| 1 | MAGEL2, PWLAD
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| Truncated variants of MAGEL2 are involved in the etiologies of the Schaaf-Yang and Prader-Willi syndromes.
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| Heimdörfer D, Vorleuter A, Eschlböck A, Spathopoulou A, Suarez-Cubero M, Farhan H, Reiterer V, Spanjaard M, Schaaf CP, Huber LA, Kremser L, Sarg B, Edenhofer F, Geley S, de Araujo MEG, Huettenhofer A.
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| Am J Hum Genet. Jul 11;111(7):1383-1404. doi: 10.1016/j.ajhg.2024.05.023. Epub 2024 Jun 21. 2024
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| 2 | MAGEL2, PWLAD
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| MAGEL2 (patho-)physiology and Schaaf-Yang syndrome.
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| Schubert T, Schaaf CP.
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| Dev Med Child Neurol. Jul 1. doi: 10.1111/dmcn.16018. Epub ahead of print. 2024
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| 3 | MAGEL2
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| Cell-specific secretory granule sorting mechanisms: the role of MAGEL2 and retromer in hypothalamic regulated secretion.
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| Štepihar D, Florke Gee RR, Hoyos Sanchez MC, Fon Tacer K.
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| Front Cell Dev Biol. Sep 18;11:1243038. doi: 10.3389/fcell.2023.1243038. 2023
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| 4 | AMCN5, MAGEL2
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| Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.
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| Laquerriere A, Jaber D, Abiusi E, Maluenda J, Mejlachowicz D, Vivanti A, Dieterich K, Stoeva R, Quevarec L, Nolent F, Biancalana V, Latour P, Sternberg D, Capri Y, Verloes A, Bessieres B, Loeuillet L, Attie-Bitach T, Martinovic J, Blesson S, Petit F, Beneteau C, Whalen S, Marguet F, Bouligand J, Héron D, Viot G, Amiel J, Amram D, Bellesme C, Bucourt M, Faivre L, Jouk PS, Khung S, Sigaudy S, Delezoide AL, Goldenberg A, Jacquemont ML, Lambert L, Layet V, Lyonnet S, Munnich A, Van Maldergem L, Piard J, Guimiot F, Landrieu P, Letard P, Pelluard F, Perrin L, Saint-Frison MH, Topaloglu H, Trestard L, Vincent-Delorme C, Amthor H, Barnerias C, Benachi A, Bieth E, Boucher E, Cormier-Daire V, Delahaye-Duriez A, Desguerre I, Eymard B, Francannet C, Grotto S, Lacombe D, Laffargue F, Legendre M, Martin-Coignard D, Mégarbané A, Mercier S, Nizon M, Rigonnot L, Prieur F, Quélin C, Ranjatoelina-Randrianaivo H, Resta N, Toutain A, Verhelst H, Vincent M, Colin E, Fallet-Bianco C, Granier M, Grigorescu R, Saada J, Gonzales M, Guiochon-Mantel A, Bessereau JL, Tawk M, Gut I, Gitiaux C, Melki J.
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| J Med Genet. Jun;59(6):559-567. doi: 10.1136/jmedgenet-2020-107595. Epub 2021 Apr 5. 2022
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| 5 | MAGEL2, PWLAD
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| MAGEL2-related disorders: A study and case series.
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| Patak J, Gilfert J, Byler M, Neerukonda V, Thiffault I, Cross L, Amudhavalli S, Pacio-Miguez M, Palomares-Bralo M, Garcia-Minaur S, Santos-Simarro F, Powis Z, Alcaraz W, Tang S, Jurgens J, Barry B, England E, Engle E, Hess J, Lebel RR.
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| Clin Genet. Dec;96(6):493-505. doi: 10.1111/cge.13620. Epub 2019 Aug 22. 2019
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| 6 | MAGEL2, PWLAD
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| Magel2 Modulates Bone Remodeling and Mass in Prader-Willi Syndrome by Affecting Oleoyl Serine Levels and Activity.
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| Baraghithy S, Smoum R, Drori A, Hadar R, Gammal A, Hirsch S, Attar-Namdar M, Nemirovski A, Gabet Y, Langer Y, Pollak Y, Schaaf CP, Rech ME, Gross-Tsur V, Bab I, Mechoulam R, Tam J.
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| J Bone Miner Res. Jan;34(1):93-105. doi: 10.1002/jbmr.3591. Epub 2018 Oct 22. 2019
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| 7 | MAGEL2, PWLAD
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| Cellular and disease functions of the Prader-Willi Syndrome gene MAGEL2.
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| Tacer KF, Potts PR.
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| Biochem J. Jun 16;474(13):2177-2190. doi: 10.1042/BCJ20160616. 2017
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| 8 | MAGEL2
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| Loss of Magel2 impairs the development of hypothalamic Anorexigenic circuits
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| Maillard J, Park S, Croizier S, Vanacker C, Cook JH, Prevot V, Tauber M, Bouret SG.
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| Hum Mol Genet. Aug1;25(15):3208-3215. doi: 10.1093/hmg/ddw169. Epub 2016 Jun 10 2016
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| 9 | AMCN5, MAGEL2
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| Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis.
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| Mejlachowicz D, Nolent F, Maluenda J, Ranjatoelina-Randrianaivo H, Giuliano F, Gut I, Sternberg D, Laquerrière A, Melki J.
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| Am J Hum Genet 97(4):616-20. doi: 10.1016/j.ajhg.2015.08.010. Epub 2015 Sep 10.
