-
1
-
-
84870425303
-
The ubiquitin proteasome pathway (upp) in the regulation of cell cycle control and DNA damage repair and its implication in tumorigenesis
-
Tu Y, Chen C, Pan J, Xu J, Zhou ZG, Wang CY. The ubiquitin proteasome pathway (upp) in the regulation of cell cycle control and DNA damage repair and its implication in tumorigenesis. Int. J. Clin. Exp. Pathol. 5(8), 726-738 (2012
-
(2012)
Int. J. Clin. Exp. Pathol
, vol.5
, Issue.8
, pp. 726-738
-
-
Tu, Y.1
Chen, C.2
Pan, J.3
Xu, J.4
Zhou, Z.G.5
Wang, C.Y.6
-
2
-
-
0027396829
-
Cloning and expression of the cDNA for E6-AP, a protein that mediates the interaction of the human papillomavirus E6 oncoprotein with p53
-
Huibregtse JM, Scheffner M, Howley PM. 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(2), 775-784 (1993
-
(1993)
Mol. Cell. Biol
, vol.13
, Issue.2
, pp. 775-784
-
-
Huibregtse, J.M.1
Scheffner, M.2
Howley, P.M.3
-
3
-
-
0037294984
-
Requirement of E6AP and the features of human papillomavirus E6 necessary to support degradation of p53
-
Cooper B, Schneider S, Bohl J, Jiang Y, Beaudet A, Vande Pol S. Requirement of E6AP and the features of human papillomavirus E6 necessary to support degradation of p53. Virology 306(1), 87-99 (2003
-
(2003)
Virology
, vol.306
, Issue.1
, pp. 87-99
-
-
Cooper, B.1
Schneider, S.2
Bohl, J.3
Jiang, Y.4
Beaudet, A.5
Vande Pol, S.6
-
4
-
-
33846497347
-
Regulation of catalytic activities of HECT ubiquitin ligases
-
Kee Y, Huibregtse JM. Regulation of catalytic activities of HECT ubiquitin ligases. Biochem. Biophys. Res. Commun. 354(2), 329-333 (2007
-
(2007)
Biochem. Biophys. Res. Commun
, vol.354
, Issue.2
, pp. 329-333
-
-
Kee, Y.1
Huibregtse, J.M.2
-
5
-
-
38449106894
-
HECT E3s and human disease
-
Scheffner M, Staub O. HECT E3s and human disease. BMC Biochem. 8(Suppl. 1), S6 (2007
-
(2007)
BMC Biochem
, vol.8
, Issue.1
, pp. S6
-
-
Scheffner, M.1
Staub, O.2
-
6
-
-
0032741446
-
Structure of an E6APUbcH7 complex: Insights into ubiquitination by the E2-E3 enzyme cascade
-
Huang L, Kinnucan E, Wang G, et al. Structure of an E6APUbcH7 complex: insights into ubiquitination by the E2-E3 enzyme cascade. Science 286(5443), 1321-1326 (1999
-
(1999)
Science
, vol.286
, Issue.5443
, pp. 1321-1326
-
-
Huang, L.1
Kinnucan, E.2
Wang, G.3
-
7
-
-
84876237590
-
E6AP/UBE3A ubiquitin ligase harbors two E2 ubiquitin binding sites
-
Ronchi VP, Klein JM, Haas AL. E6AP/UBE3A ubiquitin ligase harbors two E2 ubiquitin binding sites. J. Biol. Chem. 288(15), 10349-10360 (2013
-
(2013)
J. Biol. Chem
, vol.288
, Issue.15
, pp. 10349-10360
-
-
Ronchi, V.P.1
Klein, J.M.2
Haas, A.L.3
-
8
-
-
34247617223
-
Sequence determinants of E2-E6AP binding affinity and specificity
-
Eletr ZM, Kuhlman B. Sequence determinants of E2-E6AP binding affinity and specificity. J. Mol. Biol. 369(2), 419-428 (2007
-
(2007)
J. Mol. Biol
, vol.369
, Issue.2
, pp. 419-428
-
-
Eletr, Z.M.1
Kuhlman, B.2
-
9
-
-
44349130890
-
E6-associated protein (E6-AP) is a dual function coactivator of steroid hormone receptors
-
Ramamoorthy S, Nawaz Z. E6-associated protein (E6-AP) is a dual function coactivator of steroid hormone receptors. Nucl. Recept. Sig. 6, e006 (2008
-
(2008)
Nucl. Recept. Sig
, vol.6
, pp. e006
-
-
Ramamoorthy, S.1
Nawaz, Z.2
-
10
-
-
0032907106
-
The angelman syndrome-associated protein, E6-AP, is a coactivator for the nuclear hormone receptor superfamily
-
Nawaz Z, Lonard DM, Smith CL, et al. The angelman syndrome-associated protein, E6-AP, is a coactivator for the nuclear hormone receptor superfamily. Mol. Cell. Biol. 19(2), 1182-1189 (1999
-
(1999)
Mol. Cell. Biol
, vol.19
, Issue.2
, pp. 1182-1189
-
-
Nawaz, Z.1
Lonard, D.M.2
Smith, C.L.3
-
11
-
-
0033514930
-
Proteasome-dependent degradation of the human estrogen receptor
-
Nawaz Z, Lonard DM, Dennis AP, Smith CL, O'Malley BW. Proteasome-dependent degradation of the human estrogen receptor. Proc. Natl Acad. Sci. USA 96(5), 1858-1862 (1999
-
(1999)
Proc. Natl Acad. Sci. USA
, vol.96
, Issue.5
, pp. 1858-1862
-
-
Nawaz, Z.1
Lonard, D.M.2
Dennis, A.P.3
Smith, C.L.4
O'Malley, B.W.5
-
12
-
-
79959904141
-
E6-AP facilitates efficient transcription at estrogen responsive promoters through recruitment of chromatin modifiers
-
Catoe HW, Nawaz Z. E6-AP facilitates efficient transcription at estrogen responsive promoters through recruitment of chromatin modifiers. Steroids 76(9), 897-902 (2011
-
(2011)
Steroids
, vol.76
, Issue.9
, pp. 897-902
-
-
Catoe, H.W.1
Nawaz, Z.2
-
13
-
-
33344469819
-
Multifunction steroid receptor coactivator, E6-associated protein, is involved in development of the prostate gland
-
Khan OY, Fu G, Ismail A, et al. Multifunction steroid receptor coactivator, E6-associated protein, is involved in development of the prostate gland. Mol. Endocrinol. 20(3), 544-559 (2006
-
(2006)
Mol. Endocrinol
, vol.20
, Issue.3
, pp. 544-559
-
-
Khan, O.Y.1
Fu, G.2
Ismail, A.3
-
14
-
-
33748497595
-
HPV16-E6 associated hTERT promoter acetylation is E6AP dependent, increased in later passage cells and enhanced by loss of p300
-
James MA, Lee JH, Klingelhutz AJ. HPV16-E6 associated hTERT promoter acetylation is E6AP dependent, increased in later passage cells and enhanced by loss of p300. Int. J. Cancer 119(8), 1878-1885 (2006
-
(2006)
Int. J. Cancer
, vol.119
, Issue.8
, pp. 1878-1885
-
-
James, M.A.1
Lee, J.H.2
Klingelhutz, A.J.3
-
15
-
-
84876520352
-
