(Q34285417)

1 August 2017

title

Molecular mechanisms of EAST/SeSAME syndrome mutations in Kir4.1 (KCNJ10) (English)

1 reference

1 August 2017

Molecular Mechanisms of EAST/SeSAME Syndrome Mutations in Kir4.1 (KCNJ10) (English)

1 reference

https://api.crossref.org/works/10.1074/JBC.M110.163170

4 July 2024

2

Lilia Y. Kucheryavykh

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20807765

4 July 2024

3

Serguei N. Skatchkov

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20807765

4 July 2024

author name string

Monica Sala-Rabanal

series ordinal

1

1 reference

1 August 2017

Misty J. Eaton

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20807765

4 July 2024

Colin G. Nichols

series ordinal

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20807765

4 July 2024

language of work or name

English

0 references

publication date

31 August 2010

1 reference

full work available at URL

1 August 2017

http://www.jbc.org/content/285/46/36040.full.pdf

file format

Portable Document Format

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20807765

http://intl.jbc.org/cgi/content/abstract/285/46/36040

4 July 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20807765

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/20807765/pdf/?tool=EBI

4 July 2024

file format

Portable Document Format

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20807765

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/20807765/?tool=EBI

4 July 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20807765

https://europepmc.org/articles/PMC2975226

4 July 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20807765

https://europepmc.org/articles/PMC2975226?pdf=render

4 July 2024

file format

Portable Document Format

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20807765

https://doi.org/10.1074/jbc.m110.163170

4 July 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20807765

https://api.elsevier.com/content/article/PII:S002192582046942X?httpAccept=text/xml

4 July 2024

1 reference

https://api.crossref.org/works/10.1074/JBC.M110.163170

https://api.elsevier.com/content/article/PII:S002192582046942X?httpAccept=text/plain

4 July 2024

1 reference

https://api.crossref.org/works/10.1074/JBC.M110.163170

https://syndication.highwire.org/content/doi/10.1074/jbc.M110.163170

4 July 2024

1 reference

https://api.crossref.org/works/10.1074/JBC.M110.163170

Journal of Biological Chemistry

4 July 2024

published in

1 reference

1 August 2017

volume

285

1 reference

1 August 2017

issue

46

1 reference

1 August 2017

page(s)

36040-36048

1 reference

Potassium channel activity and glutamate uptake are impaired in astrocytes of seizure‐susceptible DBA/2 mice

1 August 2017

cites work

1 reference

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Variable loss of Kir4.1 channel function in SeSAME syndrome mutations.

6 July 2018

1 reference

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KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2975226

Inwardly rectifying potassium channel Kir4.1 is responsible for the native inward potassium conductance of satellite glial cells in sensory ganglia

6 July 2018

1 reference

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Crystal Structure of the Eukaryotic Strong Inward-Rectifier K+ Channel Kir2.2 at 3.1 A Resolution

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2975226

How is the highly positive endocochlear potential formed? The specific architecture of the stria vascularis and the roles of the ion-transport apparatus

6 July 2018

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Ischemia Increases TREK-2 Channel Expression in Astrocytes: Relevance to Glutamate Clearance

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2975226

Visual impairment in the absence of dystroglycan

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2975226

Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2975226

Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2975226

Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2975226

Conditional knock-out of Kir4.1 leads to glial membrane depolarization, inhibition of potassium and glutamate uptake, and enhanced short-term synaptic potentiation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2975226

H bonding at the helix-bundle crossing controls gating in Kir potassium channels

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2975226

Differential distribution of Kir4.1 in spinal cord astrocytes suggests regional differences in K+ homeostasis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2975226

Downregulation of Kir4.1 inward rectifying potassium channel subunits by RNAi impairs potassium transfer and glutamate uptake by cultured cortical astrocytes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2975226

Müller cells in the healthy and diseased retina

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2975226

Structural and functional analysis of the putative pH sensor in the Kir1.1 (ROMK) potassium channel

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2975226

The polyamine binding site in inward rectifier K+ channels.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2975226

Inwardly rectifying potassium channels (Kir) in central nervous system glia: a special role for Kir4.1 in glial functions

