-
1
-
-
0030879482
-
Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons
-
Albrecht, U., Sutcliffe, J. S., Cattanach, B. M., Beechey, C. V., Armstrong, D., Eichele, G., et al. (1997). Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons. Nat. Genet. 17, 75-78. doi: 10.1038/ng0997-75
-
(1997)
Nat. Genet
, vol.17
, pp. 75-78
-
-
Albrecht, U.1
Sutcliffe, J.S.2
Cattanach, B.M.3
Beechey, C.V.4
Armstrong, D.5
Eichele, G.6
-
2
-
-
84901292089
-
Angelman syndrome: review of clinical and molecular aspects
-
Bird, L. M. (2014). Angelman syndrome: review of clinical and molecular aspects. Appl. Clin. Genet. 7, 93-104. doi: 10.2147/TACG.S57386
-
(2014)
Appl. Clin. Genet
, vol.7
, pp. 93-104
-
-
Bird, L.M.1
-
3
-
-
67651213461
-
Genes related to sex steroids, neural growth, and social-emotional behavior are associated with autistic traits, empathy, and Asperger syndrome
-
Chakrabarti, B., Dudbridge, F., Kent, L., Wheelwright, S., Hill-Cawthorne, G., Allison, C., et al. (2009). Genes related to sex steroids, neural growth, and social-emotional behavior are associated with autistic traits, empathy, and Asperger syndrome. Autism Res. 2, 157-177. doi: 10.1002/aur.80
-
(2009)
Autism Res
, vol.2
, pp. 157-177
-
-
Chakrabarti, B.1
Dudbridge, F.2
Kent, L.3
Wheelwright, S.4
Hill-Cawthorne, G.5
Allison, C.6
-
4
-
-
0032539909
-
The ubiquitin-proteasome pathway: the complexity and myriad functions of proteins death
-
Ciechanover, A., and Schwartz, A. L. (1998). The ubiquitin-proteasome pathway: the complexity and myriad functions of proteins death. Proc. Natl. Acad. Sci. U.S.A. 95, 2727-2730. doi: 10.1073/pnas.95.6.2727
-
(1998)
Proc. Natl. Acad. Sci. U.S.A
, vol.95
, pp. 2727-2730
-
-
Ciechanover, A.1
Schwartz, A.L.2
-
5
-
-
16944364326
-
Autism or atypical autism in maternally but not paternally derived proximal 15q duplication
-
Cook, E. H. Jr., Lindgren, V., Leventhal, B. L., Courchesne, R., Lincoln, A., Shulman, C., et al. (1997). Autism or atypical autism in maternally but not paternally derived proximal 15q duplication. Am. J. Hum. Genet. 60, 928-934
-
(1997)
Am. J. Hum. Genet
, vol.60
, pp. 928-934
-
-
Cook, E.H.1
Lindgren, V.2
Leventhal, B.L.3
Courchesne, R.4
Lincoln, A.5
Shulman, C.6
-
6
-
-
4644295494
-
Biochemical analysis of Angelman syndrome-associated mutations in the E3 ubiquitin ligase E6-associated protein
-
Cooper, E. M., Hudson, A. W., Amos, J., Wagstaff, J., and Howley, P. M. (2004). Biochemical analysis of Angelman syndrome-associated mutations in the E3 ubiquitin ligase E6-associated protein. J. Biol. Chem. 279, 41208-41217. doi: 10.1074/jbc.M401302200
-
(2004)
J. Biol. Chem
, vol.279
, pp. 41208-41217
-
-
Cooper, E.M.1
Hudson, A.W.2
Amos, J.3
Wagstaff, J.4
Howley, P.M.5
-
7
-
-
84899476399
-
Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders
-
Correia, C. T., Conceição, I. C., Oliveira, B., Coelho, J., Sousa, I., Sequeira, A. F., et al. (2014). Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders. Mol. Autism 5:28. doi: 10.1186/2040-2392-5-28
-
(2014)
Mol. Autism
, vol.5
, pp. 28
-
-
Correia, C.T.1
Conceição, I.C.2
Oliveira, B.3
Coelho, J.4
Sousa, I.5
Sequeira, A.F.6
-
8
-
-
37549057995
-
The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology
-
Dindot, S. V., Antalffy, B. A., Bhattacharjee, M. B., and Beaudet, A. L. (2008). The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology. Hum. Mol. Genet. 17, 111-118. doi: 10.1093/hmg/ddm288
-
(2008)
Hum. Mol. Genet
, vol.17
, pp. 111-118
-
-
Dindot, S.V.1
Antalffy, B.A.2
Bhattacharjee, M.B.3
Beaudet, A.L.4
-
9
-
-
37049032616
-
Correction of fragile X syndrome in mice
-
Dölen, G., Osterweil, E., Rao, B. S., Smith, G. B., Auerbach, B. D., Chattarji, S., et al. (2007). Correction of fragile X syndrome in mice. Neuron 56, 955-962. doi: 10.1016/j.neuron.2007.12.001
-
(2007)
Neuron
, vol.56
, pp. 955-962
-
-
Dölen, G.1
Osterweil, E.2
Rao, B.S.3
Smith, G.B.4
