| 1 | ATP10A, REEP1, UBE3A
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| Hereditary Spastic Paraplegia and Intellectual Disability: Clinicogenetic Lessons From a Family Suggesting a Dual Genetics Diagnosis
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| Aguilera-Albesa S, de la Hoz AB, Ibarluzea N, Ordóñez-Castillo AR, Busto-Crespo O, Villate O, Ibiricu-Yanguas MA, Yoldi-Petri ME, García de Gurtubay I, Perez de Nanclares G, Pereda A, Tejada MI.
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| Front Neurol. Feb 14;11:41. doi: 10.3389/fneur.2020.00041. 2020
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| 2 | RNF2, RYBP, UBE3A
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| RYBP modulates stability and function of Ring1B through targeting UBE3A.
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| Li M, Zhang S, Zhao W, Hou C, Ma X, Li X, Huang B, Chen H, Chen D.
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| FASEB J 33(1):683-695. doi: 10.1096/fj.201800397R. Epub 2018 Jul 24. 2019
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| 3 | ARNTL, UBE3A
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| The E3 ubiquitin ligase UBE3A is an integral component of the molecular circadian clock through regulating the BMAL1 transcription factor.
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| Gossan NC, Zhang F, Guo B, Jin D, Yoshitane H, Yao A, Glossop N, Zhang YQ, Fukada Y, Meng QJ.
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| Nucleic Acids Res 42(9):5765-75. doi: 10.1093/nar/gku225. Epub 2014 Apr 11.
2014
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| 4 | CEBPA, UBE3A
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| E3 ubiquitin ligase E6AP negatively regulates adipogenesis by downregulating proadipogenic factor C/EBPalpha.
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| Pal P, Lochab S, Kanaujiya JK, Kapoor I, Sanyal S, Behre G, Trivedi AK.
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| PLoS One 8(6):e65330. doi: 10.1371/journal.pone.0065330. Print 2013.
2013
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| 5 | MECP2, UBE3A
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| Ube3a/E6AP is involved in a subset of MeCP2 functions
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| Kim S, Chahrour M, Ben-Shachar S, Lim J.
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| Biochem Biophys Res Commun Jul 19;437(1):67-73. doi: 10.1016/j.bbrc.2013.06.036. Epub 2013 Jun 19. 2013
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| 6 | HERC2, HIF1AN, MAPK6, NEURL4, UBE3A
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| Identification and proteomic analysis of distinct UBE3A/E6AP protein complexes.
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| Martínez-Noël G, Galligan JT, Sowa ME, Arndt V, Overton TM, Harper JW, Howley PM.
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| Mol Cell Biol 32(15):3095-106. Epub 2012 May 29. 2012
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| 7 | UBE3A
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| Topoisomerase inhibitors unsilence the dormant allele of Ube3a in neurons.
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| Huang HS, Allen JA, Mabb AM, King IF, Miriyala J, Taylor-Blake B, Sciaky N, Dutton JW Jr, Lee HM, Chen X, Jin J, Bridges AS, Zylka MJ, Roth BL, Philpot BD.
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| Nature. 481(7380):185-9. 2011
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| 8 | HERC2, UBE3A
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| Physical and functional interaction of the HECT ubiquitin-protein ligases E6AP and HERC2.
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| Kühnle S, Kogel U, Glockzin S, Marquardt A, Ciechanover A, Matentzoglu K, Scheffner M.
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| J Biol Chem 286(22):19410-6. Epub 2011 Apr 14.
2011
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| 9 | MC1R, UBE3A
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| UBE3A regulates MC1R expression: a link to hypopigmentation in Angelman syndrome.
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| Low D, Chen KS.
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| Pigment Cell Melanoma Res 24(5):944-52. doi: 10.1111/j.1755-148X.2011.00884.x. Epub 2011 Jul 27.
2011
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| 10 | AS, RNF2, UBE3A
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| Regulation of the polycomb protein Ring1B by self-ubiquitination or by E6-AP may have implications to the pathogenesis of Angelman syndrome.
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| Zaaroor-Regev D, de Bie P, Scheffner M, Noy T, Shemer R, Heled M, Stein I, Pikarsky E, Ciechanover A.
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| Proc Natl Acad Sci U S A 107(15):6788-93. Epub 2010 Mar 29. 2010
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| 11 | UBE3A
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| Genomic imprinting of experience-dependent cortical plasticity by the ubiquitin ligase gene Ube3a.