Proteomic profiling in drosophila reveals potential dube3a regulation of the actin cytoskeleton and neuronal homeostasis
-
Jensen LJ, Farook MF, Reiter LT. Proteomic profiling in Drosophila reveals potential Dube3a regulation of the actin cytoskeleton and neuronal homeostasis. PLoS ONE 8(4), e61952 (2013
-
(2013)
Plos One
, vol.8
, Issue.4
, pp. e61952
-
-
Jensen, L.J.1
Farook, M.F.2
Reiter, L.T.3
-
16
-
-
79151474498
-
Drosophila UBE3A regulates monoamine synthesis by increasing GTP cyclohydrolase i activity via a non-ubiquitin ligase mechanism
-
Ferdousy F, Bodeen W, Summers K, et al. Drosophila UBE3A regulates monoamine synthesis by increasing GTP cyclohydrolase I activity via a non-ubiquitin ligase mechanism. Neurobiol. Dis. 41(3), 669-677 (2011
-
(2011)
Neurobiol. Dis
, vol.41
, Issue.3
, pp. 669-677
-
-
Ferdousy, F.1
Bodeen, W.2
Summers, K.3
-
17
-
-
84896505115
-
E6AP in the brain: One protein, dual function, multiple diseases
-
El Hokayem J, Nawaz Z. E6AP in the brain: one protein, dual function, multiple diseases. Mol. Neurobiol. 49(2), 827-839 (2014
-
(2014)
Mol. Neurobiol
, vol.49
, Issue.2
, pp. 827-839
-
-
El Hokayem, J.1
Nawaz, Z.2
-
18
-
-
84906923071
-
Gene expression analysis of human induced pluripotent stem cell-derived neurons carrying copy number variants of chromosome 15q11-q13.1
-
Germain ND, Chen PF, Plocik AM, et al. Gene expression analysis of human induced pluripotent stem cell-derived neurons carrying copy number variants of chromosome 15q11-q13.1. Mol. Autism 5, 44 (2014
-
(2014)
Mol. Autism
, vol.5
, pp. 44
-
-
Germain, N.D.1
Chen, P.F.2
Plocik, A.M.3
-
19
-
-
84871783676
-
The Angelman syndrome protein Ube3a is required for polarized dendrite morphogenesis in pyramidal neurons
-
Miao S, Chen R, Ye J, et al. The Angelman syndrome protein Ube3a is required for polarized dendrite morphogenesis in pyramidal neurons. J. Neurosci. 33(1), 327-333 (2013
-
(2013)
J. Neurosci
, vol.33
, Issue.1
, pp. 327-333
-
-
Miao, S.1
Chen, R.2
Ye, J.3
-
20
-
-
77649083119
-
The angelman syndrome protein ube3a regulates synapse development by ubiquitinating arc
-
Greer PL, Hanayama R, Bloodgood BL, et al. The Angelman syndrome protein Ube3a regulates synapse development by ubiquitinating arc. Cell 140(5), 704-716 (2010
-
(2010)
Cell
, vol.140
, Issue.5
, pp. 704-716
-
-
Greer, P.L.1
Hanayama, R.2
Bloodgood, B.L.3
-
21
-
-
84949856502
-
-
RefSeq: NCBI. www.ncbi.nlm.nih.gov/refseq/
-
Ref Seq: NCBI
-
-
-
23
-
-
37549057995
-
The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology
-
Dindot SV, Antalffy BA, Bhattacharjee MB, et al. The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology. Hum. Mol. Genet. 17(1), 111-118 (2008
-
(2008)
Hum. Mol. Genet
, vol.17
, Issue.1
, pp. 111-118
-
-
Dindot, S.V.1
Antalffy, B.A.2
Bhattacharjee, M.B.3
-
24
-
-
67349178189
-
Ube3a is required for experience-dependent maturation of the neocortex
-
Yashiro K, Riday TT, Condon KH, et al. Ube3a is required for experience-dependent maturation of the neocortex. Nat. Neurosci. 12(6), 777-783 (2009
-
(2009)
Nat. Neurosci
, vol.12
, Issue.6
, pp. 777-783
-
-
Yashiro, K.1
Riday, T.T.2
Condon, K.H.3
-
25
-
-
78049395303
-
Ubiquitination in postsynaptic function and plasticity
-
Mabb AM, Ehlers MD. Ubiquitination in postsynaptic function and plasticity. Ann. Rev. Cell Dev. Biol. 26, 179-210 (2010
-
(2010)
Ann. Rev. Cell Dev. Biol
, vol.26
, pp. 179-210
-
-
Mabb, A.M.1
Ehlers, M.D.2
-
26
-
-
84928699039
-
A codingindependent function of an alternative Ube3a transcript during neuronal development
-
Valluy J, Bicker S, Aksoy-Aksel A, et al. A codingindependent function of an alternative Ube3a transcript during neuronal development. Nat. Neurosci.18(5), 666-673 (2015
-
(2015)
Nat. Neurosci
, vol.18
, Issue.5
, pp. 666-673
-
-
Valluy, J.1
Bicker, S.2
Aksoy-Aksel, A.3
-
28
-
-
84902668478
-
Autoregulation of the 26S proteasome by in situ ubiquitination
-
Jacobson AD, Macfadden A, Wu Z, Peng J, Liu CW. Autoregulation of the 26S proteasome by in situ ubiquitination. Mol. Biol. Cell 25(12), 1824-1835 (2014
-
(2014)
Mol. Biol. Cell
, vol.25
, Issue.12
, pp. 1824-1835
-
-
Jacobson, A.D.1
Macfadden, A.2
Wu, Z.3
Peng, J.4
Liu, C.W.5
-
29
-
-
33947380146
-
Mass spectrometric characterization of the affinity-purified human 26S proteasome complex
-
Wang X, Chen CF, Baker PR, Chen PL, Kaiser P, Huang L. Mass spectrometric characterization of the affinity-purified human 26S proteasome complex. Biochemistry 46(11), 3553-3565 (2007
-
(2007)
Biochemistry
, vol.46
, Issue.11
, pp. 3553-3565
-
-
Wang, X.1
Chen, C.F.2
Baker, P.R.3
Chen, P.L.4
Kaiser, P.5
Huang, L.6
-
30
-
-
0032524621
-
Characterization of human HECT domain family members and their interaction with UbcH5 and UbcH7
-
Schwarz SE, Rosa JL, Scheffner M. Characterization of human HECT domain family members and their interaction with UbcH5 and UbcH7. J. Biol. Chem. 273(20), 12148-12154 (1998
-
(1998)
J. Biol. Chem
, vol.273
, Issue.20
, pp. 12148-12154
-
-
Schwarz, S.E.1
Rosa, J.L.2
Scheffner, M.3
-
31
-
-
84891957449
-
The active form of E6-associated protein (E6AP)/UBE3A ubiquitin ligase is an oligomer
-
Ronchi VP, Klein JM, Edwards DJ, Haas AL. The active form of E6-associated protein (E6AP)/UBE3A ubiquitin ligase is an oligomer. J. Biol. Chem. 289(2), 1033-1048 (2014
-
(2014)
J. Biol. Chem
, vol.289
, Issue.2
, pp. 1033-1048
-
-
Ronchi, V.P.1
Klein, J.M.2
