| 1 | CHKB, MDC1E
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| Congenital megaconial myopathy due to a novel defect in the choline kinase Beta gene.
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| Ríos PG, Kalra AA, Wilson JD, Tanji K, Akman HO, Gómez EA, Schon EA, Dimauro S.
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| Arch Neurol 69(5):657-61.
2012
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| 2 | CHKB, MDC1E
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| A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis.
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| Mitsuhashi S, Ohkuma A, Talim B, Karahashi M, Koumura T, Aoyama C, Kurihara M, Quinlivan R, Sewry C, Mitsuhashi H, Goto K, Koksal B, Kale G, Ikeda K, Taguchi R, Noguchi S, Hayashi YK, Nonaka I, Sher RB, Sugimoto H, Nakagawa Y, Cox GA, Topaloglu H, Nishino I.
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| Am J Hum Genet 88(6):845-51.
2011
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| 3 | CHKB, MDC1E
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| Muscle choline kinase beta defect causes mitochondrial dysfunction and increased mitophagy.
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| Mitsuhashi S, Hatakeyama H, Karahashi M, Koumura T, Nonaka I, Hayashi YK, Noguchi S, Sher RB, Nakagawa Y, Manfredi G, Goto Y, Cox GA, Nishino I.
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| Hum Mol Genet 20(19):3841-51. Epub 2011 Jul 12.
2011
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| 4 | CHKA, CHKB
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| Crystal structures of human choline kinase isoforms in complex with hemicholinium-3: single amino acid near the active site influences inhibitor sensitivity.
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| Hong BS, Allali-Hassani A, Tempel W, Finerty PJ Jr, Mackenzie F, Dimov S, Vedadi M, Park HW.
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| J Biol Chem 285(21):16330-40. Epub 2010 Mar 18.
2010
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| 5 | CHKA, CHKB
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| Choline kinase and its function.
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| Wu G, Vance DE.
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| Biochem Cell Biol 88(4):559-64. Review.
2010
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| 6 | CHKA, CHKB
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| Differential role of human choline kinase alpha and beta enzymes in lipid metabolism: implications in cancer onset and treatment.
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| Gallego-Ortega D, Ramirez de Molina A, Ramos MA, Valdes-Mora F, Barderas MG, Sarmentero-Estrada J, Lacal JC.
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| PLoS One 4(11):e7819.
2009
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| 7 | CHKA, CHKB
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| Understanding the muscular dystrophy caused by deletion of choline kinase beta in mice.
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| Wu G, Sher RB, Cox GA, Vance DE.
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| Biochim Biophys Acta 1791(5):347-56. Erratum in: Biochim Biophys Acta. 2010 Feb;1801(2):205.
2009
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| 8 | CHKB, CPT1B
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| Variant between CPT1B and CHKB associated with susceptibility to narcolepsy.
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| Miyagawa T, Kawashima M, Nishida N, Ohashi J, Kimura R, Fujimoto A, Shimada M, Morishita S, Shigeta T, Lin L, Hong SC, Faraco J, Shin YK, Jeong JH, Okazaki Y, Tsuji S, Honda M, Honda Y, Mignot E, Tokunaga K.
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| Nat Genet 40(11):1324-8. Epub 2008 Sep 28.
2008
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| 9 | CHKB
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| A rostrocaudal muscular dystrophy caused by a defect in choline kinase beta, the first enzyme in phosphatidylcholine biosynthesis.
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| Sher RB, Aoyama C, Huebsch KA, Ji S, Kerner J, Yang Y, Frankel WN, Hoppel CL, Wood PA, Vance DE, Cox GA.
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| J Biol Chem 281(8):4938-48. Epub 2005 Dec 21.
2006
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| 10 | CHKB
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| Structure and function of choline kinase isoforms in mammalian cells.
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| Aoyama C, Liao H, Ishidate K.
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| Prog Lipid Res 43(3):266-81. Review. Erratum in: Prog Lipid Res. 2004 Jul;43(4):381. 2004
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| 11 | CHKB, CPT1B
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| Novel expression of equivocal messages containing both regions of choline/ethanolamine kinase and muscle type carnitine palmitoyltransferase I.
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| Yamazaki N, Shinohara Y, Kajimoto K, Shindo M, Terada H.
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| J Biol Chem 275(41):31739-46. 2000
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