Mutations in the Na /K -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism (Q24299614)

Patricia de Carvalho Aguiar

GOA release 2020-03-11

2 references

parkinsonian syndrome

1 reference

William B Dobyns

11

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Patricia de Carvalho Aguiar

1

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Jacek Zaremba

Jacek Zaremba

4

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Allison Brashear

12

Allison Brashear

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Laurie Ozelius

13

Laurie J Ozelius

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Susan Bressman

10

Susan B Bressman

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Marina A. J. Tijssen

9

Marina A J Tijssen

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author name string

Kathleen J Sweadner

2

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John T Penniston

3

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Liu Liu

5

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Marsha Caton

6

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Gurutz Linazasoro

7

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Michel Borg

Rapid-onset dystonia-parkinsonism: linkage to chromosome 19q13

8

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language of work or name

English

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publication date

22 July 2004

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published in

Neuron

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volume

43

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issue

2

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page(s)

169-75

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cites work

1 reference

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PET imaging of the pre-synaptic dopamine uptake sites in rapid-onset dystonia-parkinsonism (RDP).

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Novel mutations in the Na , K -ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions

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Possible sporadic rapid-onset dystonia-parkinsonism

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The Crystallographic Structure of Na,K-ATPase N-domain at 2.6Å Resolution

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Comparison of ouabain-sensitive and -insensitive Na/K pumps in HEK293 cells

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Structure of the 5th transmembrane segment of the Na,K-ATPase alpha subunit: a cysteine-scanning mutagenesis study

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Classification and genetics of dystonia

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Crystal structure of the calcium pump of sarcoplasmic reticulum at 2.6 A resolution

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Structural changes in the calcium pump accompanying the dissociation of calcium

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Haploinsufficiency of ATP1A2 encoding the Na /K pump alpha2 subunit associated with familial hemiplegic migraine type 2

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ATP-induced conformational changes of the nucleotide-binding domain of Na,K-ATPase

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Role of the self-association of beta subunits in the oligomeric structure of Na /K -ATPase.

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Specific sequence changes in multiple transcript system DYT3 are associated with X-linked dystonia parkinsonism

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Homology modeling of the cation binding sites of Na K -ATPase

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Short and long range functions of amino acids in the transmembrane region of the sarcoplasmic reticulum ATPase. A mutational study

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Scanning mutagenesis reveals a similar pattern of mutation sensitivity in transmembrane sequences M4, M5, and M6, but not in M8, of the Ca2 -ATPase of sarcoplasmic reticulum (SERCA1a)

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The Na,K-ATPase alpha 2 isoform is expressed in neurons, and its absence disrupts neuronal activity in newborn mice

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The oligomeric nature of Na/K-transport ATPase

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Comparative protein structure modeling of genes and genomes

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Distribution and oligomeric association of splice forms of Na( )-K( )-ATPase regulatory gamma-subunit in rat kidney

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Rapid-onset dystonia-parkinsonism

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Rapid-onset dystonia-parkinsonism in a second family.

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

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A novel locus for inherited myoclonus-dystonia on 18p11.

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Immunofluorescent localization of three Na,K-ATPase isozymes in the rat central nervous system: both neurons and glia can express more than one Na,K-ATPase

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Neural dysfunction and neurodegeneration in Drosophila Na /K ATPase alpha subunit mutants.

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Degeneration of the amygdala/piriform cortex and enhanced fear/anxiety behaviors in sodium pump alpha2 subunit (Atp1a2)-deficient mice

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