Edwards, D.J.3
Haas, A.L.4
-
32
-
-
77951075391
-
Regulation of the polycomb protein Ring1B by self-ubiquitination or by E6-AP may have implications to the pathogenesis of angelman syndrome
-
Zaaroor-Regev D, De Bie P, Scheffner M, et al. Regulation of the polycomb protein Ring1B by self-ubiquitination or by E6-AP may have implications to the pathogenesis of angelman syndrome. Proc. Natl Acad. Sci. USA 107(15), 6788-6793 (2010
-
(2010)
Proc. Natl Acad. Sci. USA
, vol.107
, Issue.15
, pp. 6788-6793
-
-
Zaaroor-Regev, D.1
De Bie, P.2
Scheffner, M.3
-
33
-
-
79957613292
-
Physical and functional interaction of the HECT ubiquitin-protein ligases E6AP and HERC2
-
Kuhnle S, Kogel U, Glockzin S, et al. Physical and functional interaction of the HECT ubiquitin-protein ligases E6AP and HERC2. J. Biol. Chem. 286(22), 19410-19416 (2011
-
(2011)
J. Biol. Chem
, vol.286
, Issue.22
, pp. 19410-19416
-
-
Kuhnle, S.1
Kogel, U.2
Glockzin, S.3
-
34
-
-
78651299379
-
E6AP ubiquitin ligase mediates ubiquitin-dependent degradation of peroxiredoxin 1
-
Nasu J, Murakami K, Miyagawa S, et al. E6AP ubiquitin ligase mediates ubiquitin-dependent degradation of peroxiredoxin 1. J. Cell. Biochem. 111(3), 676-685 (2010
-
(2010)
J. Cell. Biochem
, vol.111
, Issue.3
, pp. 676-685
-
-
Nasu, J.1
Murakami, K.2
Miyagawa, S.3
-
35
-
-
38849141014
-
Phosphorylation of activation function-1 regulates proteasome-dependent nuclear mobility and E6-associated protein ubiquitin ligase recruitment to the estrogen receptor beta
-
Picard N, Charbonneau C, Sanchez M, et al. Phosphorylation of activation function-1 regulates proteasome-dependent nuclear mobility and E6-associated protein ubiquitin ligase recruitment to the estrogen receptor beta. Mol. Endocrin. 22(2), 317-330 (2008
-
(2008)
Mol. Endocrin
, vol.22
, Issue.2
, pp. 317-330
-
-
Picard, N.1
Charbonneau, C.2
Sanchez, M.3
-
36
-
-
84901335708
-
The E3 ubiquitin ligase UBE3A is an integral component of the molecular circadian clock through regulating the BMAL1 transcription factor
-
Gossan NC, Zhang F, Guo B, et al. The E3 ubiquitin ligase UBE3A is an integral component of the molecular circadian clock through regulating the BMAL1 transcription factor. Nucleic Acids Res. 42(9), 5765-5775 (2014
-
(2014)
Nucleic Acids Res
, vol.42
, Issue.9
, pp. 5765-5775
-
-
Gossan, N.C.1
Zhang, F.2
Guo, B.3
-
37
-
-
84924652874
-
Ube3a imprinting impairs circadian robustness in Angelman syndrome models
-
Shi SQ, Bichell TJ, Ihrie RA, Johnson CH. Ube3a imprinting impairs circadian robustness in Angelman syndrome models. Curr. Biol. 25(5), 537-545 (2015
-
(2015)
Curr. Biol
, vol.25
, Issue.5
, pp. 537-545
-
-
Shi, S.Q.1
Bichell, T.J.2
Ihrie, R.A.3
Johnson, C.H.4
-
38
-
-
77958487953
-
EphBmediated degradation of the RhoA GEF Ephexin5 relieves a developmental brake on excitatory synapse formation
-
Margolis SS, Salogiannis J, Lipton DM, et al. EphBmediated degradation of the RhoA GEF Ephexin5 relieves a developmental brake on excitatory synapse formation. Cell 143(3), 442-455 (2010
-
(2010)
Cell
, vol.143
, Issue.3
, pp. 442-455
-
-
Margolis, S.S.1
Salogiannis, J.2
Lipton, D.M.3
-
39
-
-
33748751286
-
Expression of the Rho-GEF Pbl/ECT2 is regulated by the UBE3A E3 ubiquitin ligase
-
Reiter LT, Seagroves TN, Bowers M, Bier E. Expression of the Rho-GEF Pbl/ECT2 is regulated by the UBE3A E3 ubiquitin ligase. Hum. Mol. Genet. 15(18), 2825-2835 (2006
-
(2006)
Hum. Mol. Genet
, vol.15
, Issue.18
, pp. 2825-2835
-
-
Reiter, L.T.1
Seagroves, T.N.2
Bowers, M.3
Bier, E.4
-
40
-
-
0033603339
-
Identification of HHR23A as a substrate for E6-associated protein-mediated ubiquitination
-
Kumar S, Talis AL, Howley PM. Identification of HHR23A as a substrate for E6-associated protein-mediated ubiquitination. J. Biol. Chem. 274(26), 18785-18792 (1999
-
(1999)
J. Biol. Chem
, vol.274
, Issue.26
, pp. 18785-18792
-
-
Kumar, S.1
Talis, A.L.2
Howley, P.M.3
-
41
-
-
67449107793
-
The ubiquitin ligase E6-AP is induced and recruited to aggresomes in response to proteasome inhibition and may be involved in the ubiquitination of HSP70-bound misfolded proteins
-
Mishra A, Godavarthi SK, Maheshwari M, Goswami A, Jana NR. The ubiquitin ligase E6-AP is induced and recruited to aggresomes in response to proteasome inhibition and may be involved in the ubiquitination of HSP70-bound misfolded proteins. J. Biol. Chem. 284(16), 10537-10545 (2009
-
(2009)
J. Biol. Chem
, vol.284
, Issue.16
, pp. 10537-10545
-
-
Mishra, A.1
Godavarthi, S.K.2
Maheshwari, M.3
Goswami, A.4
Jana, N.R.5
-
42
-
-
39749113228
-
E3 ubiquitin ligase E6APmediated TSC2 turnover in the presence and absence of HPV16 E6
-
Zheng L, Ding H, Lu Z, et al. E3 ubiquitin ligase E6APmediated TSC2 turnover in the presence and absence of HPV16 E6. Genes Cells 13(3), 285-294 (2008
-
(2008)
Genes Cells
, vol.13
, Issue.3
, pp. 285-294
-
-
Zheng, L.1
Ding, H.2
Lu, Z.3
-
43
-
-
84925047891
-
Imbalanced mechanistic target of rapamycin C1 and C2 activity in the cerebellum of Angelman syndrome mice impairs motor function
-
Sun J, Liu Y, Moreno S, Baudry M, Bi X. Imbalanced mechanistic target of rapamycin C1 and C2 activity in the cerebellum of Angelman syndrome mice impairs motor function. J. Neurosci. 35(11), 4706-4718 (2015
-
(2015)
J. Neurosci
, vol.35
, Issue.11
, pp. 4706-4718
-
-
Sun, J.1
Liu, Y.2
Moreno, S.3
Baudry, M.4
Bi, X.5
-
44
-
-
84903269479
-