Auerbach, B.D.5
Chattarji, S.6
-
10
-
-
84870717922
-
Decreased tonic inhibition in cerebellar granule cells causes motor dysfunction in a mouse model of Angelman syndrome
-
Egawa, K., Kitagawa, K., Inoue, K., Takayama, M., Takayama, C., Saitoh, S., et al. (2012). Decreased tonic inhibition in cerebellar granule cells causes motor dysfunction in a mouse model of Angelman syndrome. Sci. Transl. Med. 4, 163ra157. doi: 10.1126/scitranslmed.3004655
-
(2012)
Sci. Transl. Med
, vol.4
-
-
Egawa, K.1
Kitagawa, K.2
Inoue, K.3
Takayama, M.4
Takayama, C.5
Saitoh, S.6
-
11
-
-
84894246145
-
Activity-dependent changes in MAPK activation in the Angelman Syndrome mouse model
-
Filonova, I., Trotter, J. H., Banko, J. L., and Weeber, E. J. (2014). Activity-dependent changes in MAPK activation in the Angelman Syndrome mouse model. Learn. Mem. 21, 98-104. doi: 10.1101/lm.032375.113
-
(2014)
Learn. Mem
, vol.21
, pp. 98-104
-
-
Filonova, I.1
Trotter, J.H.2
Banko, J.L.3
Weeber, E.J.4
-
12
-
-
84882960508
-
Knockdown of human TCF4 affects multiple signaling pathways involved in cell survival, epithelial to mesenchymal transition and neuronal differentiation
-
Forrest, M. P., Waite, A. J., Martin-Rendon, E., and Blake, D. J. (2013). Knockdown of human TCF4 affects multiple signaling pathways involved in cell survival, epithelial to mesenchymal transition and neuronal differentiation. PLoS ONE 8:e73169. doi: 10.1371/journal.pone.0073169
-
(2013)
PLoS ONE
, vol.8
-
-
Forrest, M.P.1
Waite, A.J.2
Martin-Rendon, E.3
Blake, D.J.4
-
13
-
-
77957374544
-
A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations
-
Gentile, J. K., Tan, W. H., Horowitz, L. T., Bacino, C. A., Skinner, S. A., Barbieri-Welge, R., et al. (2010). A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations. J. Dev. Behav. Pediatr. 31, 592-601. doi: 10.1097/dbp.0b013e3181ee408e
-
(2010)
J. Dev. Behav. Pediatr
, vol.31
, pp. 592-601
-
-
Gentile, J.K.1
Tan, W.H.2
Horowitz, L.T.3
Bacino, C.A.4
Skinner, S.A.5
Barbieri-Welge, R.6
-
14
-
-
77649083119
-
The Angelman Syndrome protein Ube3A regulates synapse development by ubiquitinating arc
-
Greer, P. L., Hanayama, R., Bloodgood, B. L., Mardinly, A. R., Lipton, D. M., Flavell, S. W., et al. (2010). The Angelman Syndrome protein Ube3A regulates synapse development by ubiquitinating arc. Cell 140, 704-716. doi: 10.1016/j.cell.2010.01.026
-
(2010)
Cell
, vol.140
, pp. 704-716
-
-
Greer, P.L.1
Hanayama, R.2
Bloodgood, B.L.3
Mardinly, A.R.4
Lipton, D.M.5
Flavell, S.W.6
-
15
-
-
84878148924
-
Deficiency of the cyclin-dependent kinase inhibitor, CDKN1B, results in overgrowth and neurodevelopmental delay
-
Grey, W., Izatt, L., Sahraoui, W., Ng, Y. M., Ogilvie, C., Hulse, A., et al. (2013). Deficiency of the cyclin-dependent kinase inhibitor, CDKN1B, results in overgrowth and neurodevelopmental delay. Hum. Mutat. 34, 864-868. doi: 10.1002/humu.22314
-
(2013)
Hum. Mutat
, vol.34
, pp. 864-868
-
-
Grey, W.1
Izatt, L.2
Sahraoui, W.3
Ng, Y.M.4
Ogilvie, C.5
Hulse, A.6
-
16
-
-
77954957575
-
Tissue-specific variation of Ube3a protein expression in rodents and in a mouse model of Angelman syndrome
-
Gustin, R. M., Bichell, T. J., Bubser, M., Daily, J., Filonova, I., Mrelashvili, D., et al. (2010). Tissue-specific variation of Ube3a protein expression in rodents and in a mouse model of Angelman syndrome. Neurobiol. Dis. 39, 283-291. doi: 10.1016/j.nbd.2010.04.012
-
(2010)
Neurobiol. Dis
, vol.39
, pp. 283-291
-
-
Gustin, R.M.1
Bichell, T.J.2
Bubser, M.3
Daily, J.4
Filonova, I.5
Mrelashvili, D.6
-
17
-
-
84873058197
-
Mutation of HERC2 causes developmental delay with Angelman-like features
-
Harlalka, G. V., Baple, E. L., Cross, H., Kühnle, S., Cubillos-Rojas, M., Matentzoglu, K., et al. (2013). Mutation of HERC2 causes developmental delay with Angelman-like features. J. Med. Genet. 50, 65-73. doi: 10.1136/jmedgenet-2012-101367
-
(2013)
J. Med. Genet
