Literature DB >> 25737287

Novel compound heterozygous mutations in PRKRA cause pure dystonia.

Patricia de Carvalho Aguiar1,2, Vanderci Borges2, Henrique Ballalai Ferraz2, Laurie Jean Ozelius3.   

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Year:  2015        PMID： 25737287      PMCID： PMC4439278          DOI： 10.1002/mds.26175

Source DB:  PubMed          Journal:  Mov Disord        ISSN： 0885-3185            Impact factor:   10.338


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  6 in total

1.  Screening of Brazilian families with primary dystonia reveals a novel THAP1 mutation and a de novo TOR1A GAG deletion.

Authors:  Patricia De Carvalho Aguiar; Tania Fuchs; Vanderci Borges; Kay-Marie Lamar; Sonia Maria Azevedo Silva; Henrique Ballalai Ferraz; Laurie Ozelius
Journal:  Mov Disord       Date:  2010-12-15       Impact factor: 10.338

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

Authors:  Monica E Lemmon; Bennett Lavenstein; Carolyn D Applegate; Ada Hamosh; Aylin Tekes; Harvey S Singer
Journal:  Mov Disord       Date:  2013-10-18       Impact factor: 10.338

3.  DYT16 revisited: exome sequencing identifies PRKRA mutations in a European dystonia family.

Authors:  Michael Zech; Florian Castrop; Barbara Schormair; Angela Jochim; Thomas Wieland; Nadine Gross; Peter Lichtner; Annette Peters; Christian Gieger; Thomas Meitinger; Tim M Strom; Konrad Oexle; Bernhard Haslinger; Juliane Winkelmann
Journal:  Mov Disord       Date:  2014-08-20       Impact factor: 10.338

4.  A heterozygous frameshift mutation in PRKRA (DYT16) associated with generalised dystonia in a German patient.

Authors:  Philip Seibler; Ana Djarmati; Brigitte Langpap; Johann Hagenah; Alexander Schmidt; Norbert Brüggemann; Hartwig Siebner; Hans-Christian Jabusch; Eckart Altenmüller; Alexander Münchau; Katja Lohmann; Christine Klein
Journal:  Lancet Neurol       Date:  2008-05       Impact factor: 44.182

5.  DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA.

Authors:  Sarah Camargos; Sonja Scholz; Javier Simón-Sánchez; Coro Paisán-Ruiz; Patrick Lewis; Dena Hernandez; Jinhui Ding; J Raphael Gibbs; Mark R Cookson; Jose Bras; Rita Guerreiro; Catarina Resende Oliveira; Andrew Lees; John Hardy; Francisco Cardoso; Andrew B Singleton
Journal:  Lancet Neurol       Date:  2008-02-01       Impact factor: 44.182

6.  A general framework for estimating the relative pathogenicity of human genetic variants.

Authors:  Martin Kircher; Daniela M Witten; Preti Jain; Brian J O'Roak; Gregory M Cooper; Jay Shendure
Journal:  Nat Genet       Date:  2014-02-02       Impact factor: 38.330
  6 in total
  4 in total

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

Authors:  Samuel B Burnett; Lauren S Vaughn; Joelle M Strom; Ashley Francois; Rekha C Patel
Journal:  J Cell Biochem       Date:  2019-06-27       Impact factor: 4.429

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

Authors:  Lauren S Vaughn; Kenneth Frederick; Samuel B Burnett; Nutan Sharma; D Cristopher Bragg; Sarah Camargos; Francisco Cardoso; Rekha C Patel
Journal:  Biomolecules       Date:  2022-05-17

3.  The protein activator of protein kinase R, PACT/RAX, negatively regulates protein kinase R during mouse anterior pituitary development.

Authors:  Benjamin K Dickerman; Christine L White; Patricia M Kessler; Anthony J Sadler; Bryan R G Williams; Ganes C Sen
Journal:  FEBS J       Date:  2015-10-26       Impact factor: 5.542

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

Authors:  Lauren S Vaughn; D Cristopher Bragg; Nutan Sharma; Sarah Camargos; Francisco Cardoso; Rekha C Patel
Journal:  J Biol Chem       Date:  2015-07-31       Impact factor: 5.157
  4 in total

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