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| Sato M, Stryker MP.
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| Proc Natl Acad Sci U S A 107(12):5611-6. Epub 2010 Mar 8.
2010
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| 12 | ARC, AS, UBE3A
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| The Angelman Syndrome protein Ube3A regulates synapse development by ubiquitinating arc.
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| Greer PL, Hanayama R, Bloodgood BL, Mardinly AR, Lipton DM, Flavell SW, Kim TK, Griffith EC, Waldon Z, Maehr R, Ploegh HL, Chowdhury S, Worley PF, Steen J, Greenberg ME.
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| Cell 140(5):704-16.PMID: 20211139 2010
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| 13 | AS, UBE3A
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| A novel UBE3A truncating mutation in large Tunisian Angelman syndrome pedigree.
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| Abaied L, Trabelsi M, Chaabouni M, Kharrat M, Kraoua L, M'rad R, Tebib N, Maazoul F, Chaabouni H.
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| Am J Med Genet A 152A(1):141-6.PMID: 20034088 2010
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| 14 | AS, PWS, UBE3A
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| Induced pluripotent stem cell models of the genomic imprinting disorders Angelman and Prader-Willi syndromes.
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| Chamberlain SJ, Chen PF, Ng KY, Bourgois-Rocha F, Lemtiri-Chlieh F, Levine ES, Lalande M.
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| Proc Natl Acad Sci U S A 107(41):17668-73. Epub 2010 Sep 27. 2010
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| 15 | PGR, UBE3A
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| Isoform-specific degradation of PR-B by E6-AP is critical for normal mammary gland development.
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| Ramamoorthy S, Dhananjayan SC, Demayo FJ, Nawaz Z.
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| Mol Endocrinol 24(11):2099-113. Epub 2010 Sep 9.
2010
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| 16 | DUP15QP, GABRB3, NDN, SNRPN, UBE3A
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| Chromosome 15q11-13 duplication syndrome brain reveals epigenetic alterations in gene expression not predicted from copy number.
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| Hogart A, Leung KN, Wang NJ, Wu DJ, Driscoll J, Vallero RO, Schanen NC, LaSalle JM.
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| J Med Genet 46(2):86-93. Epub 2008 Oct 7.
2009
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| 17 | AS, UBE3A
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| Novel UBE3A mutations causing Angelman syndrome: Different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions.
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| Camprubí C, Guitart M, Gabau E, Coll MD, Villatoro S, Oltra S, Roselló M, Ferrer I, Monfort S, Orellana C, Martínez F.
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| Am J Med Genet A 149A(3):343-8.
2009
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| 18 | AS, UBE3A
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| The Drosophila homologue of the Angelman syndrome ubiquitin ligase regulates the formation of terminal dendritic branches.
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| Lu Y, Wang F, Li Y, Ferris J, Lee JA, Gao FB.
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| Hum Mol Genet 18(3):454-62. Epub 2008 Nov 7.
2009
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| 19 | PML, UBE3A
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| E6AP promotes the degradation of the PML tumor suppressor.
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| Louria-Hayon I, Alsheich-Bartok O, Levav-Cohen Y, Silberman I, Berger M, Grossman T, Matentzoglu K, Jiang YH, Muller S, Scheffner M, Haupt S, Haupt Y.
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| Cell Death Differ 16(8):1156-66. Epub 2009 Mar 27.
2009
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| 20 | UBE3A
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| Ube3a is required for experience-dependent maturation of the neocortex
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| Yashiro K, Riday TT, Condon KH, Roberts AC, Bernardo DR, Prakash R, Weinberg RJ, Ehlers MD, Philpot BD.
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| Nat Neurosci. 12(6):777-83. 2009
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| 21 | AS, UBE3A
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| The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology.
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| Dindot SV, Antalffy BA, Bhattacharjee MB, Beaudet AL.
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| Hum Mol Genet 17(1):111-8. Epub 2007 Oct 16. 2008
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| 22 | UBE3A
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| E3 ubiquitin ligase E6AP-mediated TSC2 turnover in the presence and absence of HPV16 E6.
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| Zheng L, Ding H, Lu Z, Li Y, Pan Y, Ning T, Ke Y.
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| Genes Cells. 13(3):285-94. 2008
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| 23 | UBE3A
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| A Drosophila model for Angelman syndrome.
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| Wu Y, Bolduc FV, Bell K, Tully T, Fang Y, Sehgal A, Fischer JA.
