Literature DB >> 24142417

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

Monica E Lemmon1, Bennett Lavenstein, Carolyn D Applegate, Ada Hamosh, Aylin Tekes, Harvey S Singer.   

Abstract

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Year:  2013        PMID： 24142417     DOI： 10.1002/mds.25703

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


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  5 in total

1.  Novel compound heterozygous mutations in PRKRA cause pure dystonia.

Authors:  Patricia de Carvalho Aguiar; Vanderci Borges; Henrique Ballalai Ferraz; Laurie Jean Ozelius
Journal:  Mov Disord       Date:  2015-03-04       Impact factor: 10.338

2.  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

3.  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

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

Review 5.  A Practical Approach to Early-Onset Parkinsonism.

Authors:  Giulietta M Riboldi; Emanuele Frattini; Edoardo Monfrini; Steven J Frucht; Alessio Di Fonzo
Journal:  J Parkinsons Dis       Date:  2022       Impact factor: 5.568
  5 in total

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