, vol.50
, pp. 65-73
-
-
Harlalka, G.V.1
Baple, E.L.2
Cross, H.3
Kühnle, S.4
Cubillos-Rojas, M.5
Matentzoglu, K.6
-
18
-
-
64449087475
-
Possible association between the androgen receptor gene and autism spectrum disorder
-
Henningsson, S., Jonsson, L., Ljunggren, E., Westberg, L., Gillberg, C., Råstam, M., et al. (2009). Possible association between the androgen receptor gene and autism spectrum disorder. Psychoneuroendocrinology 34, 752-761. doi: 10.1016/j.psyneuen.2008.12.007
-
(2009)
Psychoneuroendocrinology
, vol.34
, pp. 752-761
-
-
Henningsson, S.1
Jonsson, L.2
Ljunggren, E.3
Westberg, L.4
Gillberg, C.5
Råstam, M.6
-
19
-
-
84855807682
-
Topoisomerase inhibitors unsilence the dormant allele of Ube3a in neurons
-
Huang, H. S., Allen, J. A., Mabb, A. M., King, I. F., Miriyala, J., Taylor-Blake, B., et al. (2012). Topoisomerase inhibitors unsilence the dormant allele of Ube3a in neurons. Nature 481, 185-189. doi: 10.1038/nature10726
-
(2012)
Nature
, vol.481
, pp. 185-189
-
-
Huang, H.S.1
Allen, J.A.2
Mabb, A.M.3
King, I.F.4
Miriyala, J.5
Taylor-Blake, B.6
-
20
-
-
0032741446
-
Structure of an E6AP-UbcH7 complex: insights into ubiquitination by the E2-E3 enzyme cascade
-
Huang, L., Kinnucan, E., Wang, G., Beaudenon, S., Howley, P. M., Huibregtse, J. M., et al. (1999). Structure of an E6AP-UbcH7 complex: insights into ubiquitination by the E2-E3 enzyme cascade. Science 286, 1321-1326. doi: 10.1126/science.286.5443.1321
-
(1999)
Science
, vol.286
, pp. 1321-1326
-
-
Huang, L.1
Kinnucan, E.2
Wang, G.3
Beaudenon, S.4
Howley, P.M.5
Huibregtse, J.M.6
-
21
-
-
84876520352
-
Proteomic profiling in Drosophila reveals potential Dube3a regulation of the actin cytoskeleton and neuronal homeostasis
-
Jensen, L., Farook, M. F., and Reiter, L. T. (2013). Proteomic profiling in Drosophila reveals potential Dube3a regulation of the actin cytoskeleton and neuronal homeostasis. PLoS ONE 8:e61952. doi: 10.1371/journal.pone.0061952
-
(2013)
PLoS ONE
, vol.8
-
-
Jensen, L.1
Farook, M.F.2
Reiter, L.T.3
-
22
-
-
0032192481
-
Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation
-
Jiang, Y. H., Armstrong, D., Albrecht, U., Atkins, C. M., Noebels, J. L., Eichele, G., et al. (1998). 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. doi: 10.1016/S0896-6273(00)80596-6
-
(1998)
Neuron
, vol.21
, pp. 799-811
-
-
Jiang, Y.H.1
Armstrong, D.2
Albrecht, U.3
Atkins, C.M.4
Noebels, J.L.5
Eichele, G.6
-
23
-
-
84897384178
-
Allelic specificity of Ube3a expression in the mouse brain during postnatal development
-
Judson, M. C., Sosa-Pagan, J. O., Del Cid, W. A., Han, J. E., and Philpot, B. D. (2014). Allelic specificity of Ube3a expression in the mouse brain during postnatal development. J. Comp. Neurol. 522, 1874-1896. doi: 10.1002/cne.23507
-
(2014)
J. Comp. Neurol
, vol.522
, pp. 1874-1896
-
-
Judson, M.C.1
Sosa-Pagan, J.O.2
Del Cid, W.A.3
Han, J.E.4
Philpot, B.D.5
-
24
-
-
82555169392
-
Alterations in intrinsic membrane properties and the axon initial segment in a mouse model of Angelman syndrome
-
Kaphzan, H., Buffington, S. A., Jung, J. I., Rasband, M. N., and Klann, E. (2011). Alterations in intrinsic membrane properties and the axon initial segment in a mouse model of Angelman syndrome. J. Neurosci. 31, 17637-17648. doi: 10.1523/JNEUROSCI.4162-11.2011
-
(2011)
J. Neurosci
, vol.31
, pp. 17637-17648
-
-
Kaphzan, H.1
Buffington, S.A.2
Jung, J.I.3
Rasband, M.N.4
Klann, E.5
-
25
-
-
84881615694
-
Genetic reduction of the alpha1 subunit of Na/K-ATPase corrects multiple hippocampal phenotypes in Angelman syndrome
-
Kaphzan, H., Buffington, S. A., Ramaraj, A. B., Lingrel, J. B., Rasband, M. N., Santini, E., et al. (2013). Genetic reduction of the alpha1 subunit of Na/K-ATPase corrects multiple hippocampal phenotypes in Angelman syndrome. Cell Rep. 4, 405-412. doi: 10.1016/j.celrep.2013.07.005
-
(2013)
Cell Rep
, vol.4
, pp. 405-412
-
-
Kaphzan, H.1
