Citations for
1CMS20, SLC5A7
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea.
Bauché S, O'Regan S, Azuma Y, Laffargue F, McMacken G, Sternberg D, Brochier G, Buon C, Bouzidi N, Topf A, Lacène E, Remerand G, Beaufrere AM, Pebrel-Richard C, Thevenon J, El Chehadeh-Djebbar S, Faivre L, Duffourd Y, Ricci F, Mongini T, Fiorillo C, Astrea G, Burloiu CM, Butoianu N, Sandu C, Servais L, Bonne G, Nelson I, Desguerre I, Nougues MC, Bœuf B, Romero N, Laporte J, Boland A, Lechner D, Deleuze JF, Fontaine B, Strochlic L, Lochmuller H, Eymard B, Mayer M, Nicole S.
Am J Hum Genet 99(3):753-61. doi: 10.1016/j.ajhg.2016.06.033. Epub 2016 Aug 25. 2016
2NCAPD3, SLC3A2, SLC5A7
Chromosome-associated protein D3 promotes bacterial clearance in human intestinal epithelial cells by repressing expression of amino acid transporters.
Schuster AT, Homer CR, Kemp JR, Nickerson KP, Deutschman E, Kim Y, West G, Sadler T, Stylianou E, Krokowski D, Hatzoglou M, de la Motte C, Rubin BP, Fiocchi C, McDonald C, Longworth MS.
Gastroenterology 148(7):1405-1416.e3. doi: 10.1053/j.gastro.2015.02.013. Epub 2015 Feb 18. 2015
3SLC5A7
Defective presynaptic choline transport underlies hereditary motor neuropathy.
Barwick KE, Wright J, Al-Turki S, McEntagart MM, Nair A, Chioza B, Al-Memar A, Modarres H, Reilly MM, Dick KJ, Ruggiero AM, Blakely RD, Hurles ME, Crosby AH.
Am J Hum Genet 91(6):1103-7. doi: 10.1016/j.ajhg.2012.09.019. Epub 2012 Nov 8. 2012
4NEDD4L, SLC5A7
The high-affinity choline transporter CHT1 is regulated by the ubiquitin ligase Nedd4-2.
Yamada H, Imajoh-Ohmi S, Haga T.
Biomed Res 33(1):1-8. 2012
5DHMN7A, SLC5A7
Defective presynaptic choline transport underlies hereditary motor neuropathy.
Barwick KE, Wright J, Al-Turki S, McEntagart MM, Nair A, Chioza B, Al-Memar A, Modarres H, Reilly MM, Dick KJ, Ruggiero AM, Blakely RD, Hurles ME, Crosby AH.
Am J Hum Genet 91(6):1103-7. doi: 10.1016/j.ajhg.2012.09.019. Epub 2012 Nov 8. 2012
6SLC5A7
Nuclear choline acetyltransferase activates transcription of a high-affinity choline transporter.
Matsuo A, Bellier JP, Nishimura M, Yasuhara O, Saito N, Kimura H.
J Biol Chem 286(7):5836-45. doi: 10.1074/jbc.M110.147611. Epub 2010 Dec 16. 2011
7SLC5A7
Aberrant trafficking of the high-affinity choline transporter in AP-3-deficient mice.
Misawa H, Fujigaya H, Nishimura T, Moriwaki Y, Okuda T, Kawashima K, Nakata K, Ruggiero AM, Blakely RD, Nakatsu F, Ohno H.
Eur J Neurosci 27(12):3109-17. doi: 10.1111/j.1460-9568.2008.06268.x. Epub 2008 Jun 1. 2008
8SLC5A7
Human choline transporter gene variation is associated with corticolimbic reactivity and autonomic-cholinergic function.
Neumann SA, Brown SM, Ferrell RE, Flory JD, Manuck SB, Hariri AR.
Biol Psychiatry 60(10):1155-62. Epub 2006 Jul 28. Erratum in: Biol Psychiatry. 2007 Feb 1;61(3):424. 2006
9SLC5A7
Heart rate variability is associated with polymorphic variation in the choline transporter gene.
Neumann SA, Lawrence EC, Jennings JR, Ferrell RE, Manuck SB.
Psychosom Med 67(2):168-71. 2005
10SLC5A7
Expression of the high-affinity choline transporter CHT1 in epithelia.
Pfeil U, Haberberger RV, Lips KS, Eberling L, Grau V, Kummer W.
Life Sci 72(18-19):2087-90. 2003
11SLC5A7
Functional characterization of the human high-affinity choline transporter.
Okuda T, Haga T.
FEBS Lett 484(2):92-7. 2000
12SLC5A7
Molecular cloning of a human, hemicholinium-3-sensitive choline transporter.
Apparsundaram S, Ferguson SM, George AL Jr, Blakely RD.
Biochem Biophys Res Commun 276(3):862-7. 2000