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| Proc Natl Acad Sci U S A. 105(34):12399-404. 2008
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| 24 | AS, UBE3A
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| Molecular epigenetics of Angelman syndrome.
|
| Lalande M, Calciano MA.
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| Cell Mol Life Sci 64(7-8):947-60. Review.
2007
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| 25 | AS, AUTS4, GABRB3, MECP2, PWS, RTT, UBE3A
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| 15q11-13 GABAA receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders.
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| Hogart A, Nagarajan RP, Patzel KA, Yasui DH, Lasalle JM.
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| Hum Mol Genet 16(6):691-703. Epub 2007 Mar 5.
2007
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| 26 | UBE3A
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| Rescue of neurological deficits in a mouse model for Angelman syndrome by reduction of alphaCaMKII inhibitory phosphorylation.
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| van Woerden GM, Harris KD, Hojjati MR, Gustin RM, Qiu S, de Avila Freire R, Jiang YH, Elgersma Y, Weeber EJ.
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| Nat Neurosci. 10(3):280-2. 2007
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| 27 | UBE3A, SUMO1, APP
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| Genomic and functional profiling of duplicated chromosome 15 cell lines reveal regulatory alterations in UBE3A-associated ubiquitin-proteasome pathway processes.
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| Baron CA, Tepper CG, Liu SY, Davis RR, Wang NJ, Schanen NC, Gregg JP.
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| Hum Mol Genet 15(6):853-69. Epub 2006 Jan 30. 2006
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| 28 | UBE3A, ECT2
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| Expression of the Rho-GEF Pbl/ECT2 is regulated by the UBE3A E3 ubiquitin ligase.
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| Reiter LT, Seagroves TN, Bowers M, Bier E.
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| Hum Mol Genet 15(18):2825-35. Epub 2006 Aug 11. 2006
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| 29 | SCRIB, UBE3A
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| Human scribble, a novel tumor suppressor identified as a target of high-risk HPV E6 for ubiquitin-mediated degradation, interacts with adenomatous polyposis coli.
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| Takizawa S, Nagasaka K, Nakagawa S, Yano T, Nakagawa K, Yasugi T, Takeuchi T, Kanda T, Huibregtse JM, Akiyama T, Taketani Y.
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| Genes Cells 11(4):453-64. 2006
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| 30 | UBE3A, NCO3A
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| E6AP mediates regulated proteasomal degradation of the nuclear receptor coactivator amplified in breast cancer 1 in immortalized cells.
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| Mani A, Oh AS, Bowden ET, Lahusen T, Lorick KL, Weissman AM, Schlegel R, Wellstein A, Riegel AT.
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| Cancer Res 66(17):8680-6. 2006
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| 31 | UBE3A
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| Surface plasmon resonance imaging protein arrays for analysis of triple protein interactions of HPV, E6, E6AP, and p53.
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| Ro HS, Koh BH, Jung SO, Park HK, Shin YB, Kim MG, Chung BH.
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| Proteomics. 6(7):2108-11. 2006
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| 32 | UBE3A, MECP2, GABRB3, RTT, AUTS4
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| Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3.
|
| Samaco RC, Hogart A, LaSalle JM.
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| Hum Mol Genet 14(4):483-92. Epub 2004 Dec 22. 2005
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| 33 | UBE3A, MECP2, RTT
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| MeCP2 deficiency in Rett syndrome causes epigenetic aberrations at the PWS/AS imprinting center that affects UBE3A expression.
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| Makedonski K, Abuhatzira L, Kaufman Y, Razin A, Shemer R.
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| Hum Mol Genet 14(8):1049-58. Epub 2005 Mar 9. 2005
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| 34 | AS,MECP2,UBE3A
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| Investigation of UBE3A and MECP2 in Angelman syndrome (AS) and patients with features of AS.
|
| Hitchins MP, Rickard S, Dhalla F, de Vries BB, Winter R, Pembrey ME, Malcolm S.
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| Am J Med Genet 125A(2):167-72. 2004
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| 35 | AS, SNRPN, SNURF, UBE3A
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| SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome.
|
| Runte M, Kroisel PM, Gillessen-Kaesbach G, Varon R, Horn D, Cohen MY, Wagstaff J, Horsthemke B, Buiting K.
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| Hum Genet 114(6):553-61. Epub 2004 Mar 10. 2004
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| 36 | UBE3A
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| A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A.