Buffington, S.A.2
Ramaraj, A.B.3
Lingrel, J.B.4
Rasband, M.N.5
Santini, E.6
-
26
-
-
33344469819
-
Multifunction steroid receptor coactivator, E6-associated protein, is involved in development of the prostate gland
-
Khan, O. Y., Fu, G., Ismail, A., Srinivasan, S., Cao, X., Tu, Y., et al. (2006). Multifunction steroid receptor coactivator, E6-associated protein, is involved in development of the prostate gland. Mol. Endocrinol. 20, 544-559. doi: 10.1210/me.2005-0110
-
(2006)
Mol. Endocrinol
, vol.20
, pp. 544-559
-
-
Khan, O.Y.1
Fu, G.2
Ismail, A.3
Srinivasan, S.4
Cao, X.5
Tu, Y.6
-
27
-
-
84883740518
-
Topoisomerases facilitate transcription of long genes linked to autism
-
King, I. F., Yandava, C. N., Mabb, A. M., Hsiao, J. S., Huang, H. S., Pearson, B. L., et al. (2013). Topoisomerases facilitate transcription of long genes linked to autism. Nature 501, 58-62. doi: 10.1038/nature12504
-
(2013)
Nature
, vol.501
, pp. 58-62
-
-
King, I.F.1
Yandava, C.N.2
Mabb, A.M.3
Hsiao, J.S.4
Huang, H.S.5
Pearson, B.L.6
-
28
-
-
0031012849
-
UBE3A/E6-AP mutations cause Angelman syndrome
-
Kishino, T., Lalande, M., and Wagstaff, J. (1997). UBE3A/E6-AP mutations cause Angelman syndrome. Nat. Genet. 15, 70-73. doi: 10.1038/ng0197-70
-
(1997)
Nat. Genet
, vol.15
, pp. 70-73
-
-
Kishino, T.1
Lalande, M.2
Wagstaff, J.3
-
29
-
-
84894385866
-
Rare single nucleotide polymorphisms in the regulatory regions of the superoxide dismutase genes in autism spectrum disorder
-
Kovac, J., Macedoni Lukšič, M., Trebušak Podkrajšek, K., Klančar, G., and Battelino, T. (2014). Rare single nucleotide polymorphisms in the regulatory regions of the superoxide dismutase genes in autism spectrum disorder. Autism Res. 7, 138-144. doi: 10.1002/aur.1345
-
(2014)
Autism Res
, vol.7
, pp. 138-144
-
-
Kovac, J.1
Macedoni Lukšič, M.2
Trebušak Podkrajšek, K.3
Klančar, G.4
Battelino, T.5
-
30
-
-
79957613292
-
Physical and functional interaction of the HECT ubiquitin-protein ligases E6AP and HERC2
-
Kühnle, S., Kogel, U., Glockzin, S., Marquardt, A., Ciechanover, A., Matentzoglu, K., et al. (2011). Physical and functional interaction of the HECT ubiquitin-protein ligases E6AP and HERC2. J. Biol. Chem. 286, 19410-19416. doi: 10.1074/jbc.M110.205211
-
(2011)
J. Biol. Chem
, vol.286
, pp. 19410-19416
-
-
Kühnle, S.1
Kogel, U.2
Glockzin, S.3
Marquardt, A.4
Ciechanover, A.5
Matentzoglu, K.6
-
31
-
-
84878464396
-
Role of the ubiquitin ligase E6AP/UBE3A in controlling levels of the synaptic protein Arc
-
Kühnle, S., Mothes, B., Matentzoglu, K., and Scheffner, M. (2013). Role of the ubiquitin ligase E6AP/UBE3A in controlling levels of the synaptic protein Arc. Proc. Natl. Acad. Sci. U.S.A. 110, 8888-8893. doi: 10.1073/pnas.1302792110
-
(2013)
Proc. Natl. Acad. Sci. U.S.A
, vol.110
, pp. 8888-8893
-
-
Kühnle, S.1
Mothes, B.2
Matentzoglu, K.3
Scheffner, M.4
-
32
-
-
84921626820
-
Integrated systems analysis reveals a molecular network underlying autism spectrum disorders
-
Li, J., Shi, M., Ma, Z., Zhao, S., Euskirchen, G., Ziskin, J., et al. (2014). Integrated systems analysis reveals a molecular network underlying autism spectrum disorders. Mol. Syst. Biol. 10, 774. doi: 10.15252/msb.20145487
-
(2014)
Mol. Syst. Biol
, vol.10
, pp. 774
-
-
Li, J.1
Shi, M.2
Ma, Z.3
Zhao, S.4
Euskirchen, G.5
Ziskin, J.6
-
33
-
-
84902455651
-
Triad3A regulates synaptic strength by ubiquitination of Arc
-
Mabb, A. M., Je, H. S., Wall, M. J., Robinson, C. G., Larsen, R. S., Qiang, Y., et al. (2014). Triad3A regulates synaptic strength by ubiquitination of Arc. Neuron 82, 1299-1316. doi: 10.1016/j.neuron.2014.05.016
-
(2014)
Neuron
, vol.82
, pp. 1299-1316
-
-
Mabb, A.M.1
Je, H.S.2
Wall, M.J.3
Robinson, C.G.4
Larsen, R.S.5
Qiang, Y.6
-
34
-
-
84928242152
-
Seizure-like activity in a juvenile Angelman syndrome mouse model is attenuated by reducing Arc expression
-