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2975226

Lack of the Kir4.1 channel subunit abolishes K+ buffering properties of astrocytes in the ventral respiratory group: impact on extracellular K+ regulation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2975226

PDZ-binding and di-hydrophobic motifs regulate distribution of Kir4.1 channels in renal cells.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2975226

Supportive evidence for an allelic association of the human KCNJ10 potassium channel gene with idiopathic generalized epilepsy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2975226

Contribution of Kir4.1 to the mouse electroretinogram

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2975226

Differential assembly of inwardly rectifying K+ channel subunits, Kir4.1 and Kir5.1, in brain astrocytes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2975226

PDZ binding motif-dependent localization of K+ channel on the basolateral side in distal tubules.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2975226

Association between variation in the human KCNJ10 potassium ion channel gene and seizure susceptibility

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2975226

Stabilization of the activity of ATP-sensitive potassium channels by ion pairs formed between adjacent Kir6.2 subunits

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2975226

Alterations in conserved Kir channel-PIP2 interactions underlie channelopathies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2975226

An inward rectifier K(+) channel at the basolateral membrane of the mouse distal convoluted tubule: similarities with Kir4-Kir5.1 heteromeric channels

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2975226

Gating of inward-rectifier K+ channels by intracellular pH.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2975226

In vivo formation of a proton-sensitive K+ channel by heteromeric subunit assembly of Kir5.1 with Kir4.1

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2975226

pH gating of ROMK (K(ir)1.1) channels: control by an Arg-Lys-Arg triad disrupted in antenatal Bartter syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2975226

pH-dependent gating of ROMK (Kir1.1) channels involves conformational changes in both N and C termini

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2975226

Inward rectifier potassium channels

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2975226

Differential expression and distribution of Kir5.1 and Kir4.1 inwardly rectifying K+ channels in retina

6 July 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.163170

pH dependence of the inwardly rectifying potassium channel, Kir5.1, and localization in renal tubular epithelia

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.163170

Kir potassium channel subunit expression in retinal glial cells: implications for spatial potassium buffering

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.163170

Diversity of Kir channel subunit mRNA expressed by retinal glial cells of the guinea-pig

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.163170

Kir subfamily in frog retina: specific spatial distribution of Kir 6.1 in glial (Müller) cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.163170

The Membrane Properties of Cochlear Root Cells are Consistent with Roles in Potassium Recirculation and Spatial Buffering

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.163170

Time course of inner ear degeneration and deafness in mice lacking the Kir4.1 potassium channel subunit

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.163170

Fine mapping of a seizure susceptibility locus on mouse Chromosome 1: nomination of Kcnj10 as a causative gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.163170

Variants of the genes encoding AQP4 and Kir4.1 are associated with subgroups of patients with temporal lobe epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.163170

Functional characterisation of missense variations in the Kir4.1 potassium channel (KCNJ10) associated with seizure susceptibility.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.163170

Polyamine permeation and rectification of Kir4.1 channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.163170

Guanosine promotes the up-regulation of inward rectifier potassium current mediated by Kir4.1 in cultured rat cortical astrocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.163170

Control of pH and PIP2 gating in heteromeric Kir4.1/Kir5.1 channels by H-Bonding at the helix-bundle crossing

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.163170

Classification and rescue of ROMK mutations underlying hyperprostaglandin E syndrome/antenatal Bartter syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.163170

Two critical cysteine residues implicated in disulfide bond formation and proper folding of Kir2.1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.163170

Kir4.1 potassium channel subunit is crucial for oligodendrocyte development and in vivo myelination.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2975226

Cyclic AMP-mediated regulation of the resting membrane potential in myelin-forming oligodendrocytes in the isolated intact rat optic nerve

28 October 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.163170

The possible role of a disulphide bond in forming functional Kir2.1 potassium channels

21 January 2018

1 reference

12 December 2020

Kir4.1/Kir5.1 channel forms the major K+ channel in the basolateral membrane of mouse renal collecting duct principal cells

1 reference

12 December 2020

New roles for renal potassium channels

1 reference

12 December 2020

Nucleotide modulation of the activity of rat heart ATP-sensitive K+ channels in isolated membrane patches

1 reference

12 December 2020

Identifiers

1 reference

1 August 2017

1 reference

1 August 2017

1 reference