KCNA1
関連文献

“KCNE4 is an inhibitory subunit to Kv1.1 and Kv1.3 potassium channels.”. Biophys. J. 85 (3):  1525–37. (2003). Bibcode: 2003BpJ....85.1525G. doi:10.1016/S0006-3495(03)74585-8. PMC 1303329. PMID 12944270. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1303329/.
“Nogo-A at CNS paranodes is a ligand of Caspr: possible regulation of K(+) channel localization.”. EMBO J. 22 (21):  5666–78. (2003). doi:10.1093/emboj/cdg570. PMC 275427. PMID 14592966. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC275427/.
“Functional characterization of an episodic ataxia type-1 mutation occurring in the S1 segment of hKv1.1 channels.”. Pflügers Arch. 446 (3):  373–9. (2003). doi:10.1007/s00424-002-0962-2. PMID 12799903.
“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. (2009). doi:10.1172/JCI36948. PMC 2662556. PMID 19307729. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2662556/.
“Novel mutation in KCNA1 causes episodic ataxia with paroxysmal dyspnea.”. Muscle Nerve 37 (3):  399–402. (2008). doi:10.1002/mus.20904. PMID 17912752.
“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. (2005). Bibcode: 2005PNAS..102.5964G. doi:10.1073/pnas.0501999102. PMC 1087951. PMID 15837928. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1087951/.
“Disinactivation of N-type inactivation of voltage-gated K channels by an erbstatin analogue.”. J. Biol. Chem. 279 (28):  29226–30. (2004). doi:10.1074/jbc.M403290200. PMID 15136567.
“Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.”. Genome Res. 16 (1):  55–65. (2006). doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1356129/.
“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. (2004). Bibcode: 2004PNAS..10115535J. doi:10.1073/pnas.0402081101. PMC 524431. PMID 15486093. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC524431/.
“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. (2009). doi:10.4161/chan.3.1.7548. PMID 19202350.
“Expanding the phenotype of potassium channelopathy: severe neuromyotonia and skeletal deformities without prominent Episodic Ataxia.”. Neuromuscul. Disord. 14 (10):  689–93. (2004). doi:10.1016/j.nmd.2004.06.007. PMID 15351427.
“A novel KCNA1 mutation associated with global delay and persistent cerebellar dysfunction.”. Mov. Disord. 24 (5):  778–82. (2009). doi:10.1002/mds.22467. PMID 19205071.
“A novel KCNA1 mutation identified in an Italian family affected by episodic ataxia type 1.”. Neuroscience 157 (3):  577–87. (2008). doi:10.1016/j.neuroscience.2008.09.022. PMID 18926884.
“Clinical spectrum of voltage-gated potassium channel autoimmunity.”. Neurology 70 (20):  1883–90. (2008). doi:10.1212/01.wnl.0000312275.04260.a0. PMID 18474843.
“Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia.”. Neurogenetics 8 (2):  131–5. (2007). doi:10.1007/s10048-006-0071-z. PMC 1820748. PMID 17136396. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1820748/.
“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. (2002). Bibcode: 2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC139241/.
“International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels.”. Pharmacol. Rev. 57 (4):  473–508. (2005). doi:10.1124/pr.57.4.10. PMID 16382104.
“A novel mutation in KCNA1 causes episodic ataxia without myokymia.”. Hum. Mutat. 24 (6):  536. (2004). doi:10.1002/humu.9295. PMID 15532032.
“A conserved domain in axonal targeting of Kv1 (Shaker) voltage-gated potassium channels.”. Science 301 (5633):  646–9. (2003). Bibcode: 2003Sci...301..646G. doi:10.1126/science.1086998. PMID 12893943.