用的文献
1
DYT16 revisited: exome sequencing identifies PRKRA mutations in a European dystonia family.
Mov Disord. 2014 Oct;29(12):1504-10. doi: 10.1002/mds.25981. Epub 2014 Aug 20.
2
A general framework for estimating the relative pathogenicity of human genetic variants.
Nat Genet. 2014 Mar;46(3):310-5. doi: 10.1038/ng.2892. Epub 2014 Feb 2.
3
A novel presentation of DYT 16: acute onset in infancy and association with MRI abnormalities.
Mov Disord. 2013 Dec;28(14):1937-8. doi: 10.1002/mds.25703. Epub 2013 Oct 18.
4
Screening of Brazilian families with primary dystonia reveals a novel THAP1 mutation and a de novo TOR1A GAG deletion.
Mov Disord. 2010 Dec 15;25(16):2854-7. doi: 10.1002/mds.23133.
5
A heterozygous frameshift mutation in PRKRA (DYT16) associated with generalised dystonia in a German patient.
Lancet Neurol. 2008 May;7(5):380-1. doi: 10.1016/S1474-4422(08)70075-9.
6
DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA.
Lancet Neurol. 2008 Mar;7(3):207-15. doi: 10.1016/S1474-4422(08)70022-X. Epub 2008 Feb 1.
Zotero 插件