Ube3a, the E3 ubiquitin ligase causing angelman syndrome and linked to autism, regulates protein homeostasis through the proteasomal shuttle RPN10
-
Lee SY, Ramirez J, Franco M, et al. Ube3a, the E3 ubiquitin ligase causing angelman syndrome and linked to autism, regulates protein homeostasis through the proteasomal shuttle RPN10. Cell. Mol. Life Sci. 71(14), 2747-2758 (2014
-
(2014)
Cell. Mol. Life Sci
, vol.71
, Issue.14
, pp. 2747-2758
-
-
Lee, S.Y.1
Ramirez, J.2
Franco, M.3
-
45
-
-
84922648613
-
Proteomic analysis and identification of cellular interactors of the giant ubiquitin ligase HERC2
-
Galligan JT, Martinez-Noel G, Arndt V, et al. Proteomic analysis and identification of cellular interactors of the giant ubiquitin ligase HERC2. J. Proteome Res. 14(2), 953-966 (2015
-
(2015)
J. Proteome Res
, vol.14
, Issue.2
, pp. 953-966
-
-
Galligan, J.T.1
Martinez-Noel, G.2
Arndt, V.3
-
46
-
-
84896319380
-
If not Angelman what is it? A review of Angelman-like syndromes
-
Tan WH, Bird LM, Thibert RL, Williams CA. If not Angelman, what is it? A review of Angelman-like syndromes. Am. J. Med Genet. 164A(4), 975-992 (2014
-
(2014)
Am. J. Med Genet. 164A
, vol.4
, pp. 975-992
-
-
Tan, W.H.1
Bird, L.M.2
Thibert, R.L.3
Williams, C.A.4
-
47
-
-
35548945717
-
The overlapping spectrum of rett and angelman syndromes: A clinical review
-
Jedele KB. The overlapping spectrum of rett and angelman syndromes: a clinical review. Sem. Ped. Neurol. 14(3), 108-117 (2007
-
(2007)
Sem. Ped. Neurol
, vol.14
, Issue.3
, pp. 108-117
-
-
Jedele, K.B.1
-
48
-
-
84875153628
-
Neurologic manifestations of Angelman syndrome
-
Thibert RL, Larson AM, Hsieh DT, Raby AR, Thiele EA. Neurologic manifestations of Angelman syndrome. Ped. Neurol. 48(4), 271-279 (2013
-
(2013)
Ped. Neurol
, vol.48
, Issue.4
, pp. 271-279
-
-
Thibert, R.L.1
Larson, A.M.2
Hsieh, D.T.3
Raby, A.R.4
Thiele, E.A.5
-
49
-
-
77955406842
-
Angelman syndrome, a genomic imprinting disorder of the brain
-
Chamberlain SJ, Lalande M. Angelman syndrome, a genomic imprinting disorder of the brain. J. Neurosci. 30(30), 9958-9963 (2010
-
(2010)
J. Neurosci
, vol.30
, Issue.30
, pp. 9958-9963
-
-
Chamberlain, S.J.1
Lalande, M.2
-
50
-
-
84911442598
-
Mutation update for UBE3A variants in Angelman syndrome
-
Sadikovic B, Fernandes P, Zhang VW, et al. Mutation update for UBE3A variants in Angelman syndrome. Hum. Mut. 35(12), 1407-1417 (2014
-
(2014)
Hum. Mut
, vol.35
, Issue.12
, pp. 1407-1417
-
-
Sadikovic, B.1
Fernandes, P.2
Zhang, V.W.3
-
51
-
-
0032939631
-
The spectrum of mutations in UBE3A causing Angelman syndrome
-
Fang P, Lev-Lehman E, Tsai TF, et al. The spectrum of mutations in UBE3A causing Angelman syndrome. Hum. Mol. Genet. 8(1), 129-135 (1999
-
(1999)
Hum. Mol. Genet
, vol.8
, Issue.1
, pp. 129-135
-
-
Fang, P.1
Lev-Lehman, E.2
Tsai, T.F.3
-
52
-
-
84899895541
-
Neurodevelopmental outcome in Angelman syndrome: Genotype-phenotype correlations
-
Mertz LG, Thaulov P, Trillingsgaard A, et al. Neurodevelopmental outcome in Angelman syndrome: genotype-phenotype correlations. Res. Dev. Disabil. 35(7), 1742-1747 (2014
-
(2014)
Res. Dev. Disabil
, vol.35
, Issue.7
, pp. 1742-1747
-
-
Mertz, L.G.1
Thaulov, P.2
Trillingsgaard, A.3
-
53
-
-
33745242295
-
Microarray based comparative genomic hybridization testing in deletion bearing patients with angelman syndrome: Genotype-phenotype correlations
-
Sahoo T, Peters SU, Madduri NS, et al. Microarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype correlations. J. Med. Genet. 43(6), 512-516 (2006
-
(2006)
J. Med. Genet
, vol.43
, Issue.6
, pp. 512-516
-
-
Sahoo, T.1
Peters, S.U.2
Madduri, N.S.3
-
54
-
-
34447319904
-
Evaluation of autism traits in angelman syndrome: A resource to unfold autism genes
-
Bonati MT, Russo S, Finelli P, et al. Evaluation of autism traits in angelman syndrome: a resource to unfold autism genes. Neurogenetics 8(3), 169-178 (2007
-
(2007)
Neurogenetics
, vol.8
, Issue.3
, pp. 169-178
-
-
Bonati, M.T.1
Russo, S.2
Finelli, P.3
-
55
-
-
9444274771
-
Autism in angelman syndrome: Implications for autism research
-
Peters SU, Beaudet AL, Madduri N, Bacino CA. Autism in angelman syndrome: implications for autism research. Clin. Genet. 66(6), 530-536 (2004
-
(2004)
Clin. Genet
, vol.66
, Issue.6
, pp. 530-536
-
-
Peters, S.U.1
Beaudet, A.L.2
Madduri, N.3
Bacino, C.A.4
-
56
-
-
27944452238
-
Angelman syndrome: Uniparental paternal disomy 15 determines mild epilepsy, but has no influence on EEG patterns
-
Valente KD, Fridman C, Varela MC, et al. Angelman syndrome: uniparental paternal disomy 15 determines mild epilepsy, but has no influence on EEG patterns. Epilepsy Res. 67(3), 163-168 (2005
-
(2005)
Epilepsy Res
, vol.67
, Issue.3
, pp. 163-168
-
-
Valente, K.D.1
Fridman, C.2
Varela, M.C.3
-
57
-
-
84878456977
-
Angelman syndrome caused by deletion: A genotype-phenotype correlation determined by breakpoint
-
Valente KD, Varela MC, Koiffmann CP, et al. Angelman syndrome caused by deletion: a genotype-phenotype correlation determined by breakpoint. Epilepsy Res. 105(1-2), 234-239 (2013
-
(2013)
Epilepsy Res
, vol.105
, Issue.1-2
, pp. 234-239
-
-
Valente, K.D.1
Varela, M.C.2
Koiffmann, C.P.3
-
58
-
-
84904862324
-
Eating behavior, prenatal and postnatal growth in angelman syndrome
-
Mertz LG, Christensen R, Vogel I, Hertz JM, Ostergaard JR. Eating behavior, prenatal and postnatal growth in angelman syndrome. Res. Dev. Disabil. 35(11), 2681-2690 (2014