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| Jiang YH, Sahoo T, Michaelis RC, Bercovich D, Bressler J, Kashork CD, Liu Q, Shaffer LG, Schroer RJ, Stockton DW, Spielman RS, Stevenson RE, Beaudet AL.
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| Am J Med Genet 131A(1):1-10. 2004
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| 37 | UBE3A, AS
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| Biochemical analysis of Angelman syndrome-associated mutations in the E3 ubiquitin ligase E6-associated protein.
|
| Cooper EM, Hudson AW, Amos J, Wagstaff J, Howley PM.
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| J Biol Chem 279(39):41208-17. Epub 2004 Jul 19. 2004
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| 38 | AS,UBE3A
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| Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions.
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| Gimelli G, Pujana MA, Patricelli MG, Russo S, Giardino D, Larizza L, Cheung J, Armengol L, Schinzel A, Estivill X, Zuffardi O.
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| Hum Mol Genet 12(8):849-58. 2003
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| 39 | UBE3A
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| Derangements of hippocampal calcium/calmodulin-dependent protein kinase II in a mouse model for Angelman mental retardation syndrome.
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| Weeber EJ, Jiang YH, Elgersma Y, Varga AW, Carrasquillo Y, Brown SE, Christian JM, Mirnikjoo B, Silva A, Beaudet AL, Sweatt JD.
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| J Neurosci. 23(7):2634-44. 2003
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| 40 | UBE3A, BPY2, BPY2B, BPY2C
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| VCY2 protein interacts with the HECT domain of ubiquitin-protein ligase E3A.
|
| Wong EY, Tse JY, Yao KM, Tam PC, Yeung WS.
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| Biochem Biophys Res Commun 296(5):1104-11. 2002
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| 41 | DUP15QP, NSMCE3, UBE3A
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| Allele-specific expression analysis by RNA-FISH demonstrates preferential maternal expression of UBE3A and imprint maintenance within 15q11- q13 duplications.
|
| Herzing LB, Cook EH Jr, Ledbetter DH.
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| Hum Mol Genet 11(15):1707-18. 2002
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| 42 | AS, ATP10A, PWS, SNORD107, SNORD108, SNORD109A, SNORD109B, SNORD115-1, SNORD115-10, SNORD115-11, SNORD115-12, SNORD115-13, SNORD115-14, SNORD115-15, SNORD115-16, SNORD115-17, SNORD115-18, SNORD115-19, SNORD115-2, SNORD115-20, SNORD115-21, SNORD115-22, SNORD115-23, SNORD115-24, SNORD115-25, SNORD115-26, SNORD115-29, SNORD115-3, SNORD115-30, SNORD115-31, SNORD115-32, SNORD115-33, SNORD115-34, SNORD115-35, SNORD115-36, SNORD115-37, SNORD115-38, SNORD115-39, SNORD115-4, SNORD115-40, SNORD115-41, SNORD115-42, SNORD115-43, SNORD115-44, SNORD115-48, SNORD115-5, SNORD115-6, SNORD115-7, SNORD115-8, SNORD115-9, SNORD115@, SNORD116-1, SNORD116-10, SNORD116-11, SNORD116-12, SNORD116-13, SNORD116-14, SNORD116-15, SNORD116-16, SNORD116-17, SNORD116-18, SNORD116-19, SNORD116-2, SNORD116-20, SNORD116-21, SNORD116-22, SNORD116-23, SNORD116-24, SNORD116-25, SNORD116-26, SNORD116-27, SNORD116-28, SNORD116-29, SNORD116-3, SNORD116-4, SNORD116-5, SNORD116-6, SNORD116-7, SNORD116-8, SNORD116-9, SNORD116@, SNORD64, SNRPN, SNURF, UBE3A
|
| The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A.
|
| Runte M, Huttenhofer A, Gross S, Kiefmann M, Horsthemke B, Buiting K.
|
| Hum Mol Genet 10(23):2687-700. 2001
|
| 43 | BCYRN1, DISC2, GNAS, H19, IPW, KCNQ1OT1, NTT, SNORD22, SCA8, TSIX, UBE3A, XIST, MKRN3AS
|
| The non-coding RNAs as riboregulators.
|
| Erdmann VA, Barciszewska MZ, Szymanski M, Hochberg A, de Groot N, Barciszewski J.
