메뉴 건너뛰기




Volumn 65, Issue 1, 1999, Pages 1-6

Genetics of Angelman syndrome

Author keywords

[No Author keywords available]

Indexed keywords

SMALL NUCLEAR RIBONUCLEOPROTEIN; UBIQUITIN PROTEIN LIGASE;

EID: 0033358742     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302473     Document Type: Article
Times cited : (170)

References (35)
  • 3
    • 0032231460 scopus 로고    scopus 로고
    • Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: Implications for imprint-switch models, genetic counseling, and prenatal diagnosis
    • Buiting K, Dittrich B, Groß S, Lich C, Buchholz T, Smith E, Reis A, et al (1998) Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis. Am J Hum Genet 63:170-180
    • (1998) Am J Hum Genet , vol.63 , pp. 170-180
    • Buiting, K.1    Dittrich, B.2    Groß, S.3    Lich, C.4    Buchholz, T.5    Smith, E.6    Reis, A.7
  • 5
    • 0033030565 scopus 로고    scopus 로고
    • Evidence for proteasome involvement in polyglutamine disease: Localization to nuclear inclusions in SCA3/MJD and suppression of polyglutamine aggregation in vitro
    • Chai Y, Koppenhafer SL, Shoesmith SJ, Perez MK, Paulson HL (1999) Evidence for proteasome involvement in polyglutamine disease: localization to nuclear inclusions in SCA3/MJD and suppression of polyglutamine aggregation in vitro. Hum Mol Genet 8:673-682
    • (1999) Hum Mol Genet , vol.8 , pp. 673-682
    • Chai, Y.1    Koppenhafer, S.L.2    Shoesmith, S.J.3    Perez, M.K.4    Paulson, H.L.5
  • 6
    • 0031838352 scopus 로고    scopus 로고
    • Chaperone suppression of aggregation and altered subcellular proteasome localization imply protein misfolding in SCA1
    • Cummings CJ, Mancini MA, Antalffy B, DeFranco DB, Orr HT, Zoghbi HY (1998) Chaperone suppression of aggregation and altered subcellular proteasome localization imply protein misfolding in SCA1. Nat Genet 19:148-154
    • (1998) Nat Genet , vol.19 , pp. 148-154
    • Cummings, C.J.1    Mancini, M.A.2    Antalffy, B.3    DeFranco, D.B.4    Orr, H.T.5    Zoghbi, H.Y.6
  • 9
    • 0029960470 scopus 로고    scopus 로고
    • Provirus integration into a gene encoding a ubiquitin-conjugating enzyme results in a placental defect and embryonic lethality
    • Harbers K, Li E, Grams A, Li E, Jaenisch R, Franz T (1996) Provirus integration into a gene encoding a ubiquitin-conjugating enzyme results in a placental defect and embryonic lethality. Proc Natl Acad Sci USA 93:12412-12417
    • (1996) Proc Natl Acad Sci USA , vol.93 , pp. 12412-12417
    • Harbers, K.1    Li, E.2    Grams, A.3    Li, E.4    Jaenisch, R.5    Franz, T.6
  • 11
    • 0025932933 scopus 로고
    • A cellular protein mediates association of p53 with the E6 oncoprotein of human papillomavirus types 16 or 18
    • Huibregtse JM, Scheffner M, Howley PM (1991) A cellular protein mediates association of p53 with the E6 oncoprotein of human papillomavirus types 16 or 18. EMBO J 10: 4129-4135
    • (1991) EMBO J , vol.10 , pp. 4129-4135
    • Huibregtse, J.M.1    Scheffner, M.2    Howley, P.M.3
  • 12
    • 0025847439 scopus 로고
    • Puppet-like syndrome of Angelman: A pathologic and neurochemical study
    • Jay V, Becker LE, Chan F-W, Perry Sr TL (1991) Puppet-like syndrome of Angelman: a pathologic and neurochemical study. Neurology 41:416-422
    • (1991) Neurology , vol.41 , pp. 416-422
