-
1
-
-
84891789190
-
PRICKLE1 interaction with SYNAPSIN I reveals a role in autism spectrum disorders
-
Paemka L, Mahajan VB, Skeie JM, Sowers LP, Ehaideb SN, Gonzalez-Alegre P, et al. PRICKLE1 interaction with SYNAPSIN I reveals a role in autism spectrum disorders. PLoS One. 2013; 8: e80737. doi: 10.1371/journal.pone.0080737 24312498
-
(2013)
PLoS One
, vol.8
-
-
Paemka, L.1
Mahajan, V.B.2
Skeie, J.M.3
Sowers, L.P.4
Ehaideb, S.N.5
Gonzalez-Alegre, P.6
-
2
-
-
84884674613
-
Disruption of the non-canonical Wnt gene PRICKLE2 leads to autism-like behaviors with evidence for hippocampal synaptic dysfunction
-
Sowers LP, Loo L, Wu Y, Campbell E, Ulrich JD, Wu S, et al. Disruption of the non-canonical Wnt gene PRICKLE2 leads to autism-like behaviors with evidence for hippocampal synaptic dysfunction. Mol Psychiatry. 2013; 18: 1077–1089. doi: 10.1038/mp.2013.71 23711981
-
(2013)
Mol Psychiatry
, vol.18
, pp. 1077-1089
-
-
Sowers, L.P.1
Loo, L.2
Wu, Y.3
Campbell, E.4
Ulrich, J.D.5
Wu, S.6
-
3
-
-
84905043714
-
prickle modulates microtubule polarity and axonal transport to ameliorate seizures in flies
-
Ehaideb SN, Iyengar A, Ueda A, Iacobucci GJ, Cranston C, Bassuk AG, et al. prickle modulates microtubule polarity and axonal transport to ameliorate seizures in flies. Proc Natl Acad Sci U S A. 2014; 111: 11187–11192. doi: 10.1073/pnas.1403357111 25024231
-
(2014)
Proc Natl Acad Sci U S A
, vol.111
, pp. 11187-11192
-
-
Ehaideb, S.N.1
Iyengar, A.2
Ueda, A.3
Iacobucci, G.J.4
Cranston, C.5
Bassuk, A.G.6
-
4
-
-
55049083176
-
A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome
-
Bassuk AG, Wallace RH, Buhr A, Buller AR, Afawi Z, Shimojo M, et al. A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. Am J Hum Genet. 2008; 83: 572–581. doi: 10.1016/j.ajhg.2008.10.003 18976727
-
(2008)
Am J Hum Genet
, vol.83
, pp. 572-581
-
-
Bassuk, A.G.1
Wallace, R.H.2
Buhr, A.3
Buller, A.R.4
Afawi, Z.5
Shimojo, M.6
-
5
-
-
79851516501
-
Mutations in prickle orthologs cause seizures in flies, mice, and humans
-
Tao H, Manak JR, Sowers L, Mei X, Kiyonari H, Abe T, et al. Mutations in prickle orthologs cause seizures in flies, mice, and humans. Am J Hum Genet. 2011; 88: 138–149. doi: 10.1016/j.ajhg.2010.12.012 21276947
-
(2011)
Am J Hum Genet
, vol.88
, pp. 138-149
-
-
Tao, H.1
Manak, J.R.2
Sowers, L.3
Mei, X.4
Kiyonari, H.5
Abe, T.6
-
6
-
-
84863020537
-
Mink1 regulates beta-catenin-independent Wnt signaling via Prickle phosphorylation
-
Daulat AM, Luu O, Sing A, Zhang L, Wrana JL, McNeill H, et al. Mink1 regulates beta-catenin-independent Wnt signaling via Prickle phosphorylation. Mol Cell Biol. 2012; 32: 173–185. doi: 10.1128/MCB.06320-11 22037766
-
(2012)
Mol Cell Biol
, vol.32
, pp. 173-185
-
-
Daulat, A.M.1
Luu, O.2
Sing, A.3
Zhang, L.4
Wrana, J.L.5
McNeill, H.6
-
7
-
-
0345491828
-
REST/NRSF-interacting LIM domain protein, a putative nuclear translocation receptor
-
Shimojo M, Hersh LB, REST/NRSF-interacting LIM domain protein, a putative nuclear translocation receptor. Mol Cell Biol. 2003; 23: 9025–9031. 14645515
-
(2003)
Mol Cell Biol
, vol.23
, pp. 9025-9031
-
-
Shimojo, M.1
Hersh, L.B.2
-
8
-
-
64249102010
-
Regulation of planar cell polarity by Smurf ubiquitin ligases
-
Narimatsu M, Bose R, Pye M, Zhang L, Miller B, Ching P, et al. Regulation of planar cell polarity by Smurf ubiquitin ligases. Cell. 2009; 137: 295–307. doi: 10.1016/j.cell.2009.02.025 19379695
