Citations for
1AMCN5, MAGEL2
Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis.
Mejlachowicz D, Nolent F, Maluenda J, Ranjatoelina-Randrianaivo H, Giuliano F, Gut I, Sternberg D, Laquerrière A, Melki J.
Am J Hum Genet 97(4):616-20. doi: 10.1016/j.ajhg.2015.08.010. Epub 2015 Sep 10. 2015
2CBX4, MAGED1, MAGEF1, MAGEL2, NDN, NSMCE2, PIAS1, STAT1
Necdin promotes ubiquitin-dependent degradation of PIAS1 SUMO E3 ligase.
Gur I, Fujiwara K, Hasegawa K, Yoshikawa K.
PLoS One 9(6):e99503. doi: 10.1371/journal.pone.0099503. eCollection 2014. 2014
3MAGEL2, PWLAD
Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism.
Schaaf CP, Gonzalez-Garay ML, Xia F, Potocki L, Gripp KW, Zhang B, Peters BA, McElwain MA, Drmanac R, Beaudet AL, Caskey CT, Yang Y.
Nat Genet 45(11):1405-8. doi: 10.1038/ng.2776. Epub 2013 Sep 29. 2013
4MAGEL2, PWS
Magel2 is required for leptin-mediated depolarization of POMC neurons in the hypothalamic arcuate nucleus in mice.
Mercer RE, Michaelson SD, Chee MJ, Atallah TA, Wevrick R, Colmers WF.
PLoS Genet 9(1):e1003207. doi: 10.1371/journal.pgen.1003207. Epub 2013 Jan 17. 2013
5MAGEL2, TRIM27, VPS26A, VPS35
Regulation of WASH-dependent actin polymerization and protein trafficking by ubiquitination.
Hao YH, Doyle JM, Ramanathan S, Gomez TS, Jia D, Xu M, Chen ZJ, Billadeau DD, Rosen MK, Potts PR.
Cell 152(5):1051-64. doi: 10.1016/j.cell.2013.01.051. 2013
6MAGED1, MAGEL2, NDN, OXT
Loss of Maged1 results in obesity, deficits of social interactions, impaired sexual behavior and severe alteration of mature oxytocin production in the hypothalamus.
Dombret C, Nguyen T, Schakman O, Michaud JL, Hardin-Pouzet H, Bertrand MJ, De Backer O.
Hum Mol Genet 21(21):4703-17. doi: 10.1093/hmg/dds310. Epub 2012 Aug 2. 2012
7MAGEL2
Magel2, a Prader-Willi syndrome candidate gene, modulates the activities of circadian rhythm proteins in cultured cells.
Devos J, Weselake SV, Wevrick R.
J Circadian Rhythms 9(1):12. doi: 10.1186/1740-3391-9-12. 2011
8MAGEL2, PWS
Impaired hypothalamic regulation of endocrine function and delayed counterregulatory response to hypoglycemia in Magel2-null mice.
Tennese AA, Wevrick R.
Endocrinology 152(3):967-78. doi: 10.1210/en.2010-0709. Epub 2011 Jan 19. 2011
9MAGEL2
A single postnatal injection of oxytocin rescues the lethal feeding behaviour in mouse newborns deficient for the imprinted Magel2 gene.
Schaller F, Watrin F, Sturny R, Massacrier A, Szepetowski P, Muscatelli F.
Hum Mol Genet 19(24):4895-905. doi: 10.1093/hmg/ddq424. Epub 2010 Sep 28. 2010
10MAGEL2, MKRN3, NDN, PWS
A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndrome.
Kanber D, Giltay J, Wieczorek D, Zogel C, Hochstenbach R, Caliebe A, Kuechler A, Horsthemke B, Buiting K.
Eur J Hum Genet 17(5):582-90. Epub 2008 Dec 10. 2009
11MAGEL2
Loss of magel2, a candidate gene for features of Prader-Willi syndrome, impairs reproductive function in mice.
Mercer RE, Wevrick R.
PLoS One 4(1):e4291. doi: 10.1371/journal.pone.0004291. Epub 2009 Jan 27. 2009
12MAGEL2, PWS
Inactivation of the mouse Magel2 gene results in growth abnormalities similar to Prader-Willi syndrome.
Bischof JM, Stewart CL, Wevrick R.
Hum Mol Genet 16(22):2713-9. Epub 2007 Aug 29. 2007
13MAGEL2
The imprinted gene Magel2 regulates normal circadian output.
Kozlov SV, Bogenpohl JW, Howell MP, Wevrick R, Panda S, Hogenesch JB, Muglia LJ, Van Gelder RN, Herzog ED, Stewart CL.
Nat Genet 39(10):1266-72. Epub 2007 Sep 23. 2007
14BBS4, MAGEL2, NDN, PWS
Essential role for the Prader-Willi syndrome protein necdin in axonal outgrowth.
Lee S, Walker CL, Karten B, Kuny SL, Tennese AA, O'Neill MA, Wevrick R.
Hum Mol Genet 14(5):627-37. Epub 2005 Jan 13. 2005
15MAGEL2, PWS
Expression and imprinting of MAGEL2 suggest a role in Prader-willi syndrome and the homologous murine imprinting phenotype.
Lee S, Kozlov S, Hernandez L, Chamberlain SJ, Brannan CI, Stewart CL, Wevrick R.
Hum Mol Genet 9(12):1813-9. 2000
16MAGEL2, PWS
The human MAGEL2 gene and its mouse homologue are paternally expressed and mapped to the prader-willi region.
Boccaccio I, Glatt-Deeley H, Watrin F, Roeckel N, Lalande M, Muscatelli F.
Hum Mol Genet 8(13):2497-505 1999