    • Jay, V.1    Becker, L.E.2    Chan, F.-W.3    Perry T.L., Sr.4
  • 13
    • 0033016617 scopus 로고    scopus 로고
    • 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
    • Ji Y, Walkowicz MJ, Buiting K, Johnson DK, Tarvin RE, Rinchik EM, Horsthemke B, et al (1999) 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. Hum Mol Genet 8:533-542
    • (1999) Hum Mol Genet , vol.8 , pp. 533-542
    • Ji, Y.1    Walkowicz, M.J.2    Buiting, K.3    Johnson, D.K.4    Tarvin, R.E.5    Rinchik, E.M.6    Horsthemke, B.7
  • 14
    • 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
    • Jiang Y, Armstrong D, Albrecht U, Atkins CM, Noebels JL, Eichele G, Sweatt JD, et al (1998a) Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation. Neuron 21:799-811
    • (1998) Neuron , vol.21 , pp. 799-811
    • Jiang, Y.1    Armstrong, D.2    Albrecht, U.3    Atkins, C.M.4    Noebels, J.L.5    Eichele, G.6    Sweatt, J.D.7
  • 17
    • 0033525589 scopus 로고    scopus 로고
    • A novel ubiquitination factor, E4, is involved in multiubiquitin chain assembly
    • Koegl M, Hoppe T, Schlenker S, Ulrich HD, Mayer TU, Jentsch S (1999) A novel ubiquitination factor, E4, is involved in multiubiquitin chain assembly. Cell 96:635-644
    • (1999) Cell , vol.96 , pp. 635-644
    • Koegl, M.1    Hoppe, T.2    Schlenker, S.3    Ulrich, H.D.4    Mayer, T.U.5    Jentsch, S.6
  • 19
    • 0030458551 scopus 로고    scopus 로고
    • Parental imprinting and human disease
    • Lalande M (1996) Parental imprinting and human disease. Annu Rev Genet 30:173-195
    • (1996) Annu Rev Genet , vol.30 , pp. 173-195
    • Lalande, M.1
  • 20
    • 0001745242 scopus 로고
    • Molecular cytogenetics of contiguous gene syndromes: Mechanisms and consequences of gene dosage imbalance
    • Scriver CR, Beaudet AL, Sly WS, Valle D (eds) McGraw-Hill, New York
    • Ledbetter DH, Ballabio A (1995) Molecular cytogenetics of contiguous gene syndromes: mechanisms and consequences of gene dosage imbalance. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease. McGraw-Hill, New York, pp 811-839
    • (1995) The Metabolic and Molecular Bases of Inherited Disease , pp. 811-839
    • Ledbetter, D.H.1    Ballabio, A.2
  • 22
    • 0032440895 scopus 로고    scopus 로고
    • Memory and long-term potentiation (LTP) dissociated: Normal spatial memory despite CA1 LTP elimination with Kv 1.4 antisense
    • Meiri N, Sun M-K, Segal Z, Alkon DL (1998) Memory and long-term potentiation (LTP) dissociated: normal spatial memory despite CA1 LTP elimination with Kv 1.4 antisense. Proc Natl Acad Sci USA 95:15037-15042
    • (1998) Proc Natl Acad Sci USA , vol.95 , pp. 15037-15042
    • Meiri, N.1    Sun, M.-K.2    Segal, Z.3    Alkon, D.L.4
  • 23
    • 0032907106 scopus 로고    scopus 로고
    • The Angelman syndrome-associated protein, E6-AP, is a coactivator for the nuclear hormone receptor superfamily
    • Nawaz Z, Lonard DM, Smith CL, Lev-Lehman E, Tsai SY, Tsai MJ, O'Malley BW (1999) The Angelman syndrome-associated protein, E6-AP, is a coactivator for the nuclear hormone receptor superfamily. Mol Cell Biol 19: 1182-1189
    • (1999) Mol Cell Biol , vol.19 , pp. 1182-1189
    • Nawaz, Z.1    Lonard, D.M.2    Smith, C.L.3    Lev-Lehman, E.4    Tsai, S.Y.5    Tsai, M.J.6    O'Malley, B.W.7
  • 24
