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Volumn 16, Issue 6, 2012, Pages 587-591

Spatial and temporal silencing of the human maternal UBE3A gene

Author keywords

Angelman syndrome; E6 AP; Mouse model; Post mortem; UBE3A

Indexed keywords

UBIQUITIN PROTEIN LIGASE E3;

EID: 84867097141     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2012.03.006     Document Type: Article
Times cited : (10)

References (27)
  • 1
    • 33644865491 scopus 로고    scopus 로고
    • Angelman syndrome 2005: Updated consensus for diagnostic criteria
    • C.A. Williams Angelman syndrome 2005: updated consensus for diagnostic criteria American Journal of Medical Genetics Part A 140 5 2006 413 418
    • (2006) American Journal of Medical Genetics Part A , vol.140 , Issue.5 , pp. 413-418
    • Williams, C.A.1
  • 2
    • 0028209550 scopus 로고
    • New insights reveal complex mechanisms involved in genomic imprinting
    • R.D. Nicholls New insights reveal complex mechanisms involved in genomic imprinting American Journal of Medical Genetics 54 5 1994 733
    • (1994) American Journal of Medical Genetics , vol.54 , Issue.5 , pp. 733
    • Nicholls, R.D.1
  • 4
    • 0023617404 scopus 로고
    • Clinical heterogeneity associated with deletions in the long arm of chromosome 15: Report of 3 new cases and their possible genetic significance
    • L.C. Kaplan Clinical heterogeneity associated with deletions in the long arm of chromosome 15: report of 3 new cases and their possible genetic significance American Journal of Medical Genetics 28 1 1987 45 53
    • (1987) American Journal of Medical Genetics , vol.28 , Issue.1 , pp. 45-53
    • Kaplan, L.C.1
  • 5
    • 0028939902 scopus 로고
    • Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15
    • K. Buiting Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15 Nature Genetics 9 4 1995 395 400
    • (1995) Nature Genetics , vol.9 , Issue.4 , pp. 395-400
    • Buiting, K.1
  • 6
    • 0033529801 scopus 로고    scopus 로고
    • A transgene insertion creating a heritable chromosome deletion mouse model of Prader-Willi and Angelman syndromes
    • J. Gabriel A transgene insertion creating a heritable chromosome deletion mouse model of Prader-Willi and Angelman syndromes Proceedings of the National Academy of Sciences 96 16 1999 9258
    • (1999) Proceedings of the National Academy of Sciences , vol.96 , Issue.16 , pp. 9258
    • Gabriel, J.1
  • 7
    • 0024619007 scopus 로고
    • Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion
    • J. Knoll Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion American Journal of Medical Genetics 32 2 1989 285 290
    • (1989) American Journal of Medical Genetics , vol.32 , Issue.2 , pp. 285-290
    • Knoll, J.1
  • 8
    • 0027474136 scopus 로고
    • Clinical research on Angelman syndrome in the United Kingdom: Observations on 82 affected individuals
    • J. Clayton-Smith Clinical research on Angelman syndrome in the United Kingdom: observations on 82 affected individuals American Journal of Medical Genetics 46 1 1993 12 15
    • (1993) American Journal of Medical Genetics , vol.46 , Issue.1 , pp. 12-15
    • Clayton-Smith, J.1
  • 10
    • 0036656728 scopus 로고    scopus 로고
    • Referral diagnosis of Prader-Willi syndrome and Angelman syndrome based on methylation-specific polymerase chain reaction
    • Y.N. Teng Referral diagnosis of Prader-Willi syndrome and Angelman syndrome based on methylation-specific polymerase chain reaction Journal-Formosan Medical Association 101 7 2002 488 494
    • (2002) Journal-Formosan Medical Association , vol.101 , Issue.7 , pp. 488-494
    • Teng, Y.N.1
  • 11
    • 0028907874 scopus 로고
    • A family of proteins structurally and functionally related to the E6-AP ubiquitin-protein ligase
    • J.M. Huibregtse A family of proteins structurally and functionally related to the E6-AP ubiquitin-protein ligase Proceedings of the National Academy of Sciences 92 7 1995 2563
    • (1995) Proceedings of the National Academy of Sciences , vol.92 , Issue.7 , pp. 2563
    • Huibregtse, J.M.1
  • 12
    • 0033603339 scopus 로고    scopus 로고
    • Identification of HHR23A as a substrate for E6-associated protein-mediated ubiquitination
    • S. Kumar, A.L. Talis, and P.M. Howley Identification of HHR23A as a substrate for E6-associated protein-mediated ubiquitination Journal of Biological Chemistry 274 26 1999 18785
    • (1999) Journal of Biological Chemistry , vol.274 , Issue.26 , pp. 18785
    • Kumar, S.1    Talis, A.L.2    Howley, P.M.3
  • 13
    • 0032525905 scopus 로고    scopus 로고
    • The ubiquitin-protein ligase E6-associated protein (E6-AP) serves as its own substrate
    • U. Nuber, S.E. Schwarz, and M. Scheffner The ubiquitin-protein ligase E6-associated protein (E6-AP) serves as its own substrate European Journal of Biochemistry 254 3 1998 643 649
    • (1998) European Journal of Biochemistry , vol.254 , Issue.3 , pp. 643-649
    • Nuber, U.1    Schwarz, S.E.2    Scheffner, M.3
  • 14
    • 33847210262 scopus 로고    scopus 로고
    • Rescue of neurological deficits in a mouse model for Angelman syndrome by reduction of αcaMKII inhibitory phosphorylation
