Literature DB >> 19652145

Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation.

I A Anselm1, K J Sweadner, S Gollamudi, L J Ozelius, B T Darras.   

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Year:  2009        PMID： 19652145      PMCID： PMC2833268          DOI： 10.1212/WNL.0b013e3181b04acd

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  7 in total

1.  Crystal structure of the sodium-potassium pump.

Authors:  J Preben Morth; Bjørn P Pedersen; Mads S Toustrup-Jensen; Thomas L-M Sørensen; Janne Petersen; Jens Peter Andersen; Bente Vilsen; Poul Nissen
Journal:  Nature       Date:  2007-12-13       Impact factor: 49.962

2.  Variable phenotype of rapid-onset dystonia-parkinsonism.

Authors:  A Brashear; M R Farlow; I J Butler; E J Kasarskis; W B Dobyns
Journal:  Mov Disord       Date:  1996-03       Impact factor: 10.338

3.  Amino acid substitutions in the rat Na+, K(+)-ATPase alpha 2-subunit alter the cation regulation of pump current expressed in HeLa cells.

Authors:  S Yamamoto; T A Kuntzweiler; E T Wallick; N Sperelakis; A Yatani
Journal:  J Physiol       Date:  1996-09-15       Impact factor: 5.182

4.  Alanine scanning mutagenesis of oxygen-containing amino acids in the transmembrane region of the Na,K-ATPase.

Authors:  J M Argüello; J Whitis; J B Lingrel
Journal:  Arch Biochem Biophys       Date:  1999-07-15       Impact factor: 4.013

5.  Rapid-onset dystonia-parkinsonism: a clinical and genetic analysis of a new kindred.

Authors:  S J Pittock; C Joyce; V O'Keane; B Hugle; M O Hardiman; F Brett; A J Green; D E Barton; M D King; D W Webb
Journal:  Neurology       Date:  2000-10-10       Impact factor: 9.910

6.  The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene.

Authors:  Allison Brashear; William B Dobyns; Patricia de Carvalho Aguiar; Michel Borg; C J M Frijns; Seema Gollamudi; Andrew Green; João Guimaraes; Bret C Haake; Christine Klein; Gurutz Linazasoro; Alexander Münchau; Deborah Raymond; David Riley; Rachel Saunders-Pullman; Marina A J Tijssen; David Webb; Jacek Zaremba; Susan B Bressman; Laurie J Ozelius
Journal:  Brain       Date:  2007-02-04       Impact factor: 13.501

7.  Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism.

Authors:  Patricia de Carvalho Aguiar; Kathleen J Sweadner; John T Penniston; Jacek Zaremba; Liu Liu; Marsha Caton; Gurutz Linazasoro; Michel Borg; Marina A J Tijssen; Susan B Bressman; William B Dobyns; Allison Brashear; Laurie J Ozelius
Journal:  Neuron       Date:  2004-07-22       Impact factor: 17.173
  7 in total
  28 in total

1.  The rapid-onset dystonia parkinsonism mutation D923N of the Na+, K+-ATPase alpha3 isoform disrupts Na+ interaction at the third Na+ site.

Authors:  Anja Pernille Einholm; Mads S Toustrup-Jensen; Rikke Holm; Jens Peter Andersen; Bente Vilsen
Journal:  J Biol Chem       Date:  2010-06-24       Impact factor: 5.157

2.  Neurological disease mutations compromise a C-terminal ion pathway in the Na(+)/K(+)-ATPase.

Authors:  Hanne Poulsen; Himanshu Khandelia; J Preben Morth; Maike Bublitz; Ole G Mouritsen; Jan Egebjerg; Poul Nissen
Journal:  Nature       Date:  2010-08-15       Impact factor: 49.962

3.  Factors in the disease severity of ATP1A3 mutations: Impairment, misfolding, and allele competition.

Authors:  Elena Arystarkhova; Ihtsham U Haq; Timothy Luebbert; Fanny Mochel; Rachel Saunders-Pullman; Susan B Bressman; Polina Feschenko; Cynthia Salazar; Jared F Cook; Scott Demarest; Allison Brashear; Laurie J Ozelius; Kathleen J Sweadner
Journal:  Neurobiol Dis       Date:  2019-08-16       Impact factor: 5.996

4.  Rescue of Na+ affinity in aspartate 928 mutants of Na+,K+-ATPase by secondary mutation of glutamate 314.

Authors:  Rikke Holm; Anja P Einholm; Jens P Andersen; Bente Vilsen
Journal:  J Biol Chem       Date:  2015-02-24       Impact factor: 5.157

5.  Rapid-Onset Dystonia-Parkinsonism in a Chinese Girl with a De Novo ATP1A3 c.2267G>A (p.R756H) Genetic Mutation.

Authors:  Ai Huey Tan; Laurie J Ozelius; Allison Brashear; Anthony E Lang; Azlina Ahmad-Annuar; Chong Tin Tan; Shen-Yang Lim
Journal:  Mov Disord Clin Pract       Date:  2014-12-30

6.  A Distinct Phenotype in a Novel ATP1A3 Mutation: Connecting the Two Ends of a Spectrum.

Authors:  Pedro Pereira; Andreia Guerreiro; Maria Fonseca; Cristina Halpern; Jorge Pinto-Basto; José P Monteiro
Journal:  Mov Disord Clin Pract       Date:  2015-11-28

7.  Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing.

Authors:  Michael Zech; Robert Jech; Matias Wagner; Tobias Mantel; Sylvia Boesch; Michael Nocker; Angela Jochim; Riccardo Berutti; Petra Havránková; Anna Fečíková; David Kemlink; Jan Roth; Tim M Strom; Werner Poewe; Evžen Růžička; Bernhard Haslinger; Juliane Winkelmann
Journal:  Neurogenetics       Date:  2017-08-28       Impact factor: 2.660

8.  A Transgenic Mouse Model to Selectively Identify α3 Na,K-ATPase Expressing Cells in the Nervous System.

Authors:  Maxim Dobretsov; Abdallah Hayar; Neriman T Kockara; Maxim Kozhemyakin; Kim E Light; Pankaj Patyal; Dwight R Pierce; Patricia A Wight
Journal:  Neuroscience       Date:  2018-07-19       Impact factor: 3.590

Review 9.  Episodic movement disorders: from phenotype to genotype and back.

Authors:  Knut Brockmann
Journal:  Curr Neurol Neurosci Rep       Date:  2013-10       Impact factor: 5.081

Review 10.  ATP1A3 mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia.

Authors:  Allison Brashear; Jonathan W Mink; Deborah F Hill; Niki Boggs; W Vaughn McCall; Mark A Stacy; Beverly Snively; Laney S Light; Kathleen J Sweadner; Laurie J Ozelius; Leslie Morrison
Journal:  Dev Med Child Neurol       Date:  2012-08-28       Impact factor: 5.449
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