    • 0032076307 scopus 로고    scopus 로고
    • Imprinting in Prader-Willi and Angelman syndromes
    • Nicholls RD, Saitoh S, Horsthemke B (1998) Imprinting in Prader-Willi and Angelman syndromes. Trends Genet 14: 194-200
    • (1998) Trends Genet , vol.14 , pp. 194-200
    • Nicholls, R.D.1    Saitoh, S.2    Horsthemke, B.3
  • 27
    • 0032067559 scopus 로고    scopus 로고
    • An imprinted antisense RNA overlaps UBE3A and a second maternally expressed transcript
    • Rougeulle C, Cardoso C, Fontes M, Colleaux L, Lalande M (1998) An imprinted antisense RNA overlaps UBE3A and a second maternally expressed transcript. Nat Genet 19: 15-16
    • (1998) Nat Genet , vol.19 , pp. 15-16
    • Rougeulle, C.1    Cardoso, C.2    Fontes, M.3    Colleaux, L.4    Lalande, M.5
  • 28
    • 0031228039 scopus 로고    scopus 로고
    • The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain
    • Rougeulle C, Glatt H, Lalande M (1997) The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain. Nat Genet 17:14-15
    • (1997) Nat Genet , vol.17 , pp. 14-15
    • Rougeulle, C.1    Glatt, H.2    Lalande, M.3
  • 29
    • 0027358723 scopus 로고
    • The HPV-16 ET and E6-AP complex functions as a ubiquitin-protein ligase in the ubiquitination of p53
    • Scheffner M, Huibregtse JM, Vierstra RD, Howley PM (1993) The HPV-16 ET and E6-AP complex functions as a ubiquitin-protein ligase in the ubiquitination of p53. Cell 75: 495-505
    • (1993) Cell , vol.75 , pp. 495-505
    • Scheffner, M.1    Huibregtse, J.M.2    Vierstra, R.D.3    Howley, P.M.4
  • 30
    • 0031884981 scopus 로고    scopus 로고
    • A million dollar question: Does LTP = memory?
    • Stevens CF (1998) A million dollar question: Does LTP = memory? Neuron 20:1-2
    • (1998) Neuron , vol.20 , pp. 1-2
    • Stevens, C.F.1
  • 31
    • 0033602445 scopus 로고    scopus 로고
    • Effects of altered gene order or orientation of the locus control region of human β-globin gene expression in mice
    • Tanimoto K, Liu Q, Bungert J, Engel JD (1999) Effects of altered gene order or orientation of the locus control region of human β-globin gene expression in mice. Nature 398: 344-348
    • (1999) Nature , vol.398 , pp. 344-348
    • Tanimoto, K.1    Liu, Q.2    Bungert, J.3    Engel, J.D.4
  • 32
    • 0027945263 scopus 로고
    • Promoter-specific imprinting of the human insulin-like growth factor-II gene
    • Vu TH, Hoffman AR (1994) Promoter-specific imprinting of the human insulin-like growth factor-II gene. Nature 371: 714-717
    • (1994) Nature , vol.371 , pp. 714-717
    • Vu, T.H.1    Hoffman, A.R.2
  • 33
    • 0031230614 scopus 로고    scopus 로고
    • Imprinting of the Angelman syndrome gene, UBE3A, is restricted to brain
    • -(1997) Imprinting of the Angelman syndrome gene, UBE3A, is restricted to brain. Nat Genet 17:12-13
    • (1997) Nat Genet , vol.17 , pp. 12-13
  • 35
    • 0033582626 scopus 로고    scopus 로고
    • A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects
    • Yamagishi H, Garg V, Matsuoka R, Thomas T, Srivastava D (1999) A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects. Science 283: 1158-1161
    • (1999) Science , vol.283 , pp. 1158-1161
    • Yamagishi, H.1    Garg, V.2    Matsuoka, R.3    Thomas, T.4    Srivastava, D.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.