    • G.M. van Woerden Rescue of neurological deficits in a mouse model for Angelman syndrome by reduction of αCaMKII inhibitory phosphorylation Nature Neuroscience 10 3 2007 280 282
    • (2007) Nature Neuroscience , vol.10 , Issue.3 , pp. 280-282
    • Van Woerden, G.M.1
  • 15
    • 0030879482 scopus 로고    scopus 로고
    • Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons
    • U. Albrecht Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons Nature Genetics 17 1 1997 75 78
    • (1997) Nature Genetics , vol.17 , Issue.1 , pp. 75-78
    • Albrecht, U.1
  • 16
    • 77954957575 scopus 로고    scopus 로고
    • Tissue-specific variation of Ube3a protein expression in rodents and in a mouse model of Angelman syndrome
    • R.M. Gustin Tissue-specific variation of Ube3a protein expression in rodents and in a mouse model of Angelman syndrome Neurobiology of Disease 39 3 2010 283 291
    • (2010) Neurobiology of Disease , vol.39 , Issue.3 , pp. 283-291
    • Gustin, R.M.1
  • 17
    • 0032192481 scopus 로고    scopus 로고
    • Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation
    • Y. Jiang Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation Neuron 21 4 1998 799 811
    • (1998) Neuron , vol.21 , Issue.4 , pp. 799-811
    • Jiang, Y.1
  • 18
    • 67349178189 scopus 로고    scopus 로고
    • Ube3a is required for experience-dependent maturation of the neocortex
    • K. Yashiro Ube3a is required for experience-dependent maturation of the neocortex Nature Neuroscience 12 6 2009 777 783
    • (2009) Nature Neuroscience , vol.12 , Issue.6 , pp. 777-783
    • Yashiro, K.1
  • 19
    • 77956324028 scopus 로고    scopus 로고
    • Loss of dopaminergic neurons and resulting behavioural deficits in mouse model of Angelman syndrome
    • S.A. Mulherkar, and N.R. Jana Loss of dopaminergic neurons and resulting behavioural deficits in mouse model of Angelman syndrome Neurobiology of Disease 40 3 2010 586 592
    • (2010) Neurobiology of Disease , vol.40 , Issue.3 , pp. 586-592
    • Mulherkar, S.A.1    Jana, N.R.2
  • 20
    • 0242432463 scopus 로고    scopus 로고
    • Neurons but not glial cells show reciprocal imprinting of sense and antisense transcripts of Ube3a
    • K. Yamasaki Neurons but not glial cells show reciprocal imprinting of sense and antisense transcripts of Ube3a Human Molecular Genetics 12 8 2003 837
    • (2003) Human Molecular Genetics , vol.12 , Issue.8 , pp. 837
    • Yamasaki, K.1
  • 21
    • 84855807682 scopus 로고    scopus 로고
    • Topoisomerase inhibitors unsilence the dormant allele of Ube3a in neurons
    • H.S. Huang Topoisomerase inhibitors unsilence the dormant allele of Ube3a in neurons Nature 481 7380 2011 185 189
    • (2011) Nature , vol.481 , Issue.7380 , pp. 185-189
    • Huang, H.S.1
  • 22
    • 67549083336 scopus 로고    scopus 로고
    • Abnormal behavior in a chromosome-engineered mouse model for human 15q11-13 duplication seen in autism
    • J. Nakatani Abnormal behavior in a chromosome-engineered mouse model for human 15q11-13 duplication seen in autism Cell 137 7 2009 1235 1246
    • (2009) Cell , vol.137 , Issue.7 , pp. 1235-1246
    • Nakatani, J.1
  • 23
    • 79953279960 scopus 로고    scopus 로고
    • Autism susceptibility genes identification by linkage analysis: A review
    • V. Rai Autism susceptibility genes identification by linkage analysis: a review International Journal of Human Genetics 10 4 2010 207 216
    • (2010) International Journal of Human Genetics , vol.10 , Issue.4 , pp. 207-216
    • Rai, V.1
  • 24
    • 5444246895 scopus 로고    scopus 로고
    • A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A
    • Y. Jiang A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A American Journal of Medical Genetics Part A 131 1 2004 1 10
    • (2004) American Journal of Medical Genetics Part A , vol.131 , Issue.1 , pp. 1-10
    • Jiang, Y.1
  • 25
    • 0037317655 scopus 로고    scopus 로고
    • Genetics of childhood disorders: XLVII. autism, part 6: Duplication and inherited susceptibility of chromosome 15q11-q13 genes in autism
    • J.S. Sutcliffe, E.L. Nurmi, and P.J. Lombroso Genetics of childhood disorders: XLVII. autism, part 6: duplication and inherited susceptibility of chromosome 15q11-q13 genes in autism Journal of the American Academy of Child and Adolescent Psychiatry 42 2 2003 253
    • (2003) Journal of the American Academy of Child and Adolescent Psychiatry , vol.42 , Issue.2 , pp. 253
    • Sutcliffe, J.S.1    Nurmi, E.L.2    Lombroso, P.J.3
  • 26
    • 10044291716 scopus 로고    scopus 로고
    • Fast cerebellar oscillation associated with ataxia in a mouse model of Angelman syndrome
    • G. Cheron Fast cerebellar oscillation associated with ataxia in a mouse model of Angelman syndrome Neuroscience 130 3 2005 631 637
    • (2005) Neuroscience , vol.130 , Issue.3 , pp. 631-637
    • Cheron, G.1
  • 27
    • 37549057995 scopus 로고    scopus 로고
    • The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology
    • S.V. Dindot The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology Human Molecular Genetics 17 1 2008 111
    • (2008) Human Molecular Genetics , vol.17 , Issue.1 , pp. 111
    • Dindot, S.V.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.