-
(2014)
Res. Dev. Disabil
, vol.35
, Issue.11
, pp. 2681-2690
-
-
Mertz, L.G.1
Christensen, R.2
Vogel, I.3
Hertz, J.M.4
Ostergaard, J.R.5
-
59
-
-
84919836140
-
Increased body mass in infancy and early toddlerhood in angelman syndrome patients with uniparental disomy and imprinting center defects
-
Brennan ML, Adam MP, Seaver LH, et al. Increased body mass in infancy and early toddlerhood in angelman syndrome patients with uniparental disomy and imprinting center defects. Am. J. Med. Genet. Part A 167A(1), 142-146 (2015
-
(2015)
Am. J. Med. Genet. Part A
, vol.167
, Issue.1
, pp. 142-146
-
-
Brennan, M.L.1
Adam, M.P.2
Seaver, L.H.3
-
60
-
-
62149112931
-
Chromosome 15q11-13 duplication syndrome brain reveals epigenetic alterations in gene expression not predicted from copy number
-
Hogart A, Leung KN, Wang NJ, et al. Chromosome 15q11-13 duplication syndrome brain reveals epigenetic alterations in gene expression not predicted from copy number. J. Med. Genet. 46(2), 86-93 (2009
-
(2009)
J. Med. Genet
, vol.46
, Issue.2
, pp. 86-93
-
-
Hogart, A.1
Leung, K.N.2
Wang, N.J.3
-
62
-
-
0032067559
-
An imprinted antisense RNA overlaps UBE3A and a second maternally expressed transcript
-
Rougeulle C, Cardoso C, Fontes M, Colleaux L, Lalande M. An imprinted antisense RNA overlaps UBE3A and a second maternally expressed transcript. Nat. Genet. 19(1), 15-16 (1998
-
(1998)
Nat. Genet
, vol.19
, Issue.1
, pp. 15-16
-
-
Rougeulle, C.1
Cardoso, C.2
Fontes, M.3
Colleaux, L.4
Lalande, M.5
-
63
-
-
0035509699
-
The ic-snurf-snrpn transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for ube3a
-
Runte M, Huttenhofer A, Gross S, Kiefmann M, Horsthemke B, Buiting K. The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A. Hum. Mol. Genet. 10(23), 2687-2700 (2001
-
(2001)
Hum. Mol. Genet
, vol.10
, Issue.23
, pp. 2687-2700
-
-
Runte, M.1
Huttenhofer, A.2
Gross, S.3
Kiefmann, M.4
Horsthemke, B.5
Buiting, K.6
-
64
-
-
0242432463
-
Neurons but not glial cells show reciprocal imprinting of sense and antisense transcripts of ube3a
-
Yamasaki K, Joh K, Ohta T, et al. Neurons but not glial cells show reciprocal imprinting of sense and antisense transcripts of Ube3a. Hum. Mol. Genet. 12(8), 837-847 (2003
-
(2003)
Hum. Mol. Genet
, vol.12
, Issue.8
, pp. 837-847
-
-
Yamasaki, K.1
Joh, K.2
Ohta, T.3
-
65
-
-
84863505435
-
Ube3a-ATS is an atypical RNA polymerase II transcript that represses the paternal expression of Ube3a
-
Meng L, Person RE, Beaud, et al. Ube3a-ATS is an atypical RNA polymerase II transcript that represses the paternal expression of Ube3a. Hum. Mol. Genet. 21(13), 3001-3012 (2012
-
(2012)
Hum. Mol. Genet
, vol.21
, Issue.13
, pp. 3001-3012
-
-
Meng, L.1
Person, R.E.2
Beaud3
-
66
-
-
44349191455
-
Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster
-
Sahoo T, Del Gaudio D, German JR, et al. Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster. Nat. Genet. 40(6), 719-721 (2008
-
(2008)
Nat. Genet
, vol.40
, Issue.6
, pp. 719-721
-
-
Sahoo, T.1
Del Gaudio, D.2
German, J.R.3
-
67
-
-
85027953062
-
Prader-Willi syndrome
-
Cassidy SB, Schwartz S, Miller JL, Driscoll DJ. Prader-Willi syndrome. Genet. Med. 14(1), 10-26 (2012
-
(2012)
Genet. Med
, vol.14
, Issue.1
, pp. 10-26
-
-
Cassidy, S.B.1
Schwartz, S.2
Miller, J.L.3
Driscoll, D.J.4
-
68
-
-
84882781833
-
R-loop formation at Snord116 mediates topotecan inhibition of Ube3a-antisense and allele-specific chromatin decondensation
-
Powell WT, Coulson RL, Gonzales ML, et al. R-loop formation at Snord116 mediates topotecan inhibition of Ube3a-antisense and allele-specific chromatin decondensation. Proc. Natl Acad. Sci. USA 110(34), 13938-13943 (2013
-
(2013)
Proc. Natl Acad. Sci. USA
, vol.110
, Issue.34
, pp. 13938-13943
-
-
Powell, W.T.1
Coulson, R.L.2
Gonzales, M.L.3
-
69
-
-
84882766445
-
A prader-willi locus lncrna cloud modulates diurnal genes and energy expenditure
-
Powell WT, Coulson RL, Crary FK, et al. A Prader-Willi locus lncRNA cloud modulates diurnal genes and energy expenditure. Hum. Mol. Genet. 22(21), 4318-4328 (2013
-
(2013)
Hum. Mol. Genet
, vol.22
, Issue.21
, pp. 4318-4328
-
-
Powell, W.T.1
Coulson, R.L.2
Crary, F.K.3
-
70
-
-
72449205602
-
Long nuclear-retained non-coding RNAs and allele-specific higher-order chromatin organization at imprinted snorna gene arrays
-
Vitali P, Royo H, Marty V, Bortolin-Cavaille ML, Cavaille J. Long nuclear-retained non-coding RNAs and allele-specific higher-order chromatin organization at imprinted snorna gene arrays. J. Cell. Sci. 123(Pt 1), 70-83 (2010
-
(2010)
J. Cell. Sci
, vol.123
, Issue.1
, pp. 70-83
-
-
Vitali, P.1
Royo, H.2
Marty, V.3
Bortolin-Cavaille, M.L.4
Cavaille, J.5
-
71
-
-
84897476311
-
Imprinted expression of UBE3A in non-neuronal cells from a Prader-Willi syndrome patient with an atypical deletion
-
Martins-Taylor K, Hsiao JS, Chen PF, et al. Imprinted expression of UBE3A in non-neuronal cells from a Prader-Willi syndrome patient with an atypical deletion. Hum. Mol. Genet. 23(9), 2364-2373 (2014
-
(2014)
Hum. Mol. Genet
, vol.23
, Issue.9
, pp. 2364-2373
-
-
Martins-Taylor, K.1
Hsiao, J.S.2
Chen, P.F.3
-
72
-
-
0037371674
-
Epimutations in Prader-Willi and Angelman syndromes: A molecular study of 136 patients with an imprinting defect
-
