(Q24324107)

potassium ion transmembrane transport

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

1 reference

9

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Adam Strzelczyk

Adam Strzelczyk

7

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Giovanni Stevanin

Giovanni Stevanin

3

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Alexandra Durr

10

Alexandra Dürr

0 references

Sylvie Forlani

6

Sylvie Forlani

0 references

Karla P Figueroa

1

Karla P Figueroa

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Natali A Minassian

2

Natali A Minassian

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Katrin Bürk

8

Katrin Bürk

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Diane M Papazian

11

Diane M Papazian

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author name string

Michael Waters

4

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Vartan Garibyan

5

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Stefan M Pulst

Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans

12

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language of work or name

English

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publication date

February 2010

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published in

Human Mutation

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volume

31

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issue

2

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page(s)

191-6

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cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2814913

NCBI reference sequences (RefSeq): a curated non-redundant sequence database of genomes, transcripts and proteins

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2814913

Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2814913

Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11.

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2814913

Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2814913

An autosomal dominant ataxia maps to 19q13: Allelic heterogeneity of SCA13 or novel locus?

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2814913

Crystal structure of a mammalian voltage-dependent Shaker family K+ channel

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2814913

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2814913

Gating pore currents in DIIS4 mutations of NaV1.4 associated with periodic paralysis: saturation of ion flux and implications for disease pathogenesis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2814913

Spinocerebellar ataxia type 28: a novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2814913

Protein kinase C modulates inactivation of Kv3.3 channels

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2814913

Spectrin mutations cause spinocerebellar ataxia type 5.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2814913

Kv3.3 potassium channels in lens epithelium and corneal endothelium

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2814913

Alteration of voltage-dependence of Shaker potassium channel by mutations in the S4 sequence

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2814913

Contribution of the S4 segment to gating charge in the Shaker K+ channel.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2814913

Gating pore current in an inherited ion channelopathy.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2814913

Voltage sensor of Kv1.2: structural basis of electromechanical coupling

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2814913

Spinocerebellar ataxia type 14 caused by a mutation in protein kinase C gamma

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2814913

Voltage-sensing residues in the S2 and S4 segments of the Shaker K+ channel

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2814913

29 November 2018

Identifiers

DOI

10.1002/HUMU.21165

1 reference

1 reference

1 reference

PubMed publication ID

19953606

1 reference