Mandel-Brehm, C., Salogiannis, J., Dhamne, S. C., Rotenberg, A., and Greenberg, M. E. (2015). Seizure-like activity in a juvenile Angelman syndrome mouse model is attenuated by reducing Arc expression. Proc. Natl. Acad. Sci. U.S.A. 112, 5129-5134. doi: 10.1073/pnas.1504809112
-
(2015)
Proc. Natl. Acad. Sci. U.S.A
, vol.112
, pp. 5129-5134
-
-
Mandel-Brehm, C.1
Salogiannis, J.2
Dhamne, S.C.3
Rotenberg, A.4
Greenberg, M.E.5
-
35
-
-
77958487953
-
EphB-mediated degradation of the RhoA GEF Ephexin5 relieves a developmental brake on excitatory synapse formation
-
Margolis, S. S., Salogiannis, J., Lipton, D. M., Mandel-Brehm, C., Wills, Z. P., Mardinly, A. R., et al. (2010). EphB-mediated degradation of the RhoA GEF Ephexin5 relieves a developmental brake on excitatory synapse formation. Cell 143, 442-455. doi: 10.1016/j.cell.2010.09.038
-
(2010)
Cell
, vol.143
, pp. 442-455
-
-
Margolis, S.S.1
Salogiannis, J.2
Lipton, D.M.3
Mandel-Brehm, C.4
Wills, Z.P.5
Mardinly, A.R.6
-
36
-
-
84937410142
-
Angelman Syndrome
-
Margolis, S. S., Sell, G. L., Zbinden, M. A., and Bird, L. M. (2015). Angelman Syndrome. Neurotherapeutics 12, 641-650. doi: 10.1007/s13311-015-0361-y
-
(2015)
Neurotherapeutics
, vol.12
, pp. 641-650
-
-
Margolis, S.S.1
Sell, G.L.2
Zbinden, M.A.3
Bird, L.M.4
-
37
-
-
33644754219
-
Involvement of a cellular ubiquitin-protein ligase E6AP in the ubiquitin-mediated degradation of extensive substrates of high-risk human papillomavirus E6
-
Matsumoto, Y., Nakagawa, S., Yano, T., Takizawa, S., Nagasaka, K., Nakagawa, K., et al. (2006). Involvement of a cellular ubiquitin-protein ligase E6AP in the ubiquitin-mediated degradation of extensive substrates of high-risk human papillomavirus E6. J. Med. Virol. 78, 501-507. doi: 10.1002/jmv.20568
-
(2006)
J. Med. Virol
, vol.78
, pp. 501-507
-
-
Matsumoto, Y.1
Nakagawa, S.2
Yano, T.3
Takizawa, S.4
Nagasaka, K.5
Nakagawa, K.6
-
38
-
-
0031031570
-
De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome
-
Matsuura, T., Sutcliffe, J. S., Fang, P., Galjaard, R. J., Jiang, Y. H., Benton, C. S., et al. (1997). De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. Nat. Genet. 15, 74-77. doi: 10.1038/ng0197-74
-
(1997)
Nat. Genet
, vol.15
, pp. 74-77
-
-
Matsuura, T.1
Sutcliffe, J.S.2
Fang, P.3
Galjaard, R.J.4
Jiang, Y.H.5
Benton, C.S.6
-
39
-
-
84925227935
-
Towards a therapy for Angelman syndrome by targeting a long non-coding RNA
-
Meng, L., Ward, A. J., Chun, S., Bennett, C. F., Beaudet, A. L., and Rigo, F. (2014). Towards a therapy for Angelman syndrome by targeting a long non-coding RNA. Nature 518, 409-412. doi: 10.1038/nature13975
-
(2014)
Nature
, vol.518
, pp. 409-412
-
-
Meng, L.1
Ward, A.J.2
Chun, S.3
Bennett, C.F.4
Beaudet, A.L.5
Rigo, F.6
-
40
-
-
69749085632
-
UBE3A/E6-AP regulates cell proliferation by promoting proteasomal degradation of p27
-
Mishra, A., Godavarthi, S. K., and Jana, N. R. (2009). UBE3A/E6-AP regulates cell proliferation by promoting proteasomal degradation of p27. Neurobiol. Dis. 36, 26-34. doi: 10.1016/j.nbd.2009.06.010
-
(2009)
Neurobiol. Dis
, vol.36
, pp. 26-34
-
-
Mishra, A.1
Godavarthi, S.K.2
Jana, N.R.3
-
41
-
-
84872308389
-
E6-AP association promotes SOD1 aggresomes degradation and suppresses toxicity
-
1310.e11-23
-
Mishra, A., Maheshwari, M., Chhangani, D., Fujimori-Tonou, N., Endo, F., Joshi, A. P., et al. (2013). E6-AP association promotes SOD1 aggresomes degradation and suppresses toxicity. Neurobiol. Aging 34, 1310.e11-23. doi: 10.1016/j.neurobiolaging.2012.08.016
-
(2013)
Neurobiol. Aging
, vol.34
-
-
Mishra, A.1
Maheshwari, M.2
Chhangani, D.3
Fujimori-Tonou, N.4
Endo, F.5
Joshi, A.P.6
-
42
-
-
0036197031
-
Neurobehavioral and electroencephalographic abnormalities in Ube3a maternal-deficient mice
-
Miura, K., Kishino, T., Li, E., Webber, H., Dikkes, P., Holmes, G. L., et al. (2002). Neurobehavioral and electroencephalographic abnormalities in Ube3a maternal-deficient mice. Neurobiol. Dis. 9, 149-159. doi: 10.1006/nbdi.2001.0463