Buiting K, Gross S, Lich C, Gillessen-Kaesbach G, El-Maarri O, Horsthemke B. Epimutations in Prader-Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defect. Am. J. Hum. Genet. 72(3), 571-577 (2003
-
(2003)
Am. J. Hum. Genet
, vol.72
, Issue.3
, pp. 571-577
-
-
Buiting, K.1
Gross, S.2
Lich, C.3
Gillessen-Kaesbach, G.4
El-Maarri, O.5
Horsthemke, B.6
-
73
-
-
84869442612
-
Characterization of DNA methylation errors in patients with imprinting disorders conceived by assisted reproduction technologies
-
Hiura H, Okae H, Miyauchi N, et al. Characterization of DNA methylation errors in patients with imprinting disorders conceived by assisted reproduction technologies. Hum. Reprod. 27(8), 2541-2548 (2012
-
(2012)
Hum. Reprod
, vol.27
, Issue.8
, pp. 2541-2548
-
-
Hiura, H.1
Okae, H.2
Miyauchi, N.3
-
74
-
-
23844547591
-
Epigenetic deregulation of genomic imprinting in human disorders and following assisted reproduction
-
Arnaud P, Feil R. Epigenetic deregulation of genomic imprinting in human disorders and following assisted reproduction. Birth Defects Res. 75(2), 81-97 (2005
-
(2005)
Birth Defects Res
, vol.75
, Issue.2
, pp. 81-97
-
-
Arnaud, P.1
Feil, R.2
-
75
-
-
84876867627
-
Bisphenol a exposure disrupts genomic imprinting in the mouse
-
Susiarjo M, Sasson I, Mesaros C, Bartolomei MS. Bisphenol a exposure disrupts genomic imprinting in the mouse. PLoS Genet. 9(4), e1003401 (2013
-
(2013)
PLoS Genet
, vol.9
, Issue.4
, pp. e1003401
-
-
Susiarjo, M.1
Sasson, I.2
Mesaros, C.3
Bartolomei, M.S.4
-
76
-
-
26644449673
-
Dynamic developmental regulation of the large non-coding RNA associated with the mouse 7C imprinted chromosomal region
-
Le Meur E, Watrin F, Landers M, Sturny R, Lalande M, Muscatelli F. Dynamic developmental regulation of the large non-coding RNA associated with the mouse 7C imprinted chromosomal region. Dev. Biol. 286(2), 587-600 (2005
-
(2005)
Dev. Biol
, vol.286
, Issue.2
, pp. 587-600
-
-
Le Meur, E.1
Watrin, F.2
Landers, M.3
Sturny, R.4
Lalande, M.5
Muscatelli, F.6
-
77
-
-
3042821931
-
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, et al. Regulation of the large (approximately 1000 kb) imprinted murine Ube3a antisense transcript by alternative exons upstream of Snurf/Snrpn. Nucleic Acids Res. 32(11), 3480-3492 (2004
-
(2004)
Nucleic Acids Res
, vol.32
, Issue.11
, pp. 3480-3492
-
-
Landers, M.1
Bancescu, D.L.2
Le Meur, E.3
-
78
-
-
84930627901
-
Angelman syndrome imprinting center encodes a transcriptional promoter
-
Lewis MW, Brant JO, Kramer JM, et al. Angelman syndrome imprinting center encodes a transcriptional promoter. Proc. Natl Acad. Sci. USA 112(22), 6871-6875 (2014
-
(2014)
Proc. Natl Acad. Sci. USA
, vol.112
, Issue.22
, pp. 6871-6875
-
-
Lewis, M.W.1
Brant, J.O.2
Kramer, J.M.3
-
79
-
-
0032192481
-
Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and longterm potentiation
-
Jiang YH, Armstrong D, Albrecht U, et al. Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and longterm potentiation. Neuron 21(4), 799-811 (1998
-
(1998)
Neuron
, vol.21
, Issue.4
, pp. 799-811
-
-
Jiang, Y.H.1
Armstrong, D.2
Albrecht, U.3
-
80
-
-
67349178189
-
Ube3a is required for experience-dependent maturation of the neocortex
-
Yashiro K, Riday TT, Condon KH, et al. Ube3a is required for experience-dependent maturation of the neocortex. Nat. Neurosci. 12(6), 777-783 (2009
-
(2009)
Nat. Neurosci
, vol.12
, Issue.6
, pp. 777-783
-
-
Yashiro, K.1
Riday, T.T.2
Condon, K.H.3
-
81
-
-
0036197031
-
Neurobehavioral and electroencephalographic abnormalities in Ube3a maternaldeficient mice
-
Miura K, Kishino T, Li E, et al. Neurobehavioral and electroencephalographic abnormalities in Ube3a maternaldeficient mice. Neurobiol. Dis. 9(2), 149-159 (2002
-
(2002)
Neurobiol. Dis
, vol.9
, Issue.2
, pp. 149-159
-
-
Miura, K.1
Kishino, T.2
Li, E.3
-
82
-
-
26944487984
-
Sleep disturbances in Ube3a maternal-deficient mice modeling Angelman syndrome
-
Colas D, Wagstaff J, Fort P, Salvert D, Sarda N. Sleep disturbances in Ube3a maternal-deficient mice modeling Angelman syndrome. Neurobiol. Dis. 20(2), 471-478 (2005
-
(2005)
Neurobiol. Dis
, vol.20
, Issue.2
, pp. 471-478
-
-
Colas, D.1
Wagstaff, J.2
Fort, P.3
Salvert, D.4
Sarda, N.5
-
83
-
-
77957914925
-
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, et al. Altered ultrasonic vocalization and impaired learning and memory in Angelman syndrome mouse model with a large maternal deletion from Ube3a to Gabrb3. PLoS ONE 5(8), e12278 (2010
-
(2010)
Plos One
, vol.5
, Issue.8
, pp. e12278
-
-
Jiang, Y.H.1
Pan, Y.2
Zhu, L.3
-
84
-
-
0033529801
-
A transgene insertion creating a heritable chromosome deletion mouse model of Prader-Willi and Angelman syndromes
-
Gabriel JM, Merchant M, Ohta T, et al. A transgene insertion creating a heritable chromosome deletion mouse model of Prader-Willi and Angelman syndromes. Proc. Natl Acad. Sci. USA 96(16), 9258-9263 (1999
-
(1999)
Proc. Natl Acad. Sci. USA
, vol.96
, Issue.16
, pp. 9258-9263
-
-
Gabriel, J.M.1
Merchant, M.2
Ohta, T.3
-
85
-
-
32344448677
-
Mouse imprinting defect mutations that model Angelman syndrome
-
Wu MY, Chen KS, Bressler J, et al. Mouse imprinting defect mutations that model Angelman syndrome. Genesis 44(1), 12-22 (2006
-
(2006)
Genesis
, vol.44
, Issue.1
, pp. 12-22
-
-
Wu, M.Y.1
Chen, K.S.2
Bressler, J.3
-
86
-
-
78049303170
-
Induced pluripotent stem cell models of the genomic imprinting disorders angelman and prader-willi syndromes