|
| Nucleic Acids Res 29(1):189-93. 2001
|
| 44 | SNORD116@, UBE3A
|
| Genome organization, function, and imprinting in Prader-Willi and Angelman syndromes.
|
| Nicholls RD, Knepper JL.
|
| Annu Rev Genomics Hum Genet 2:153-75. Review. 2001
|
| 45 | AS,UBE3A
|
| The spectrum of mutations in UBE3A causing Angelman syndrome.
|
| Fang P, Lev-Lehman E, Tsai TF, Matsuura T, Benton CS, Sutcliffe JS, Christian SL, Kubota T, Halley DJ, Meijers-Heijboer H, Langlois S, Graham JM Jr, Beuten J, Willems PJ, Ledbetter DH, Beaudet AL.
|
| Hum Mol Genet 8 : 129-135. 1999
|
| 46 | AS,UBE3A
|
| The Angelman syndrome-associated protein, E6-AP, is a coactivator for the nuclear hormone receptor superfamily.
|
| Nawaz Z, et al.
|
| Mol Cell Biol 19(2):1182-9. 1999
|
| 47 | AS,UBE3A
|
| Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counselling.
|
| Moncla A, et al.
|
| J Med Genet 36(7):554-60. 1999
|
| 48 | AS,UBE3A
|
| Angelman syndrome: AS phenotype correlated with specific EEG pattern may result in a high detection rate of mutations in the UBE3A gene.
|
| van den Ouweland AM, et al.
|
| J Med Genet 36(9):723-4. No abstract available 1999
|
| 49 | AS,UBE3A
|
| Screening for UBE3A gene mutations in a group of Angelman syndrome patients selected according to non-stringent clinical criteria.
|
| Baumer A, Balmer D, Schinzel A.
|
| Hum Genet 105(6):598-602 1999
|
| 50 | UBE3A
|
| Structure of an E6AP-UbcH7 complex: insights into ubiquitination by the E2-E3 enzyme cascade.
|
| Huang L, Kinnucan E, Wang G, Beaudenon S, Howley PM, Huibregtse JM, Pavletich NP.
|
| Science. 286(5443):1321-6. 1999
|
| 51 | UBE3A, UBE3AP1, UBE3AP2
|
| Genomic organization of the UBE3A/E6-AP gene and related pseudogenes.
|
| Kishino T, Wagstaff J.
|
| Genomics 47(1):101-7. 1998
|
| 52 | AS, D15F375S1, D15F376S1, DEXI, GABRA5, HERC2P1, HERC2P2, HERC2P3, MKRN3, PWS, UBE3A
|
| Integrated YAC contig map of the Prader-Willi/Angelman region on chromosome 15q11-q13 with average STS spacing of 35 kb.
|
| Christian SL, Bhatt NK, Martin SA, Sutcliffe JS, Kubota T, Huang B, Mutirangura A, Chinault AC, Beaudet AL, Ledbetter DH.
|
| Genome Res 8(2):146-57. 1998
|
| 53 | AS,UBE3A
|
| UBE3A mutations in two unrelated and phenotypically different Angelman syndrome patients.
|
| Fung DCY, et al.
|
| Hum Genet 102 : 487-492. 1998
|
| 54 | AS,UBE3A
|
| Mutation analysis of UBE3A in Angelman syndrome patients.
|
| Malzac P, et al.
|
| Am J Hum Genet 62 : 1353-1360. 1998
|
| 55 | DYRK1A, EHD1, EMX1, EYA3, JAG2, UBE3A, USP9Y
|
| The embryonic expression pattern of 40 murine cDNAs homologous to Drosophila mutant genes (Dres) : a comparative and topographic approach to predict gene function.
|
| Bulfone A, et al.
|
| Hum Mol Genet 7 : 1997-2006. 1998
|
| 56 | UBE3A
|
| An imprinted antisense RNA overlaps UBE3A and a second maternally expressed transcript.
|
| Rougeulle C, Cardoso C, Fontes M, Colleaux L, Lalande M.
|
| Nat Genet 19(1):15-6. No abstract available. 1998
|
| 57 | UBE3A
|
| Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation.
|
| Jiang YH, Armstrong D, Albrecht U, Atkins CM, Noebels JL, Eichele G, Sweatt JD, Beaudet AL.
|
| Neuron. 21(4):799-811. 1998
|
| 58 | AS,UBE3A
|
| UBE3A/E6-AP mutations cause Angelman syndrome.
|
| Kishino T, et al.
