The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management. (Q47203276)

http://europepmc.org/abstract/MED/29305691

11 January 2018

title

The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management. (English)

1 reference

http://europepmc.org/abstract/MED/29305691

11 January 2018

main subject

cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome

1 reference

6

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2 June 2020

Cécile Delettre

10

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2 June 2020

Toke Bek

14

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2 June 2020

Barbara Vona

25

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2 June 2020

Tobias Moser

30

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2 June 2020

author name string

Lisbeth Tranebjærg

1

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2 June 2020

Nicola Strenzke

2

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2 June 2020

Sture Lindholm

3

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2 June 2020

Nanna D Rendtorff

4

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2 June 2020

Hanne Poulsen

5

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2 June 2020

Wojciech Kopec

7

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2 June 2020

Troels J Brünnich Lyngbye

8

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2 June 2020

Christian Hamel

9

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Beatrice Bocquet

11

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Michael Bille

12

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Hanne H Owen

13

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Hanne Jensen

15

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Karen Østergaard

16

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Claes Möller

17

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Linda Luxon

18

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2 June 2020

Lucinda Carr

19

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Louise Wilson

20

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2 June 2020

Kaukab Rajput

21

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2 June 2020

Tony Sirimanna

22

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2 June 2020

Katherine Harrop-Griffiths

23

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2 June 2020

Shamima Rahman

24

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2 June 2020

Julia Doll

26

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2 June 2020

Thomas Haaf

27

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Oliver Bartsch

28

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Hendrik Rosewich

29

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Maria Bitner-Glindzicz

31

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2 June 2020

publication date

5 January 2018

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http://europepmc.org/abstract/MED/29305691

11 January 2018

published in

Human Genetics

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2 June 2020

volume

137

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2 June 2020

page(s)

111-127

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2 June 2020

issue

2

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https://scigraph.springernature.com/pub.10.1007/s00439-017-1862-z

2 June 2020

exact match

0 references

cites work

An energy budget for signaling in the grey matter of the brain

1 reference

https://api.crossref.org/works/10.1007%2FS00439-017-1862-Z

The Bkb (Bamford-Kowal-Bench) Sentence Lists for Partially-Hearing Children

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-017-1862-Z

[Characteristics, advantages, and limits of matrix tests].

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-017-1862-Z

The Structure and Function of the Na,K-ATPase Isoforms in Health and Disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-017-1862-Z

Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-017-1862-Z

A novel recurrent mutation in ATP1A3 causes CAPOS syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-017-1862-Z

DANTALE: a new Danish speech material

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-017-1862-Z

Function of FXYD proteins, regulators of Na, K-ATPase

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-017-1862-Z

Auditory neuropathies: understanding their pathogenesis to illuminate intervention strategies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-017-1862-Z

Glutamate Water Gates in the Ion Binding Pocket of Na+ Bound Na+, K+-ATPase

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-017-1862-Z

Auditory neuropathy spectrum disorder (ANSD) and cochlear implantation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-017-1862-Z

CAOS-Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss: A Third Allelic Disorder of the ATP1A3 Gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-017-1862-Z

Distinct neurological disorders with ATP1A3 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-017-1862-Z

Tuning of the Na,K-ATPase by the beta subunit

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-017-1862-Z

Three distinct and sequential steps in the release of sodium ions by the Na+/K+-ATPase

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-017-1862-Z

Stimulated acoustic emissions from within the human auditory system

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-017-1862-Z

The third sodium binding site of Na,K-ATPase is functionally linked to acidic pH-activated inward current.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-017-1862-Z

The Genetic Homogeneity of CAPOS Syndrome: Four New Patients With the c.2452G>A (p.Glu818Lys) Mutation in the ATP1A3 Gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-017-1862-Z

Distribution of immunoreactive alpha- and beta-subunit isoforms of Na,K-ATPase in the gerbil inner ear.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-017-1862-Z

Distribution of the Na,K-ATPase alpha subunit in the rat spiral ganglion and organ of corti.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-017-1862-Z

Crystal structure of the sodium–potassium pump

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-017-1862-Z

Auditory neuropathy--neural and synaptic mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-017-1862-Z

Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS): a new syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-017-1862-Z

ISCEV standard for clinical visual evoked potentials (2009 update).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-017-1862-Z

ISCEV standard for clinical visual evoked potentials: (2016 update).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-017-1862-Z

Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-017-1862-Z

CAPOS syndrome and hemiplegic migraine in a novel pedigree with the specific ATP1A3 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-017-1862-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-017-1862-Z

Structure-function relationships in the Na,K-ATPase alpha subunit: site-directed mutagenesis of glutamine-111 to arginine and asparagine-122 to aspartic acid generates a ouabain-resistant enzyme

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-017-1862-Z

Pathophysiological mechanisms and functional hearing consequences of auditory neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-017-1862-Z

Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-017-1862-Z

Phenotypic overlap of alternating hemiplegia of childhood and CAPOS syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-017-1862-Z

Results of cochlear implantation in two children with mutations in the OTOF gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-017-1862-Z

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-017-1862-Z

Distribution of Na,K-ATPase α subunits in rat vestibular sensory epithelia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-017-1862-Z

Crystal structure of the sodium-potassium pump at 2.4 A resolution

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-017-1862-Z

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-017-1862-Z

Transient deafness due to temperature-sensitive auditory neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-017-1862-Z

The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-017-1862-Z

The two C-terminal tyrosines stabilize occluded Na/K pump conformations containing Na or K ions

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-017-1862-Z

Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-017-1862-Z

Cell-specific expression of mRNAs encoding Na+,K(+)-ATPase alpha- and beta-subunit isoforms within the rat central nervous system

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-017-1862-Z

Alternating Hemiplegia of Childhood mutations have a differential effect on Na(+),K(+)-ATPase activity and ouabain binding.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-017-1862-Z

Altered Na+ transport after an intracellular alpha-subunit deletion reveals strict external sequential release of Na+ from the Na/K pump

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-017-1862-Z

Protonation of key acidic residues is critical for the K⁺-selectivity of the Na/K pump

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-017-1862-Z

Temperature sensitive auditory neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-017-1862-Z

The Göttingen audiometric speech test for children. I. Speech audiometry of the young and retarded child by a picture-test (author's transl)

21 January 2018

1 reference

12 December 2020

Na,K-ATPase alpha- and beta-isoforms in the developing cochlea of the mouse

1 reference

12 December 2020

Dual-function vector for protein expression in both mammalian cells and Xenopus laevis oocytes.

1 reference

12 December 2020

Molecular Mechanism of Na+,K+-ATPase Malfunction in Mutations Characteristic of Adrenal Hypertension

1 reference

12 December 2020

10.1007/S00439-017-1862-Z

Identifiers

DOI

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29305691%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

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