-
Chamberlain SJ, Chen PF, Ng KY, et al. Induced pluripotent stem cell models of the genomic imprinting disorders Angelman and Prader-Willi syndromes. Proc. Natl Acad. Sci. USA 107(41), 17668-17673 (2010
-
(2010)
Proc. Natl Acad. Sci. USA
, vol.107
, Issue.41
, pp. 17668-17673
-
-
Chamberlain, S.J.1
Chen, P.F.2
Ng, K.Y.3
-
87
-
-
84855807682
-
Topoisomerase inhibitors unsilence the dormant allele of Ube3a in neurons
-
Huang HS, Allen JA, Mabb AM, et al. Topoisomerase inhibitors unsilence the dormant allele of Ube3a in neurons. Nature 481(7380), 185-189 (2012
-
(2012)
Nature
, vol.481
, Issue.7380
, pp. 185-189
-
-
Huang, H.S.1
Allen, J.A.2
Mabb, A.M.3
-
88
-
-
84883740518
-
Topoisomerases facilitate transcription of long genes linked to autism
-
King IF, Yandava CN, Mabb AM, et al. Topoisomerases facilitate transcription of long genes linked to autism. Nature 501(7465), 58-62 (2013
-
(2013)
Nature
, vol.501
, Issue.7465
, pp. 58-62
-
-
King, I.F.1
Yandava, C.N.2
Mabb, A.M.3
-
89
-
-
84914141242
-
Topoisomerase 1 inhibition reversibly impairs synaptic function
-
Mabb AM, Kullmann PH, Twomey MA, Miriyala J, Philpot BD, Zylka MJ. Topoisomerase 1 inhibition reversibly impairs synaptic function. Proc. Natl Acad. Sci. USA 111(48), 17290-17295 (2014
-
(2014)
Proc. Natl Acad. Sci. USA
, vol.111
, Issue.48
, pp. 17290-17295
-
-
Mabb, A.M.1
Kullmann, P.H.2
Twomey, M.A.3
Miriyala, J.4
Philpot, B.D.5
Zylka, M.J.6
-
90
-
-
84925227935
-
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. Towards a therapy for Angelman syndrome by targeting a long non-coding RNA. Nature 518(7539), 409-412 (2015
-
(2015)
Nature
, vol.518
, Issue.7539
, pp. 409-412
-
-
Meng, L.1
Ward, A.J.2
Chun, S.3
Bennett, C.F.4
Beaudet, A.L.5
Rigo, F.6
-
91
-
-
84929018021
-
Ube3a reinstatement identifies distinct developmental windows in a murine angelman syndrome model
-
Silva-Santos S, Van Woerden GM, Bruinsma CF, et al. Ube3a reinstatement identifies distinct developmental windows in a murine angelman syndrome model. J. Clin. Invest. 125(5), 2069-2076 (2015
-
(2015)
J. Clin. Invest
, vol.125
, Issue.5
, pp. 2069-2076
-
-
Silva-Santos, S.1
Van Woerden, G.M.2
Bruinsma, C.F.3
-
92
-
-
84928242152
-
Seizure-like activity in a juvenile angelman syndrome mouse model is attenuated by reducing arc expression
-
Mandel-Brehm C, Salogiannis J, Dhamne SC, Rotenberg A, Greenberg ME. Seizure-like activity in a juvenile angelman syndrome mouse model is attenuated by reducing arc expression. Proc. Natl Acad. Sci. USA 112(16), 5129-5134 (2015
-
(2015)
Proc. Natl Acad. Sci. USA
, vol.112
, Issue.16
, pp. 5129-5134
-
-
Mandel-Brehm, C.1
Salogiannis, J.2
Dhamne, S.C.3
Rotenberg, A.4
Greenberg, M.E.5
-
93
-
-
77951206469
-
The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13
-
Hogart A, Wu D, Lasalle JM, Schanen NC. The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13. Neurobiol. Dis. 38(2), 181-191 (2010
-
(2010)
Neurobiol. Dis
, vol.38
, Issue.2
, pp. 181-191
-
-
Hogart, A.1
Wu, D.2
Lasalle, J.M.3
Schanen, N.C.4
-
94
-
-
84882269902
-
The interstitial duplication 15q11.2-q13 syndrome includes autism, mild facial anomalies and a characteristic EEG signature
-
Urraca N, Cleary J, Brewer V, et al. The interstitial duplication 15q11.2-q13 syndrome includes autism, mild facial anomalies and a characteristic EEG signature. Autism Res. 6(4), 268-279. (2013
-
(2013)
Autism Res
, vol.6
, Issue.4
, pp. 268-279
-
-
Urraca, N.1
Cleary, J.2
Brewer, V.3
-
95
-
-
39749145715
-
Multiple forms of atypical rearrangements generating supernumerary derivative chromosome 15
-
Wang NJ, Parokonny AS, Thatcher KN, et al. Multiple forms of atypical rearrangements generating supernumerary derivative chromosome 15. BMC Genet. 9, 2 (2008
-
(2008)
BMC Genet
, vol.9
, pp. 2
-
-
Wang, N.J.1
Parokonny, A.S.2
Thatcher, K.N.3
-
96
-
-
58149237890
-
The inv dup 15) or idic 15) syndrome (tetrasomy 15q
-
Battaglia A. The inv dup (15) or idic (15) syndrome (tetrasomy 15q). Orphanet. J. Rare Dis. 3, 30 (2008
-
(2008)
Orphanet. J. Rare Dis
, vol.3
, pp. 30
-
-
Battaglia, A.1
-
97
-
-
84896323149
-
A survey of seizures and current treatments in 15q duplication syndrome
-
Conant KD, Finucane B, Cleary N, et al. A survey of seizures and current treatments in 15q duplication syndrome. Epilepsia 55(3), 396-402 (2014
-
(2014)
Epilepsia
, vol.55
, Issue.3
, pp. 396-402
-
-
Conant, K.D.1
Finucane, B.2
Cleary, N.3
-
98
-
-
84931569823
-
15q11.2 duplication encompassing only the Ube3a gene is associated with developmental delay and neuropsychiatric phenotypes
-
Noor A, Dupuis L, Mittal K, et al. 15q11.2 duplication encompassing only the Ube3a gene is associated with developmental delay and neuropsychiatric phenotypes. Hum. Mut. 36(7), 689-693 (2015
-
(2015)
Hum. Mut
, vol.36
, Issue.7
, pp. 689-693
-
-
Noor, A.1
Dupuis, L.2
Mittal, K.3
-
99
-
-
16944364326
-
Autism or atypical autism in maternally but not paternally derived proximal 15q duplication
-
Cook EH Jr., Lindgren V, Leventhal BL, et al. Autism or atypical autism in maternally but not paternally derived proximal 15q duplication. Am. J. Hum. Genet. 60(4), 928-934 (1997
-
(1997)
Am. J. Hum. Genet
, vol.60
, Issue.4
, pp. 928-934
-
-
Cook, E.H.1
Lindgren, V.2
Leventhal, B.L.3
-
100
-
-
84892532406
-
Duplication of the 15q11-q13 region: Clinical and genetic study of 30 new cases
-
