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A candidate model for Angelman syndrome in the mouse.
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Parental imprinting and human disease.
Annu Rev Genet. 1996;30:173-95
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Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons.
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A million dollar question: does LTP = memory?
Neuron. 1998 Jan;20(1):1-2
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The itchy locus encodes a novel ubiquitin protein ligase that is disrupted in a18H mice.
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An imprinted antisense RNA overlaps UBE3A and a second maternally expressed transcript.
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Mutation analysis of UBE3A in Angelman syndrome patients.
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Imprinting in Prader-Willi and Angelman syndromes.
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Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis.
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Imprinting in Angelman and Prader-Willi syndromes.
Curr Opin Genet Dev. 1998 Jun;8(3):334-42
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The ubiquitin system.
Annu Rev Biochem. 1998;67:425-79
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Mice lacking the beta3 subunit of the GABAA receptor have the epilepsy phenotype and many of the behavioral characteristics of Angelman syndrome.
J Neurosci. 1998 Oct 15;18(20):8505-14
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Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation.
Neuron. 1998 Oct;21(4):799-811
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Memory and long-term potentiation (LTP) dissociated: normal spatial memory despite CA1 LTP elimination with Kv1.4 antisense.
Proc Natl Acad Sci U S A. 1998 Dec 8;95(25):15037-42
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Ubiquitin, cellular inclusions and their role in neurodegeneration.
Trends Neurosci. 1998 Dec;21(12):516-20
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The spectrum of mutations in UBE3A causing Angelman syndrome.
Hum Mol Genet. 1999 Jan;8(1):129-35
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The Angelman syndrome-associated protein, E6-AP, is a coactivator for the nuclear hormone receptor superfamily.
Mol Cell Biol. 1999 Feb;19(2):1182-9
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Molecular mechanism of angelman syndrome in two large families involves an imprinting mutation.
Am J Hum Genet. 1999 Feb;64(2):385-96
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The ancestral gene for transcribed, low-copy repeats in the Prader-Willi/Angelman region encodes a large protein implicated in protein trafficking, which is deficient in mice with neuromuscular and spermiogenic abnormalities.
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A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects.
Science. 1999 Feb 19;283(5405):1158-61
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Evidence for proteasome involvement in polyglutamine disease: localization to nuclear inclusions in SCA3/MJD and suppression of polyglutamine aggregation in vitro.
Hum Mol Genet. 1999 Apr;8(4):673-82
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A novel ubiquitination factor, E4, is involved in multiubiquitin chain assembly.
Cell. 1999 Mar 5;96(5):635-44
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Effects of altered gene order or orientation of the locus control region on human beta-globin gene expression in mice.
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Puppet-like syndrome of Angelman: a pathologic and neurochemical study.
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A cellular protein mediates association of p53 with the E6 oncoprotein of human papillomavirus types 16 or 18.
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Angelman's syndrome: a neuropathological study.
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The HPV-16 E6 and E6-AP complex functions as a ubiquitin-protein ligase in the ubiquitination of p53.
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Promoter-specific imprinting of the human insulin-like growth factor-II gene.
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Curr Probl Pediatr. 1995 Aug;25(7):216-31
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Molecular analysis of 36 mutations at the mouse pink-eyed dilution (p) locus.
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Provirus integration into a gene encoding a ubiquitin-conjugating enzyme results in a placental defect and embryonic lethality.
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The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain.
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