|
| Nat Genet 15 : 70-73. 1997
|
| 59 | AS,UBE3A
|
| De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome.
|
| Matsuura T, et al.
|
| Nat Genet 15 : 74-77. 1997
|
| 60 | AS,UBE3A
|
| Fishing out the Angelman syndrome gene.
|
| Donlon T.
|
| Nat Med 3 : 281. 1997
|
| 61 | UBE3A
|
| The human E6-AP gene (UBE3A) encodes three potential protein isoforms generated by differential splicing.
|
| Yamamoto Y, et al.
|
| Genomics 41 : 263-266. 1997
|
| 62 | UBE3A
|
| The E6-AP ubiquitin-protein ligase (UBE3A) gene is localized within a narrowed Angelman syndrome critical region.
|
| Sutcliffe JS, et al.
|
| Genome Res 7 : 368-377. 1997
|
| 63 | AS,UBE3A
|
| Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons.
|
| Albrecht U, Sutcliffe JS, Cattanach BM, Beechey CV, Armstrong D, Eichele G, Beaudet AL.
|
| Nat Genet 17(1):75-8. 1997
|
| 64 | AS,UBE3A
|
| The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain.
|
| Rougeulle C, Glatt H, Lalande M.
|
| Nat Genet 17(1):14-5. No abstract available. 1997
|
| 65 | AS,UBE3A
|
| Imprinting of the Angelman syndrome gene, UBE3A, is restricted to brain.
|
| Vu TH, Hoffman AR.
|
| Nat Genet 17(1):12-3. No abstract available. 1997
|
| 66 | AS,UBE3A
|
| The elusive Angelman syndrome critical region.
|
| Trent RJ, Sheffield LJ, Deng ZM, Kim WS, Nassif NT, Ryce C, Woods CG, Michaelis RC, Tarleton J, Smith A.
|
| J Med Genet 34(9):714-8. 1997
|
| 67 | UBE2L6, UBE3A
|
| Physical interaction between specific E2 and Hect E3 enzymes determines functional cooperativity.
|
| Kumar S, Kao WH, Howley PM.
|
| J Biol Chem. 272(21):13548-54. 1997
|
| 68 | UBE3A
|
| E3-ubiquitin ligase/E6-AP links multicopy maintenance protein 7 to the ubiquitination pathway by a novel motif, the L2G box.
|
| Kühne C, Banks L.
|
| J Biol Chem. 273(51):34302-9. 1997
|
| 69 | UBE3A
|
| Molecular analysis of the interaction between HPV type 16 E6 and human E6-associated protein.
|
| Daniels PR, Sanders CM, Coulson P, Maitland NJ.
|
| FEBS Lett. 416(1):6-10. 1997
|
| 70 | AS,UBE3A
|
| Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion.
|
| Smith A, et al.
|
| J Med Genet 33 : 107-112. 1996
|
| 71 | UBE3A
|
| Expression of the von Hippel-Lindau disease tumour suppressor gene during human embryogenesis.
|
| Richards FM, et al.
|
| Hum Mol Genet 5 : 639-644. 1996
|
| 72 | UBE3A
|
| Cloning of human ubiquitin-conjugating enzymes UbcH6 and UbcH7 (E2-F1) and characterization of their interaction with E6-AP and RSP5.
|
| Nuber U, Schwarz S, Kaiser P, Schneider R, Scheffner M.
|
| J Biol Chem. 271(5):2795-800. 1996
|
| 73 | UBE3A
|
| A family of proteins structurally and functionally related to the E6-AP ubiquitin-protein ligase.
|
| Huibregtse JM, et al.
|
| Proc Natl Acad Sci U S A 92 : 2563-2567. 1995
|
| 74 | AS, D15S225E, PWS, UBE3A
|
| Imprinting analysis of three genes in the Prader-Willi/Angelman region : SNRPN, E6-associated protein, and PAR-2 (D15S225E).
|
| Nakao M, et al.
|
| Hum Mol Genet 3 : 309-315. 1994
|
| 75 | UBE3A
|
| Cloning and expression of the cDNA for E6-AP, a protein that mediates the interaction of the human papillomavirus E6 oncoprotein with p53.
|
| Huibregtse JM, et al.
|
| Mol Cell Biol 13 : 775-784. 1993
|
| 76 | UBE3A
|
| The HPV-16 E6 and E6-AP complex functions as a ubiquitin-protein ligase in the ubiquitination of p53.
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