Al Ageeli E, Drunat S, Delanoe C, et al. Duplication of the 15q11-q13 region: clinical and genetic study of 30 new cases. Eur. J. Med. Genet. 57(1), 5-14 (2014
-
(2014)
Eur. J. Med. Genet
, vol.57
, Issue.1
, pp. 5-14
-
-
Al Ageeli, E.1
Drunat, S.2
Delanoe, C.3
-
101
-
-
84905901105
-
Autism spectrum disorders and hyperactive/impulsive behaviors in Japanese patients with prader-willi syndrome: A comparison between maternal uniparental disomy and deletion cases
-
Ogata H, Ihara H, Murakami N, Gito M, Kido Y, Nagai T. Autism spectrum disorders and hyperactive/impulsive behaviors in japanese patients with Prader-Willi syndrome: a comparison between maternal uniparental disomy and deletion cases. Am. J. Med. Genet. A 164A(9), 2180-2186 (2014
-
(2014)
Am. J. Med. Genet. A
, vol.164
, Issue.9
, pp. 2180-2186
-
-
Ogata, H.1
Ihara, H.2
Murakami, N.3
Gito, M.4
Kido, Y.5
Nagai, T.6
-
102
-
-
80052376047
-
Prader-Willi syndrome and autism spectrum disorders: An evolving story
-
Dykens EM, Lee E, Roof E. Prader-Willi syndrome and autism spectrum disorders: an evolving story. J. Neurodev. Disord. 3(3), 225-237 (2011
-
(2011)
J. Neurodev. Disord
, vol.3
, Issue.3
, pp. 225-237
-
-
Dykens, E.M.1
Lee, E.2
Roof, E.3
-
103
-
-
80053626726
-
Increased gene dosage of Ube3a results in autism traits and decreased glutamate synaptic transmission in mice
-
103ra197
-
Smith SE, Zhou YD, Zhang G, Jin Z, Stoppel DC, Anderson MP. Increased gene dosage of Ube3a results in autism traits and decreased glutamate synaptic transmission in mice. Sci. Transl. Med. 3(103), 103ra197 (2011
-
(2011)
Sci. Transl. Med
, vol.3
, Issue.103
-
-
Smith, S.E.1
Zhou, Y.D.2
Zhang, G.3
Jin, Z.4
Stoppel, D.C.5
Anderson, M.P.6
-
104
-
-
2442536052
-
The-4 phenylalanine is required for substrate ubiquitination catalyzed by HECT ubiquitin ligases
-
Salvat C, Wang G, Dastur A, Lyon N, Huibregtse JM. The-4 phenylalanine is required for substrate ubiquitination catalyzed by HECT ubiquitin ligases. J. Biol. Chem. 279(18), 18935-18943 (2004
-
(2004)
J. Biol. Chem
, vol.279
, Issue.18
, pp. 18935-18943
-
-
Salvat, C.1
Wang, G.2
Dastur, A.3
Lyon, N.4
Huibregtse, J.M.5
-
105
-
-
84878464396
-
Role of the ubiquitin ligase E6AP/Ube3a in controlling levels of the synaptic protein arc
-
Kuhnle S, Mothes B, Matentzoglu K, Scheffner M. Role of the ubiquitin ligase E6AP/Ube3a in controlling levels of the synaptic protein arc. Proc. Natl Acad. Sci. USA 110(22), 8888-8893 (2013
-
(2013)
Proc. Natl Acad. Sci. USA
, vol.110
, Issue.22
, pp. 8888-8893
-
-
Kuhnle, S.1
Mothes, B.2
Matentzoglu, K.3
Scheffner, M.4
-
106
-
-
67549083336
-
Abnormal behavior in a chromosome-engineered mouse model for human 15q11-13 duplication seen in autism
-
Nakatani J, Tamada K, Hatanaka F, et al. Abnormal behavior in a chromosome-engineered mouse model for human 15q11-13 duplication seen in autism. Cell 137(7), 1235-1246 (2009
-
(2009)
Cell
, vol.137
, Issue.7
, pp. 1235-1246
-
-
Nakatani, J.1
Tamada, K.2
Hatanaka, F.3
-
107
-
-
80052783934
-
Neuronspecific impairment of inter-chromosomal pairing and transcription in a novel model of human 15q-duplication syndrome
-
Meguro-Horike M, Yasui DH, Powell W, et al. Neuronspecific impairment of inter-chromosomal pairing and transcription in a novel model of human 15q-duplication syndrome. Hum. Mol. Genet. 20(19), 3798-3810 (2011
-
(2011)
Hum. Mol. Genet
, vol.20
, Issue.19
, pp. 3798-3810
-
-
Meguro-Horike, M.1
Yasui, D.H.2
Powell, W.3
-
108
-
-
84924721164
-
Phenotypic differences in hiPSC NPCs derived from patients with schizophrenia
-
Brennand K, Savas JN, Kim Y, et al. Phenotypic differences in hiPSC NPCs derived from patients with schizophrenia. Mol. Psych. 20(3), 361-368 (2014
-
(2014)
Mol. Psych
, vol.20
, Issue.3
, pp. 361-368
-
-
Brennand, K.1
Savas, J.N.2
Kim, Y.3
-
109
-
-
84860475483
-
Abnormal intracellular accumulation and extracellular abeta deposition in idiopathic and Dup15q11.2-q13 autism spectrum disorders
-
Wegiel J, Frackowiak J, Mazur-Kolecka B, et al. Abnormal intracellular accumulation and extracellular abeta deposition in idiopathic and Dup15q11.2-q13 autism spectrum disorders. PLoS ONE 7(5), e35414 (2012
-
(2012)
Plos One
, vol.7
, Issue.5
, pp. e35414
-
-
Wegiel, J.1
Frackowiak, J.2
Mazur-Kolecka, B.3
-
110
-
-
79959262465
-
Transcriptomic analysis of autistic brain reveals convergent molecular pathology
-
Voineagu I, Wang X, Johnston P, et al. Transcriptomic analysis of autistic brain reveals convergent molecular pathology. Nature 474(7351), 380-384 (2011
-
(2011)
Nature
, vol.474
, Issue.7351
, pp. 380-384
-
-
Voineagu, I.1
Wang, X.2
Johnston, P.3
-
111
-
-
80054957569
-
15q11.2-13.3 chromatin analysis reveals epigenetic regulation of CHRNA7 with deficiencies in Rett and autism brain
-
Yasui DH, Scoles HA, Horike S, et al. 15q11.2-13.3 chromatin analysis reveals epigenetic regulation of CHRNA7 with deficiencies in Rett and autism brain. Hum. Mol. Genet. 20(22), 4311-4323 (2011
-
(2011)
Hum. Mol. Genet
, vol.20
, Issue.22
, pp. 4311-4323
-
-
Yasui, D.H.1
Scoles, H.A.2
Horike, S.3
-
112
-
-
84873058197
-
Mutation of HERC2 causes developmental delay with Angelman-like features
-
Harlalka GV, Baple EL, Cross H, et al. Mutation of HERC2 causes developmental delay with Angelman-like features. J. Med. Genet. 50(2), 65-73 (2013
-
(2013)
J. Med. Genet
, vol.50
, Issue.2
, pp. 65-73
-
-
Harlalka, G.V.1
Baple, E.L.2
Cross, H.3
|