-
(2009)
Cell
, vol.137
, pp. 295-307
-
-
Narimatsu, M.1
Bose, R.2
Pye, M.3
Zhang, L.4
Miller, B.5
Ching, P.6
-
9
-
-
58049197863
-
Huntingtin regulates RE1-silencing transcription factor/neuron-restrictive silencer factor (REST/NRSF) nuclear trafficking indirectly through a complex with REST/NRSF-interacting LIM domain protein (RILP) and dynactin p150 Glued
-
Shimojo M, Huntingtin regulates RE1-silencing transcription factor/neuron-restrictive silencer factor (REST/NRSF) nuclear trafficking indirectly through a complex with REST/NRSF-interacting LIM domain protein (RILP) and dynactin p150 Glued. J Biol Chem. 2008; 283: 34880–34886. doi: 10.1074/jbc.M804183200 18922795
-
(2008)
J Biol Chem
, vol.283
, pp. 34880-34886
-
-
Shimojo, M.1
-
10
-
-
0027320760
-
A system for characterizing cellular and molecular events in programmed neuronal cell death
-
Pittman RN, Wang S, DiBenedetto AJ, Mills JC, A system for characterizing cellular and molecular events in programmed neuronal cell death. J Neurosci. 1993; 13: 3669–3680. 8396168
-
(1993)
J Neurosci
, vol.13
, pp. 3669-3680
-
-
Pittman, R.N.1
Wang, S.2
DiBenedetto, A.J.3
Mills, J.C.4
-
11
-
-
65249120839
-
USP9X enhances the polarity and self-renewal of embryonic stem cell-derived neural progenitors
-
Jolly LA, Taylor V, Wood SA, USP9X enhances the polarity and self-renewal of embryonic stem cell-derived neural progenitors. Mol Biol Cell. 2009; 20: 2015–2029. doi: 10.1091/mbc.E08-06-0596 19176755
-
(2009)
Mol Biol Cell
, vol.20
, pp. 2015-2029
-
-
Jolly, L.A.1
Taylor, V.2
Wood, S.A.3
-
12
-
-
84879824271
-
Loss of Usp9x disrupts cortical architecture, hippocampal development and TGFbeta-mediated axonogenesis
-
Stegeman S, Jolly LA, Premarathne S, Gecz J, Richards LJ, Mackay-Sim A, et al. Loss of Usp9x disrupts cortical architecture, hippocampal development and TGFbeta-mediated axonogenesis. PLoS One. 2013; 8: e68287. doi: 10.1371/journal.pone.0068287 23861879
-
(2013)
PLoS One
, vol.8
-
-
Stegeman, S.1
Jolly, L.A.2
Premarathne, S.3
Gecz, J.4
Richards, L.J.5
Mackay-Sim, A.6
-
13
-
-
84873323376
-
Deubiquitinase FAM/USP9X interacts with the E3 ubiquitin ligase SMURF1 protein and protects it from ligase activity-dependent self-degradation
-
Xie Y, Avello M, Schirle M, McWhinnie E, Feng Y, Bric-Furlong E, et al. Deubiquitinase FAM/USP9X interacts with the E3 ubiquitin ligase SMURF1 protein and protects it from ligase activity-dependent self-degradation. J Biol Chem. 2013; 288: 2976–2985. doi: 10.1074/jbc.M112.430066 23184937
-
(2013)
J Biol Chem
, vol.288
, pp. 2976-2985
-
-
Xie, Y.1
Avello, M.2
Schirle, M.3
McWhinnie, E.4
Feng, Y.5
Bric-Furlong, E.6
-
14
-
-
84896768982
-
Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth
-
Homan CC, Kumar R, Nguyen LS, Haan E, Raymond FL, Abidi F, et al. Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth. Am J Hum Genet. 2014; 94: 470–478. doi: 10.1016/j.ajhg.2014.02.004 24607389
-
(2014)
Am J Hum Genet
, vol.94
, pp. 470-478
-
-
Homan, C.C.1
Kumar, R.2
Nguyen, L.S.3
Haan, E.4
Raymond, F.L.5
Abidi, F.6
-
15
-
-
17744379221
-
Spatially and temporally specific expression in mouse hippocampus of Usp9x, a ubiquitin-specific protease involved in synaptic development
-