-
(2002)
Neurobiol. Dis
, vol.9
, pp. 149-159
-
-
Miura, K.1
Kishino, T.2
Li, E.3
Webber, H.4
Dikkes, P.5
Holmes, G.L.6
-
43
-
-
84931569823
-
15q11.2 duplication encompassing only the UBE3A gene is associated with developmental delay and neuropsychiatric phenotypes
-
Noor, A., Dupuis, L., Mittal, K., Lionel, A. C., Marshall, C. R., Scherer, S. W., et al. (2015). 15q11.2 duplication encompassing only the UBE3A gene is associated with developmental delay and neuropsychiatric phenotypes. Hum. Mutat. 36, 689-693. doi: 10.1002/humu.22800
-
(2015)
Hum. Mutat
, vol.36
, pp. 689-693
-
-
Noor, A.1
Dupuis, L.2
Mittal, K.3
Lionel, A.C.4
Marshall, C.R.5
Scherer, S.W.6
-
44
-
-
0035417396
-
Linkage disequilibrium at the Angelman syndrome gene UBE3A in autism families
-
Nurmi, E. L., Bradford, Y., Chen, Y., Hall, J., Arnone, B., Gardiner, M. B., et al. (2001). Linkage disequilibrium at the Angelman syndrome gene UBE3A in autism families. Genomics 77, 105-113. doi: 10.1006/geno.2001.6617
-
(2001)
Genomics
, vol.77
, pp. 105-113
-
-
Nurmi, E.L.1
Bradford, Y.2
Chen, Y.3
Hall, J.4
Arnone, B.5
Gardiner, M.B.6
-
45
-
-
46149087988
-
Elongation factor 2 and fragile X mental retardation protein control the dynamic translation of Arc/Arg3.1 essential for mGluR-LTD
-
Park, S., Park, J. M., Kim, S., Kim, J. A., Shepherd, J. D., Smith-Hicks, C. L., et al. (2008). Elongation factor 2 and fragile X mental retardation protein control the dynamic translation of Arc/Arg3.1 essential for mGluR-LTD. Neuron 59, 70-83. doi: 10.1016/j.neuron.2008.05.023
-
(2008)
Neuron
, vol.59
, pp. 70-83
-
-
Park, S.1
Park, J.M.2
Kim, S.3
Kim, J.A.4
Shepherd, J.D.5
Smith-Hicks, C.L.6
-
46
-
-
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., Licznar, A., Busson, M., Lazennec, G., et al. (2008). Phosphorylation of activation function-1 regulates proteasome-dependent nuclear mobility and E6-associated protein ubiquitin ligase recruitment to the estrogen receptor beta. Mol. Endocrinol. 22, 317-330. doi: 10.1210/me.2007-0281
-
(2008)
Mol. Endocrinol
, vol.22
, pp. 317-330
-
-
Picard, N.1
Charbonneau, C.2
Sanchez, M.3
Licznar, A.4
Busson, M.5
Lazennec, G.6
-
47
-
-
84897853518
-
Changes in mGlu5 receptor-dependent synaptic plasticity and coupling to homer proteins in the hippocampus of Ube3A hemizygous mice modeling angelman syndrome
-
Pignatelli, M., Piccinin, S., Molinaro, G., Di Menna, L., Riozzi, B., Cannella, M., et al. (2014). Changes in mGlu5 receptor-dependent synaptic plasticity and coupling to homer proteins in the hippocampus of Ube3A hemizygous mice modeling angelman syndrome. J. Neurosci. 34, 4558-4566. doi: 10.1523/JNEUROSCI.1846-13.2014
-
(2014)
J. Neurosci
, vol.34
, pp. 4558-4566
-
-
Pignatelli, M.1
Piccinin, S.2
Molinaro, G.3
Di Menna, L.4
Riozzi, B.5
Cannella, M.6
-
48
-
-
84882781833
-
R-loop formation at Snord116 mediates topotecan inhibition of Ube3a-antisense and allele-specific chromatin decondensation
-
Powell, W. T., Coulson, R. L., Gonzales, M. L., Crary, F. K., Wong, S. S., Adams, S., et al. (2013). R-loop formation at Snord116 mediates topotecan inhibition of Ube3a-antisense and allele-specific chromatin decondensation. Proc. Natl. Acad. Sci. U.S.A. 110, 13938-13943. doi: 10.1073/pnas.1305426110
-
(2013)
Proc. Natl. Acad. Sci. U.S.A
, vol.110
, pp. 13938-13943
-
-
Powell, W.T.1
Coulson, R.L.2
Gonzales, M.L.3
Crary, F.K.4
Wong, S.S.5
Adams, S.6
-
49
-
-
84869071743
-
A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder
-
Puffenberger, E. G., Jinks, R. N., Wang, H., Xin, B., Fiorentini, C., Sherman, E. A., et al. (2012). A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder. Hum. Mutat. 33, 1639-1646. doi: 10.1002/humu.22237
-
(2012)
Hum. Mutat
, vol.33
, pp. 1639-1646
-
-
Puffenberger, E.G.1
Jinks, R.N.2
Wang, H.3
Xin, B.4
Fiorentini, C.5
Sherman, E.A.6
-
50
-
-
33748751286
-