2015
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| 10 | CBX4, MAGED1, MAGEF1, MAGEL2, NDN, NSMCE2, PIAS1, STAT1
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| Necdin promotes ubiquitin-dependent degradation of PIAS1 SUMO E3 ligase.
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| Gur I, Fujiwara K, Hasegawa K, Yoshikawa K.
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| PLoS One 9(6):e99503. doi: 10.1371/journal.pone.0099503. eCollection 2014. 2014
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| 11 | MAGEL2, PWLAD
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| Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism.
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| 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.
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| Nat Genet 45(11):1405-8. doi: 10.1038/ng.2776. Epub 2013 Sep 29.
2013
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| 12 | MAGEL2, PWS
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| Magel2 is required for leptin-mediated depolarization of POMC neurons in the hypothalamic arcuate nucleus in mice.
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| Mercer RE, Michaelson SD, Chee MJ, Atallah TA, Wevrick R, Colmers WF.
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| PLoS Genet 9(1):e1003207. doi: 10.1371/journal.pgen.1003207. Epub 2013 Jan 17.
2013
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| 13 | MAGEL2, TRIM27, VPS26A, VPS35
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| Regulation of WASH-dependent actin polymerization and protein trafficking by ubiquitination.
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| Hao YH, Doyle JM, Ramanathan S, Gomez TS, Jia D, Xu M, Chen ZJ, Billadeau DD, Rosen MK, Potts PR.
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| Cell 152(5):1051-64. doi: 10.1016/j.cell.2013.01.051.
2013
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| 14 | MAGED1, MAGEL2, NDN, OXT
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| Loss of Maged1 results in obesity, deficits of social interactions, impaired sexual behavior and severe alteration of mature oxytocin production in the hypothalamus.
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| Dombret C, Nguyen T, Schakman O, Michaud JL, Hardin-Pouzet H, Bertrand MJ, De Backer O.
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| Hum Mol Genet 21(21):4703-17. doi: 10.1093/hmg/dds310. Epub 2012 Aug 2.
2012
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| 15 | MAGEL2
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| Magel2, a Prader-Willi syndrome candidate gene, modulates the activities of circadian rhythm proteins in cultured cells.
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| Devos J, Weselake SV, Wevrick R.
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| J Circadian Rhythms 9(1):12. doi: 10.1186/1740-3391-9-12.
2011
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| 16 | MAGEL2, PWS
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| Impaired hypothalamic regulation of endocrine function and delayed counterregulatory response to hypoglycemia in Magel2-null mice.
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| Tennese AA, Wevrick R.
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| Endocrinology 152(3):967-78. doi: 10.1210/en.2010-0709. Epub 2011 Jan 19.
2011
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| 17 | MAGEL2
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| A single postnatal injection of oxytocin rescues the lethal feeding behaviour in mouse newborns deficient for the imprinted Magel2 gene.
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| Schaller F, Watrin F, Sturny R, Massacrier A, Szepetowski P, Muscatelli F.
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| Hum Mol Genet 19(24):4895-905. doi: 10.1093/hmg/ddq424. Epub 2010 Sep 28.
2010
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| 18 | MAGEL2, MKRN3, NDN, PWS
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| A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndrome.
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| Kanber D, Giltay J, Wieczorek D, Zogel C, Hochstenbach R, Caliebe A, Kuechler A, Horsthemke B, Buiting K.
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| Eur J Hum Genet 17(5):582-90. Epub 2008 Dec 10.
2009
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| 19 | MAGEL2
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| Loss of magel2, a candidate gene for features of Prader-Willi syndrome, impairs reproductive function in mice.
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| Mercer RE, Wevrick R.
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| PLoS One 4(1):e4291. doi: 10.1371/journal.pone.0004291. Epub 2009 Jan 27.
2009
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| 20 | MAGEL2, PWS
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| Inactivation of the mouse Magel2 gene results in growth abnormalities similar to Prader-Willi syndrome.
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| Bischof JM, Stewart CL, Wevrick R.
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| Hum Mol Genet 16(22):2713-9. Epub 2007 Aug 29. 2007
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| 21 | MAGEL2
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| The imprinted gene Magel2 regulates normal circadian output.
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| Kozlov SV, Bogenpohl JW, Howell MP, Wevrick R, Panda S, Hogenesch JB, Muglia LJ, Van Gelder RN, Herzog ED, Stewart CL.
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| Nat Genet 39(10):1266-72. Epub 2007 Sep 23. 2007
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| 22 | BBS4, MAGEL2, NDN, PWS
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| Essential role for the Prader-Willi syndrome protein necdin in axonal outgrowth.
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| Lee S, Walker CL, Karten B, Kuny SL, Tennese AA, O'Neill MA, Wevrick R.
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| Hum Mol Genet 14(5):627-37. Epub 2005 Jan 13. 2005
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| 23 | MAGEL2, PWS
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| Expression and imprinting of MAGEL2 suggest a role in Prader-willi syndrome and the homologous murine imprinting phenotype.
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| Lee S, Kozlov S, Hernandez L, Chamberlain SJ, Brannan CI, Stewart CL, Wevrick R.
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| Hum Mol Genet 9(12):1813-9. 2000
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| 24 | MAGEL2, PWS
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| The human MAGEL2 gene and its mouse homologue are paternally expressed and mapped to the prader-willi region.
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| Boccaccio I, Glatt-Deeley H, Watrin F, Roeckel N, Lalande M, Muscatelli F.
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| Hum Mol Genet 8(13):2497-505 1999
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