Subfamili saluran berpagar tegangan kalium anggota A 1 yang juga dikenal sebagai Kv1.1 adalah saluran kalium berpagar tegangan terkait shaker yang pada manusia dikodekan oleh gen KCNA1.[1][2][3] Sindrom Isaacs merupakan hasil reaksi autoimun terhadap saluran ion Kv1.1.[4]
Lihat pula
- GABRA3 - subunit saluran yang mengalami pengeditan RNA serupa
Referensi
- ↑ Curran ME, Landes GM, Keating MT (1992). "Molecular cloning, characterization, and genomic localization of a human potassium channel gene". Genomics. 12 (4): 729–37. doi:10.1016/0888-7543(92)90302-9. PMID 1349297.
- ↑ Albrecht B, Weber K, Pongs O (1995). "Characterization of a voltage-activated K-channel gene cluster on human chromosome 12p13". Recept. Channels. 3 (3): 213–20. PMID 8821794.
- ↑ Gutman GA, Chandy KG, Grissmer S, Lazdunski M, McKinnon D, Pardo LA, Robertson GA, Rudy B, Sanguinetti MC, Stühmer W, Wang X (2005). "International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels". Pharmacol. Rev. 57 (4): 473–508. doi:10.1124/pr.57.4.10. PMID 16382104. S2CID 219195192.
- ↑ Newsom-Davis J (1997). "Autoimmune neuromyotonia (Isaacs' syndrome): an antibody-mediated potassium channelopathy". Ann. N. Y. Acad. Sci. 835 (1): 111–9. Bibcode:1997NYASA.835..111N. doi:10.1111/j.1749-6632.1997.tb48622.x. PMID 9616766. S2CID 13231594.
Bacaan lebih lanjut
- Grunnet M, Rasmussen HB, Hay-Schmidt A, et al. (2003). "KCNE4 is an inhibitory subunit to Kv1.1 and Kv1.3 potassium channels". Biophys. J. 85 (3): 1525–37. Bibcode:2003BpJ....85.1525G. doi:10.1016/S0006-3495(03)74585-8. PMC 1303329. PMID 12944270.
- Nie DY, Zhou ZH, Ang BT, et al. (2003). "Nogo-A at CNS paranodes is a ligand of Caspr: possible regulation of K(+) channel localization". EMBO J. 22 (21): 5666–78. doi:10.1093/emboj/cdg570. PMC 275427. PMID 14592966.
- Imbrici P, Cusimano A, D'Adamo MC, et al. (2003). "Functional characterization of an episodic ataxia type-1 mutation occurring in the S1 segment of hKv1.1 channels". Pflügers Arch. 446 (3): 373–9. doi:10.1007/s00424-002-0962-2. PMID 12799903. S2CID 21478393.
- Glaudemans B, van der Wijst J, Scola RH, et al. (2009). "A missense mutation in the Kv1.1 voltage-gated potassium channel-encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemia". J. Clin. Invest. 119 (4): 936–42. doi:10.1172/JCI36948. PMC 2662556. PMID 19307729.
- Shook SJ, Mamsa H, Jen JC, et al. (2008). "Novel mutation in KCNA1 causes episodic ataxia with paroxysmal dyspnea". Muscle Nerve. 37 (3): 399–402. doi:10.1002/mus.20904. PMID 17912752. S2CID 26175513.
- Gubitosi-Klug RA, Mancuso DJ, Gross RW (2005). "The human Kv1.1 channel is palmitoylated, modulating voltage sensing: Identification of a palmitoylation consensus sequence". Proc. Natl. Acad. Sci. U.S.A. 102 (17): 5964–8. Bibcode:2005PNAS..102.5964G. doi:10.1073/pnas.0501999102. PMC 1087951. PMID 15837928.
- Zhang ZH, Rhodes KJ, Childers WE, et al. (2004). "Disinactivation of N-type inactivation of voltage-gated K channels by an erbstatin analogue". J. Biol. Chem. 279 (28): 29226–30. doi:10.1074/jbc.M403290200. PMID 15136567.
- Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
- Jow F, Zhang ZH, Kopsco DC, et al. (2004). "Functional coupling of intracellular calcium and inactivation of voltage-gated Kv1.1/Kvbeta1.1 A-type K+ channels". Proc. Natl. Acad. Sci. U.S.A. 101 (43): 15535–40. Bibcode:2004PNAS..10115535J. doi:10.1073/pnas.0402081101. PMC 524431. PMID 15486093.
- Imbrici P, Grottesi A, D'Adamo MC, et al. (2009). "Contribution of the central hydrophobic residue in the PXP motif of voltage-dependent K+ channels to S6 flexibility and gating properties". Channels (Austin). 3 (1): 39–45. doi:10.4161/chan.3.1.7548. PMID 19202350.
- Kinali M, Jungbluth H, Eunson LH, et al. (2004). "Expanding the phenotype of potassium channelopathy: severe neuromyotonia and skeletal deformities without prominent Episodic Ataxia". Neuromuscul. Disord. 14 (10): 689–93. doi:10.1016/j.nmd.2004.06.007. PMID 15351427. S2CID 44972020.
- Demos MK, Macri V, Farrell K, et al. (2009). "A novel KCNA1 mutation associated with global delay and persistent cerebellar dysfunction". Mov. Disord. 24 (5): 778–82. doi:10.1002/mds.22467. PMID 19205071. S2CID 25655998.
- Imbrici P, Gualandi F, D'Adamo MC, et al. (2008). "A novel KCNA1 mutation identified in an Italian family affected by episodic ataxia type 1". Neuroscience. 157 (3): 577–87. doi:10.1016/j.neuroscience.2008.09.022. PMID 18926884. S2CID 15772885.
- Tan KM, Lennon VA, Klein CJ, et al. (2008). "Clinical spectrum of voltage-gated potassium channel autoimmunity". Neurology. 70 (20): 1883–90. doi:10.1212/01.wnl.0000312275.04260.a0. PMID 18474843. S2CID 34815377.
- Chen H, von Hehn C, Kaczmarek LK, et al. (2007). "Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia". Neurogenetics. 8 (2): 131–5. doi:10.1007/s10048-006-0071-z. PMC 1820748. PMID 17136396.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Gutman GA, Chandy KG, Grissmer S, et al. (2005). "International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels". Pharmacol. Rev. 57 (4): 473–508. doi:10.1124/pr.57.4.10. PMID 16382104. S2CID 219195192.
- Lee H, Wang H, Jen JC, et al. (2004). "A novel mutation in KCNA1 causes episodic ataxia without myokymia". Hum. Mutat. 24 (6): 536. doi:10.1002/humu.9295. PMID 15532032. S2CID 2542180.
- Gu C, Jan YN, Jan LY (2003). "A conserved domain in axonal targeting of Kv1 (Shaker) voltage-gated potassium channels". Science. 301 (5633): 646–9. Bibcode:2003Sci...301..646G. doi:10.1126/science.1086998. PMID 12893943. S2CID 9924760.
Pranala luar
- GeneReviews/NCBI/NIH/UW entry on Episodic Ataxia Type 1, Episodic Ataxia with Myokymia, Hereditary Cerebellar Ataxia with Neuromyotonia
- MeSHKv1.1+Potassium+Channel
- MeSHKCNA1+protein,+human
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