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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

Artikel bertopik kimia ini adalah sebuah rintisan. Anda dapat membantu Wikipedia dengan mengembangkannya.

[pmid1349297-1] 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.

[pmid8821794-2] 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.

[pmid16382104-3] 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.

[pmid9616766-4] 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.

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Kv1.1

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