ArticleJournal of the American Society of Nephrology : JASN2010
Molecular basis of decreased Kir4.1 function in SeSAME/EAST syndrome.
Article in Journal of the American Society of Nephrology : JASN, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.
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Who cites it
37 citing papers in PubMed, 66 citations in OpenAlex.
- A critical residue mediates proper assembly and gating of GIRK2 channels.The Journal of general physiology · 2026Article
- Expanding the genotypic and phenotypic spectrum of EAST/SeSAME syndrome: identification of a novel homozygous mutation (c.194 G > A) in KCNJ10 gene.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Article
- Inwardly rectifying KAmerican journal of physiology. Cell physiology · 2022Review
- EAST/SeSAME Syndrome and Beyond: The Spectrum of Kir4.1- and Kir5.1-Associated Channelopathies.Frontiers in physiology · 2022Review
- Membrane pools of phosphatidylinositol-4-phosphate regulate KCNQ1/KCNE1 membrane expression.Communications biology · 2021Article
- A case series of adult patients affected by EAST/SeSAME syndrome suggests more severe disease in subjects bearingIntractable & rare diseases research · 2021Article
- Mechanisms coupling sodium and magnesium reabsorption in the distal convoluted tubule of the kidney.Acta physiologica (Oxford, England) · 2021Review
- Deletion ofFrontiers in cell and developmental biology · 2021Article
- Expression, localization, and functional properties of inwardly rectifying KAmerican journal of physiology. Renal physiology · 2020Review
- Role of Astrocytic Inwardly Rectifying Potassium (Kir) 4.1 Channels in Epileptogenesis.Frontiers in neurology · 2020Review
- Statin-specific inhibition of Rab-GTPase regulates cPKC-mediated IKs internalization.Scientific reports · 2019Article
- Disease Associated Mutations in KBiomolecules · 2019Review
- Fluvastatin inhibits Rab5-mediated IKs internalization caused by chronic CaJournal of molecular and cellular cardiology · 2019Article
- Potassium conservation is impaired in mice with reduced renal expression of Kir4.1.American journal of physiology. Renal physiology · 2018Article
- Human astrocytes in the diseased brain.Brain research bulletin · 2018Review
- Lethal digenic mutations in the KJournal of neurophysiology · 2017Article
- A Missense Variant inG3 (Bethesda, Md.) · 2017Article
- Role and mechanisms of regulation of the basolateral KActa physiologica (Oxford, England) · 2017Review
- Epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome in a European child withSAGE open medical case reports · 2017Article
- Founder mutation in KCNJ10 in Pakistani patients with EAST syndrome.Molecular genetics & genomic medicine · 2016Article
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Authors and funding
8 authors at 4 institutions in 1 country.
Funding
Abstract
SeSAME/EAST syndrome is a channelopathy consisting of a hypokalemic, hypomagnesemic, metabolic alkalosis associated with seizures, sensorineural deafness, ataxia, and developmental abnormalities. This disease links to autosomal recessive mutations in KCNJ10, which encodes the Kir4.1 potassium channel, but the functional consequences of these mutations are not well understood. In Xenopus oocytes, all of the disease-associated mutant channels (R65P, R65P/R199X, G77R, C140R, T164I, and A167V/R297C) had decreased K(+) current (0 to 23% of wild-type levels). Immunofluorescence demonstrated decreased surface expression of G77R, C140R, and A167V expressed in HEK293 cells. When we coexpressed mutant and wild-type subunits to mimic the heterozygous state, R199X, C140R, and G77R currents decreased to 55, 40, and 20% of wild-type levels, respectively, suggesting that carriers of these mutations may present with an abnormal phenotype. Because Kir4.1 subunits can form heteromeric channels with Kir5.1, we coexpressed the aforementioned mutants with Kir5.1 and found that currents were reduced at least as much as observed when we expressed mutants alone. Reduction of pH(i) from approximately 7.4 to 6.8 significantly decreased currents of all mutants except R199X but did not affect wild-type channels. In conclusion, perturbed pH gating may underlie the loss of channel function for the disease-associated mutant Kir4.1 channels and may have important physiologic consequences.
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