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Volumn 17, Issue 1, 1997, Pages 75-78

Imprinted expression of the murine angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons

Author keywords

[No Author keywords available]

Indexed keywords

UBIQUITIN PROTEIN LIGASE;

EID: 0030879482     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0997-75     Document Type: Article
Times cited : (429)

References (23)
  • 1
    • 0028209550 scopus 로고
    • New insights reveal complex mechanisms involved in genomic imprinting
    • Nicholls, R.D. New insights reveal complex mechanisms involved in genomic imprinting. Am. J. Hum. Genet 54, 733-740 (1994).
    • (1994) Am. J. Hum. Genet , vol.54 , pp. 733-740
    • Nicholls, R.D.1
  • 2
    • 0001745242 scopus 로고
    • Molecular cytogenetics of contiguous gene syndromes: Mechanisms and consequences of gene dosage imbalance
    • eds Scriver, C.R., Beaudet A.L., Sly, W.S. & Valle, D. McGraw-Hill, New York
    • Ledbetter, D.H. & Ballabio, A. Molecular cytogenetics of contiguous gene syndromes: mechanisms and consequences of gene dosage imbalance, in The Metabolic and Molecular Bases of Inherited Disease. 7th ed. (eds Scriver, C.R., Beaudet A.L., Sly, W.S. & Valle, D.) 811-639 (McGraw-Hill, New York, 1995).
    • (1995) The Metabolic and Molecular Bases of Inherited Disease. 7th Ed. , pp. 811-1639
    • Ledbetter, D.H.1    Ballabio, A.2
  • 4
    • 0028939902 scopus 로고
    • Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15
    • Buiting, K. et al. Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15. Nature Genet 9, 395-400 (1995).
    • (1995) Nature Genet , vol.9 , pp. 395-400
    • Buiting, K.1
  • 5
    • 0031031570 scopus 로고    scopus 로고
    • De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome
    • Matsuura, T. et al. De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. Nature Genet 15, 74-77 (1997).
    • (1997) Nature Genet , vol.15 , pp. 74-77
    • Matsuura, T.1
  • 6
    • 0031012849 scopus 로고    scopus 로고
    • UBE3A/E6-AP mutations cause Angelman syndrome
    • Kishino, T., Lalande, M. & Wagstaff, J. UBE3A/E6-AP mutations cause Angelman syndrome. Nature Genet 15, 70-73 (1997).
    • (1997) Nature Genet , vol.15 , pp. 70-73
    • Kishino, T.1    Lalande, M.2    Wagstaff, J.3
  • 7
    • 0028044579 scopus 로고
    • Imprinting analysis of three genes in the Prader-Willi/Angelman region: SNRPN, E6-associated protein, and PAR-2 (D155225E)
    • Nakao, M. et al. Imprinting analysis of three genes in the Prader-Willi/Angelman region: SNRPN, E6-associated protein, and PAR-2 (D155225E). Hum. Mol. Genet 3, 309-315 (1994).
    • (1994) Hum. Mol. Genet , vol.3 , pp. 309-315
    • Nakao, M.1
  • 8
    • 0030890115 scopus 로고    scopus 로고
    • The E6-AP ubiquitin-protein ligase (UBE3A) gene is localized within a narrowed Angelman syndrome critical region
    • Sutcliffe, J.S. et al. The E6-AP ubiquitin-protein ligase (UBE3A) gene is localized within a narrowed Angelman syndrome critical region. Genome Res. 7, 368-377 (1997).
    • (1997) Genome Res. , vol.7 , pp. 368-377
    • Sutcliffe, J.S.1
  • 10
    • 0027467897 scopus 로고
    • Cytogenetic and molecular analysis in Angelman syndrome
    • Zackowski, J.L. et al. Cytogenetic and molecular analysis in Angelman syndrome. Am. J. Med. Genet. 46, 7-11 (1993).
    • (1993) Am. J. Med. Genet. , vol.46 , pp. 7-11
    • Zackowski, J.L.1
  • 11
    • 0024619007 scopus 로고
    • Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion
    • Knoll, J.H.M. et al. Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion. Am. J. Med. Genet 32, 285-290 (1989).
    • (1989) Am. J. Med. Genet , vol.32 , pp. 285-290
    • Knoll, J.H.M.1
  • 12
    • 0025052050 scopus 로고
    • Maternal origin of 15q11-13 deletions in Angelman syndrome suggests a role for genomic imprinting
    • Williams, C.A. et al. Maternal origin of 15q11-13 deletions in Angelman syndrome suggests a role for genomic imprinting. Am. J. Med. Genet 35, 350-353 (1990).
    • (1990) Am. J. Med. Genet , vol.35 , pp. 350-353
    • Williams, C.A.1
  • 13
    • 0026080417 scopus 로고
    • Uniparental paternal disomy in Angelman's syndrome
    • Malcolm, S. et al. Uniparental paternal disomy in Angelman's syndrome. Lancet 337, 694-697 (1991).
    • (1991) Lancet , vol.337 , pp. 694-697
    • Malcolm, S.1
  • 14
    • 0028229959 scopus 로고
    • Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes
    • Reis, A. et al. Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes. Am. J. Hum. Genet 54, 741-747 (1994).
    • (1994) Am. J. Hum. Genet , vol.54 , pp. 741-747
    • Reis, A.1
  • 15
    • 0031177936 scopus 로고    scopus 로고
    • A mouse model of Angelman syndrome
    • Cattanach, B. et al. A mouse model of Angelman syndrome. Mamm. Genome 8, 472-478 (1997).
    • (1997) Mamm. Genome , vol.8 , pp. 472-478
    • Cattanach, B.1
  • 17
    • 0025847439 scopus 로고
    • Puppet-like syndrome of Angelman: A pathologic and neurochemical study
    • Jay, V., Becker, L.E., Chan, F.-W. & Perry, T.L. Puppet-like syndrome of Angelman: a pathologic and neurochemical study. Neurology 41, 416-422 (1991).
    • (1991) Neurology , vol.41 , pp. 416-422
    • Jay, V.1    Becker, L.E.2    Chan, F.-W.3    Perry, T.L.4
  • 19
    • 0027396829 scopus 로고
    • Cloning and expression of the cDNA for E6-AP, a protein that mediates the interaction of the human papillomavirus E6 oncoprotein with p53.Mol
    • Huibregtse, J.M., Scheffner, M. & Howley, P.M. Cloning and expression of the cDNA for E6-AP, a protein that mediates the interaction of the human papillomavirus E6 oncoprotein with p53.Mol. Cell Biol. 13, 775-784 (1993).
    • (1993) Cell Biol. , vol.13 , pp. 775-784
    • Huibregtse, J.M.1    Scheffner, M.2    Howley, P.M.3
  • 20
    • 0028898424 scopus 로고
    • Protein ubiquitination involving an E1-E2-E3 enzyme ubiquitin thioester cascade
    • Scheffner, M., Nuber, U. & Huibregtse, J.M. Protein ubiquitination involving an E1-E2-E3 enzyme ubiquitin thioester cascade. Nature 373, 81-83 (1995).
    • (1995) Nature , vol.373 , pp. 81-83
    • Scheffner, M.1    Nuber, U.2    Huibregtse, J.M.3
  • 21
    • 0027945263 scopus 로고
    • Promoter-specific imprinting of the human insulin-like growth factor-II gene
    • Vu, T.H. & Hoffman, A.R. Promoter-specific imprinting of the human insulin-like growth factor-II gene. Nature 371, 714-717 (1994).
    • (1994) Nature , vol.371 , pp. 714-717
    • Vu, T.H.1    Hoffman, A.R.2
  • 22
    • 0025967857 scopus 로고
    • Parental imprinting of the mouse insulin-like growth factor II gene
    • DeChiara, T.M., Robertson, E.J. & Efstratiadis, A. Parental imprinting of the mouse insulin-like growth factor II gene. Cell 64, 849-859 (1991).
    • (1991) Cell , vol.64 , pp. 849-859
    • DeChiara, T.M.1    Robertson, E.J.2    Efstratiadis, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.