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Items: 1 to 20 of 149


Truncation of Ube3a-ATS unsilences paternal Ube3a and ameliorates behavioral defects in the Angelman syndrome mouse model.

Meng L, Person RE, Huang W, Zhu PJ, Costa-Mattioli M, Beaudet AL.

PLoS Genet. 2013;9(12):e1004039. doi: 10.1371/journal.pgen.1004039. Epub 2013 Dec 26.


Towards a therapy for Angelman syndrome by targeting a long non-coding RNA.

Meng L, Ward AJ, Chun S, Bennett CF, Beaudet AL, Rigo F.

Nature. 2015 Feb 19;518(7539):409-12. doi: 10.1038/nature13975. Epub 2014 Dec 1.


Ube3a-ATS is an atypical RNA polymerase II transcript that represses the paternal expression of Ube3a.

Meng L, Person RE, Beaudet AL.

Hum Mol Genet. 2012 Jul 1;21(13):3001-12. doi: 10.1093/hmg/dds130. Epub 2012 Apr 5.


Maternal disruption of Ube3a leads to increased expression of Ube3a-ATS in trans.

Landers M, Calciano MA, Colosi D, Glatt-Deeley H, Wagstaff J, Lalande M.

Nucleic Acids Res. 2005 Jul 18;33(13):3976-84. Print 2005.


R-loop formation at Snord116 mediates topotecan inhibition of Ube3a-antisense and allele-specific chromatin decondensation.

Powell WT, Coulson RL, Gonzales ML, Crary FK, Wong SS, Adams S, Ach RA, Tsang P, Yamada NA, Yasui DH, Ch├ędin F, LaSalle JM.

Proc Natl Acad Sci U S A. 2013 Aug 20;110(34):13938-43. doi: 10.1073/pnas.1305426110. Epub 2013 Aug 5.


Topoisomerase inhibitors unsilence the dormant allele of Ube3a in neurons.

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.

Nature. 2011 Dec 21;481(7380):185-9. doi: 10.1038/nature10726.


Neurons but not glial cells show reciprocal imprinting of sense and antisense transcripts of Ube3a.

Yamasaki K, Joh K, Ohta T, Masuzaki H, Ishimaru T, Mukai T, Niikawa N, Ogawa M, Wagstaff J, Kishino T.

Hum Mol Genet. 2003 Apr 15;12(8):837-47.


Regulation of the large (approximately 1000 kb) imprinted murine Ube3a antisense transcript by alternative exons upstream of Snurf/Snrpn.

Landers M, Bancescu DL, Le Meur E, Rougeulle C, Glatt-Deeley H, Brannan C, Muscatelli F, Lalande M.

Nucleic Acids Res. 2004 Jun 29;32(11):3480-92. Print 2004.


[From pathogenesis to treatment of genetic intellectual disabilities: a lesson from Angelman syndrome research].

Saitoh S.

Nihon Shinkei Seishin Yakurigaku Zasshi. 2013 Jun;33(3):127-30. Review. Japanese.


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. 1997 Sep;17(1):75-8.


Altered ultrasonic vocalization and impaired learning and memory in Angelman syndrome mouse model with a large maternal deletion from Ube3a to Gabrb3.

Jiang YH, Pan Y, Zhu L, Landa L, Yoo J, Spencer C, Lorenzo I, Brilliant M, Noebels J, Beaudet AL.

PLoS One. 2010 Aug 20;5(8):e12278. doi: 10.1371/journal.pone.0012278.


Toward a Broader View of Ube3a in a Mouse Model of Angelman Syndrome: Expression in Brain, Spinal Cord, Sciatic Nerve and Glial Cells.

Grier MD, Carson RP, Lagrange AH.

PLoS One. 2015 Apr 20;10(4):e0124649. doi: 10.1371/journal.pone.0124649. eCollection 2015.


Molecular epigenetics of Angelman syndrome.

Lalande M, Calciano MA.

Cell Mol Life Sci. 2007 Apr;64(7-8):947-60. Review.


Ube3a imprinting impairs circadian robustness in Angelman syndrome models.

Shi SQ, Bichell TJ, Ihrie RA, Johnson CH.

Curr Biol. 2015 Mar 2;25(5):537-45. doi: 10.1016/j.cub.2014.12.047. Epub 2015 Feb 5.


MeCP2 deficiency in Rett syndrome causes epigenetic aberrations at the PWS/AS imprinting center that affects UBE3A expression.

Makedonski K, Abuhatzira L, Kaufman Y, Razin A, Shemer R.

Hum Mol Genet. 2005 Apr 15;14(8):1049-58. Epub 2005 Mar 9.


Angelman syndrome and severe infections in a patient with de novo 15q11.2-q13.1 deletion and maternally inherited 2q21.3 microdeletion.

Neubert G, von Au K, Drossel K, Tzschach A, Horn D, Nickel R, Kaindl AM.

Gene. 2013 Jan 10;512(2):453-5. doi: 10.1016/j.gene.2012.10.061. Epub 2012 Nov 1.


Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes.

Mabb AM, Judson MC, Zylka MJ, Philpot BD.

Trends Neurosci. 2011 Jun;34(6):293-303. doi: 10.1016/j.tins.2011.04.001. Epub 2011 May 17. Review.


A human imprinting centre demonstrates conserved acquisition but diverged maintenance of imprinting in a mouse model for Angelman syndrome imprinting defects.

Johnstone KA, DuBose AJ, Futtner CR, Elmore MD, Brannan CI, Resnick JL.

Hum Mol Genet. 2006 Feb 1;15(3):393-404. Epub 2005 Dec 20.


Mitochondrial dysfunction in CA1 hippocampal neurons of the UBE3A deficient mouse model for Angelman syndrome.

Su H, Fan W, Coskun PE, Vesa J, Gold JA, Jiang YH, Potluri P, Procaccio V, Acab A, Weiss JH, Wallace DC, Kimonis VE.

Neurosci Lett. 2011 Jan 7;487(2):129-33. doi: 10.1016/j.neulet.2009.06.079. Epub 2009 Jun 27.


Ube3a reinstatement identifies distinct developmental windows in a murine Angelman syndrome model.

Silva-Santos S, van Woerden GM, Bruinsma CF, Mientjes E, Jolfaei MA, Distel B, Kushner SA, Elgersma Y.

J Clin Invest. 2015 May;125(5):2069-76. doi: 10.1172/JCI80554. Epub 2015 Apr 13.

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