Identification and functional characterization of Kir2.6 mutations associated with non-familial hypokalemic periodic paralysis.
Open accessAbstract
VOLUME 286 (2011) PAGES 27425–27435 The correct Research Fund of Tri-Service General Hospital grant number is TSGH-C101-114.
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Mutations in the gene encoding Kir2.6 are associated with TPP and predispose these patients to acute paralytic attacks.
“Recent studies have shown that mutations in the gene encoding Kir2.6, a skeletal muscle-specific Kir channel, are associated with TPP and predispose these patients to acute paralytic attacks.”
From Thyrotoxic Periodic Paralysis: Clinical Challenges (2014) · cites this paper as [19]
Kir2.6 mutants exert a dominant negative effect on both WT Kir2.1 and Kir2.6 channels.
“Kir2.6 mutants exert a dominant negative effect on both WT Kir2.1 and Kir2.6 channels.”
From Thyrotoxic Periodic Paralysis: Clinical Challenges (2014) · cites this paper as [19]
Cheng et al. found three additional loss-of-function mutations in Kir2.6 channels in patients with TPP as well as sporadic periodic paralysis.
“Cheng et al. [19] found three additional loss-of-function mutations in Kir2.6 channels in patients with TPP as well as sporadic periodic paralysis.”
From Thyrotoxic Periodic Paralysis: Clinical Challenges (2014) · cites this paper as [19]
Kir2.6 forms functional homotetramer and heterotetramer with Kir2.1.
“Cheng et al. also reported that Kir2.6 forms functional homotetramer and heterotetramer with Kir2.1, another Kir channel in the skeletal muscle.”
From Thyrotoxic Periodic Paralysis: Clinical Challenges (2014) · cites this paper as [19]
Genetic mutations in the Kir2.6 channel play a role in the pathogenesis of TPP.
“Evidence is building up showing role of genetic mutations in Kir2.6 channel in the pathogenesis of TPP.”
From Thyrotoxic Periodic Paralysis: Clinical Challenges (2014) · cites this paper as [19]
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Thyrotoxic Periodic Paralysis: Clinical Challenges
Vijayakumar, A., Ashwath, G., & Thimmappa, D. (2014) · Journal of Thyroid Research · doi:10.1155/2014/649502 · Cited by 88 · see citing works
RetractedNovel Insights into the Pathomechanisms of Skeletal Muscle Channelopathies
Burge, J. A., & Hanna, M. G. (2011) · Current Neurology and Neuroscience Reports · doi:10.1007/s11910-011-0238-3 · Cited by 55 · see citing works
NovelKCNJ5Mutations in Sporadic Aldosterone-Producing Adenoma Reduce Kir3.4 Membrane Abundance
Cheng, C., Sung, C., Wu, S.-T., Lin, Y.-C., Sytwu, H., Huang, C.-L., & Lin, S. (2014) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2014-3009 · Cited by 52 · see citing works
Self-citationThyrotoxic, hypokalemic periodic paralysis (THPP) in adolescents
Al-Zubeidi, H., Demeterco, C., & Jones, K. L. (2014) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2014-0016 · Cited by 9 · see citing works
Insulin-induced severe thyrotoxic periodic paralysis: A case report
Wang, Y., & Li, J. (2024) · World Journal of Clinical Cases · doi:10.12998/wjcc.v13.i7.101214 · Cited by 3 · see citing works
Hypokalemic Paralysis Due to Hyperthyroidism and Energy Drink: Case Report
Ayas, Z. Ö., Öcal, R., Can, N. U., & Bölük, A. (2015) · Turkiye Klinikleri Journal of Neurology · doi:10.5336/neuro.2015-45214
- Authors
- Cheng, C.-J., Lin, S.-H., Lo, Y.-F., Yang, S.-S., Hsu, Y.-J., Cannon, S. C., & Huang, C.-L.
- Venue
- Journal of Biological Chemistry
- Publisher
- Elsevier BV
- Published
- 2011-09
- Volume
- 286
- Issue
- 38
- Pages
- 33707
- ISSN
- 0021-9258 (ISSN-L)
- PMC
- PMC3190918
- OpenAlex
- W2565373815
- Cited by
- 6
- References
- 0
- Citations by year
- 2024: 1 · 2015: 1 · 2014: 3
- FWCI
- 0.52
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Journal of Biological Chemistry (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Ion channel regulation and function
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiac electrophysiology and arrhythmias
- Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Potassium and Related Disorders
- Keywords
- potassium channel mutations, potassium channelopathy, ion channel function
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