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Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea.
Am J Hum Genet. 2016 Sep 1;99(3):753-761. doi: 10.1016/j.ajhg.2016.06.033. Epub 2016 Aug 25.
Am J Hum Genet. 2016.
PMID: 27569547
Free PMC article.
Transmembrane topology and oligomeric structure of the high-affinity choline transporter.
Okuda T, Osawa C, Yamada H, Hayashi K, Nishikawa S, Ushio T, Kubo Y, Satou M, Ogawa H, Haga T.
Okuda T, et al.
J Biol Chem. 2012 Dec 14;287(51):42826-34. doi: 10.1074/jbc.M112.405027. Epub 2012 Nov 6.
J Biol Chem. 2012.
PMID: 23132865
Free PMC article.
Item in Clipboard
Na+, Cl-, and pH dependence of the human choline transporter (hCHT) in Xenopus oocytes: the proton inactivation hypothesis of hCHT in synaptic vesicles.
Iwamoto H, Blakely RD, De Felice LJ.
Iwamoto H, et al.
J Neurosci. 2006 Sep 27;26(39):9851-9. doi: 10.1523/JNEUROSCI.1862-06.2006.
J Neurosci. 2006.
PMID: 17005849
Free PMC article.
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Constitutive high-affinity choline transporter endocytosis is determined by a carboxyl-terminal tail dileucine motif.
Ribeiro FM, Black SA, Cregan SP, Prado VF, Prado MA, Rylett RJ, Ferguson SS.
Ribeiro FM, et al.
J Neurochem. 2005 Jul;94(1):86-96. doi: 10.1111/j.1471-4159.2005.03171.x.
J Neurochem. 2005.
PMID: 15953352
Free article.
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Single nucleotide polymorphism of the human high affinity choline transporter alters transport rate.
Okuda T, Okamura M, Kaitsuka C, Haga T, Gurwitz D.
Okuda T, et al.
J Biol Chem. 2002 Nov 22;277(47):45315-22. doi: 10.1074/jbc.M207742200. Epub 2002 Sep 16.
J Biol Chem. 2002.
PMID: 12237312
Free article.
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