Expression of the Rho-GEF Pbl/ECT2 is regulated by the UBE3A E3 ubiquitin ligase
-
Reiter, L. T., Seagroves, T. N., Bowers, M., and Bier, E. (2006). Expression of the Rho-GEF Pbl/ECT2 is regulated by the UBE3A E3 ubiquitin ligase. Hum. Mol. Genet. 15, 2825-2835. doi: 10.1093/hmg/ddl225
-
(2006)
Hum. Mol. Genet
, vol.15
, pp. 2825-2835
-
-
Reiter, L.T.1
Seagroves, T.N.2
Bowers, M.3
Bier, E.4
-
51
-
-
0027358723
-
The HPV-16 E6 and E6-AP complex functions as a ubiquitin-protein ligase in the ubiquitination of p53
-
Scheffner, M., Huibregtse, J. M., Vierstra, R. D., and Howley, P. M. (1993). The HPV-16 E6 and E6-AP complex functions as a ubiquitin-protein ligase in the ubiquitination of p53. Cell 75, 495-505. doi: 10.1016/0092-8674(93)90384-3
-
(1993)
Cell
, vol.75
, pp. 495-505
-
-
Scheffner, M.1
Huibregtse, J.M.2
Vierstra, R.D.3
Howley, P.M.4
-
52
-
-
0032524621
-
Characterization of human hect domain family members and their interaction with UbcH5 and UbcH7
-
Schwarz, S. E., Rosa, J. L., and Scheffner, M. (1998). Characterization of human hect domain family members and their interaction with UbcH5 and UbcH7. J. Biol. Chem. 273, 12148-12154. doi: 10.1074/jbc.273.20.12148
-
(1998)
J. Biol. Chem
, vol.273
, pp. 12148-12154
-
-
Schwarz, S.E.1
Rosa, J.L.2
Scheffner, M.3
-
53
-
-
66149086505
-
Identification of annexin A1 as a novel substrate for E6AP-mediated ubiquitylation
-
Shimoji, T., Murakami, K., Sugiyama, Y., Matsuda, M., Inubushi, S., Nasu, J., et al. (2009). Identification of annexin A1 as a novel substrate for E6AP-mediated ubiquitylation. J. Cell. Biochem. 106, 1123-1135. doi: 10.1002/jcb.22096
-
(2009)
J. Cell. Biochem
, vol.106
, pp. 1123-1135
-
-
Shimoji, T.1
Murakami, K.2
Sugiyama, Y.3
Matsuda, M.4
Inubushi, S.5
Nasu, J.6
-
54
-
-
84929018021
-
Ube3a reinstatement identifies distinct developmental windows in a murine Angelman syndrome model
-
Silva-Santos, S., van Woerden, G. M., Bruinsma, C. F., Mientjes, E., Jolfaei, M. A., Distel, B., et al. (2015). Ube3a reinstatement identifies distinct developmental windows in a murine Angelman syndrome model. J. Clin. Invest. 125, 2069-2076. doi: 10.1172/JCI80554
-
(2015)
J. Clin. Invest
, vol.125
, pp. 2069-2076
-
-
Silva-Santos, S.1
van Woerden, G.M.2
Bruinsma, C.F.3
Mientjes, E.4
Jolfaei, M.A.5
Distel, B.6
-
55
-
-
0032453497
-
Autism and tuberous sclerosis
-
Smalley, S. L. (1998). Autism and tuberous sclerosis. J. Autism Dev. Disord. 28, 407-414. doi: 10.1023/A:1026052421693
-
(1998)
J. Autism Dev. Disord
, vol.28
, pp. 407-414
-
-
Smalley, S.L.1
-
56
-
-
80053626726
-
Increased gene dosage of Ube3a results in autism traits and decreased glutamate synaptic transmission in mice
-
Smith, S. E., Zhou, Y. D., Zhang, G., Jin, Z., Stoppel, D. C., and Anderson, M. P. (2011). Increased gene dosage of Ube3a results in autism traits and decreased glutamate synaptic transmission in mice. Sci. Transl. Med. 3, 103ra197. doi: 10.1126/scitranslmed.3002627
-
(2011)
Sci. Transl. Med
, vol.3
-
-
Smith, S.E.1
Zhou, Y.D.2
Zhang, G.3
Jin, Z.4
Stoppel, D.C.5
Anderson, M.P.6
-
57
-
-
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., and Bi, X. (2015). Imbalanced mechanistic target of rapamycin C1 and C2 activity in the cerebellum of Angelman syndrome mice impairs motor function. J. Neurosci. 35, 4706-4718. doi: 10.1523/JNEUROSCI.4276-14.2015
-
(2015)
J. Neurosci
, vol.35
, pp. 4706-4718
-
-
Sun, J.1
Liu, Y.2
Moreno, S.3
Baudry, M.4
Bi, X.5
-
58
-
-
0030890115
-
The E6-Ap ubiquitin-protein ligase (UBE3A) gene is localized within a narrowed Angelman syndrome critical region
-
Sutcliffe, J. S., Jiang, Y. H., Galijaard, R. J., Matsuura, T., Fang, P., Kubota, T., et al. (1997). The E6-Ap ubiquitin-protein ligase (UBE3A) gene is localized within a narrowed Angelman syndrome critical region. Genome Res. 7, 368-377
-
(1997)
Genome Res
, vol.7
, pp. 368-377
-
-
Sutcliffe, J.S.1
Jiang, Y.H.2
Galijaard, R.J.3
Matsuura, T.4
Fang, P.5
Kubota, T.6
-
59
-
-
84896319380
-
If not Angelman, what is it? A review of Angelman-like syndromes
-
Tan, W. H., Bird, L. M., Thibert, R. L., and Williams, C. A. (2014). If not Angelman, what is it? A review of Angelman-like syndromes. Am. J. Med. Genet. 164A, 975-992. doi: 10.1002/ajmg.a.36416
-
(2014)
Am. J. Med. Genet
, vol.164A
, pp. 975-992
-
-
Tan, W.H.1
Bird, L.M.2
Thibert, R.L.3
Williams, C.A.4
-
60
-
-
84878456977
-
Angelman syndrome caused by deletion: a genotype-phenotype correlation determined by breakpoint
-
Valente, K. D., Varela, M. C., Koiffmann, C. P., Andrade, J. Q., Grossmann, R., Kok, F., et al. (2013). Angelman syndrome caused by deletion: a genotype-phenotype correlation determined by breakpoint. Epilepsy Res. 105, 234-239. doi: 10.1016/j.eplepsyres.2012.12.005
-
(2013)
Epilepsy Res
, vol.105
, pp. 234-239
-
-
Valente, K.D.1
Varela, M.C.2
Koiffmann, C.P.3
Andrade, J.Q.4
Grossmann, R.5
Kok, F.6
-
61
-
-
33847210262
-
Rescue of neurological deficits in a mouse model for Angelman syndrome by reduction of alphaCaMKII inhibitory phosphorylation
-
van Woerden, G. M., Harris, K. D., Hojjati, M. R., Gustin, R. M., Qiu, S., De Avila Freire, R., et al. (2007). Rescue of neurological deficits in a mouse model for Angelman syndrome by reduction of alphaCaMKII inhibitory phosphorylation. Nat. Neurosci. 10, 280-282. doi: 10.1038/nn1845
-
(2007)
Nat. Neurosci
, vol.10
, pp. 280-282
-
-
van Woerden, G.M.1
Harris, K.D.2
Hojjati, M.R.3
Gustin, R.M.4
Qiu, S.5
De Avila Freire, R.6
-
62
-
-
84879800606
-
Exome sequencing reveals new causal mutations in children with epileptic encephalopathies
-
Veeramah, K. R., Johnstone, L., Karafet, T. M., Wolf, D., Sprissler, R., Salogiannis, J., et al. (2013). Exome sequencing reveals new causal mutations in children with epileptic encephalopathies. Epilepsia 54, 1270-1281. doi: 10.1111/epi.12201
-
(2013)
Epilepsia
, vol.54
, pp. 1270-1281
-
-
Veeramah, K.R.1
Johnstone, L.2
Karafet, T.M.3
Wolf, D.4
Sprissler, R.5
Salogiannis, J.6
-
63
-
-
0345701252
-
Derangements of hippocampal calcium/calmodulin-dependent protein kinase II in a mouse model for Angelman mental retardation syndrome
-
Weeber, E. J., Jiang, Y. H., Elgersma, Y., Varga, A. W., Carrasquillo, Y., Brown, S. E., et al. (2003). Derangements of hippocampal calcium/calmodulin-dependent protein kinase II in a mouse model for Angelman mental retardation syndrome. J. Neurosci. 23, 2634-2644
-
(2003)
J. Neurosci
, vol.23
, pp. 2634-2644
-
-
Weeber, E.J.1
Jiang, Y.H.2
Elgersma, Y.3
Varga, A.W.4
Carrasquillo, Y.5
Brown, S.E.6
-
65
-
-
33644865491
-
Angelman syndrome 2005, updated consensus for diagnostic criteria
-
Williams, C. A., Beaudet, A. L., Clayton-Smith, J., Knoll, J. H., Kyllerman, M., Laan, L. A., et al. (2006). Angelman syndrome 2005: updated consensus for diagnostic criteria. Am. J. Med. Genet. A 140, 413-418. doi: 10.1002/ajmg.a.31074
-
(2006)
Am. J. Med. Genet. A
, vol.140
, pp. 413-418
-
-
Williams, C.A.1
Beaudet, A.L.2
Clayton-Smith, J.3
Knoll, J.H.4
Kyllerman, M.5
Laan, L.A.6
-
66
-
-
80051529838
-
Dramatic loss of Ube3A expression during aging of the mammalian cortex
-
Williams, K., Irwin, D. A., Jones, D. G., and Murphy, K. M. (2010). Dramatic loss of Ube3A expression during aging of the mammalian cortex. Front. Aging Neurosci. 2:18. doi: 10.3389/fnagi.2010.00018
-
(2010)
Front. Aging Neurosci
, vol.2
, pp. 18
-
-
Williams, K.1
Irwin, D.A.2
Jones, D.G.3
Murphy, K.M.4
-
67
-
-
39749113228
-
E3 ubiquitin ligase E6AP-mediated TSC2 turnover in the presence and absence of HPV16 E6
-
Zheng, L., Ding, H., Lu, Z., Li, Y., Pan, Y., Ning, T., et al. (2008). E3 ubiquitin ligase E6AP-mediated TSC2 turnover in the presence and absence of HPV16 E6. Genes Cells 13, 285-294. doi: 10.1111/j.1365-2443.2008.01162.x
-
(2008)
Genes Cells
, vol.13
, pp. 285-294
-
-
Zheng, L.1
Ding, H.2
Lu, Z.3
Li, Y.4
Pan, Y.5
Ning, T.6
|