Xu J, Taya S, Kaibuchi K, Arnold AP, Spatially and temporally specific expression in mouse hippocampus of Usp9x, a ubiquitin-specific protease involved in synaptic development. J Neurosci Res. 2005; 80: 47–55. 15723417
-
(2005)
J Neurosci Res
, vol.80
, pp. 47-55
-
-
Xu, J.1
Taya, S.2
Kaibuchi, K.3
Arnold, A.P.4
-
16
-
-
0344304420
-
Rapid Ca2+-dependent decrease of protein ubiquitination at synapses
-
Chen H, Polo S, Di Fiore PP, De Camilli PV, Rapid Ca2+-dependent decrease of protein ubiquitination at synapses. Proc Natl Acad Sci U S A. 2003; 100: 14908–14913. 14657369
-
(2003)
Proc Natl Acad Sci U S A
, vol.100
, pp. 14908-14913
-
-
Chen, H.1
Polo, S.2
Di Fiore, P.P.3
De Camilli, P.V.4
-
17
-
-
84875981508
-
Role of ubiquitin ligases and the proteasome in oncogenesis: novel targets for anticancer therapies
-
Micel LN, Tentler JJ, Smith PG, Eckhardt GS, Role of ubiquitin ligases and the proteasome in oncogenesis: novel targets for anticancer therapies. J Clin Oncol. 2013; 31: 1231–1238. doi: 10.1200/JCO.2012.44.0958 23358974
-
(2013)
J Clin Oncol
, vol.31
, pp. 1231-1238
-
-
Micel, L.N.1
Tentler, J.J.2
Smith, P.G.3
Eckhardt, G.S.4
-
18
-
-
0027087073
-
The fat facets gene is required for Drosophila eye and embryo development
-
Fischer-Vize JA, Rubin GM, Lehmann R, The fat facets gene is required for Drosophila eye and embryo development. Development. 1992; 116: 985–1000. 1295747
-
(1992)
Development
, vol.116
, pp. 985-1000
-
-
Fischer-Vize, J.A.1
Rubin, G.M.2
Lehmann, R.3
-
19
-
-
84880415764
-
Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant Dandy-Walker malformation and occipital cephaloceles
-
Darbro BW, Mahajan VB, Gakhar L, Skeie JM, Campbell E, Wu S, et al. Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant Dandy-Walker malformation and occipital cephaloceles. Human mutation. 2013; 34: 1075–1079. doi: 10.1002/humu.22351 23674478
-
(2013)
Human mutation
, vol.34
, pp. 1075-1079
-
-
Darbro, B.W.1
Mahajan, V.B.2
Gakhar, L.3
Skeie, J.M.4
Campbell, E.5
Wu, S.6
-
20
-
-
0031966041
-
LIM domains: multiple roles as adapters and functional modifiers in protein interactions
-
Dawid IB, Breen JJ, Toyama R, LIM domains: multiple roles as adapters and functional modifiers in protein interactions. Trends in genetics: TIG. 1998; 14: 156–162. 9594664
-
(1998)
Trends in genetics: TIG
, vol.14
, pp. 156-162
-
-
Dawid, I.B.1
Breen, J.J.2
Toyama, R.3
-
21
-
-
73849083434
-
Deubiquitinase USP9X stabilizes MCL1 and promotes tumour cell survival
-
Schwickart M, Huang X, Lill JR, Liu J, Ferrando R, French DM, et al. Deubiquitinase USP9X stabilizes MCL1 and promotes tumour cell survival. Nature. 2010; 463: 103–107. doi: 10.1038/nature08646 20023629
-
(2010)
Nature
, vol.463
, pp. 103-107
-
-
Schwickart, M.1
Huang, X.2
Lill, J.R.3
Liu, J.4
Ferrando, R.5
French, D.M.6
-
22
-
-
84859762823
-
Identification of ubiquitin-specific protease 9X (USP9X) as a deubiquitinase acting on ubiquitin-peroxin 5 (PEX5) thioester conjugate
-
Grou CP, Francisco T, Rodrigues TA, Freitas MO, Pinto MP, Carvalho AF, et al. Identification of ubiquitin-specific protease 9X (USP9X) as a deubiquitinase acting on ubiquitin-peroxin 5 (PEX5) thioester conjugate. J Biol Chem. 2012; 287: 12815–12827. doi: 10.1074/jbc.M112.340158 22371489
-
(2012)
J Biol Chem
, vol.287
, pp. 12815-12827
-
-
Grou, C.P.1
Francisco, T.2
Rodrigues, T.A.3
Freitas, M.O.4
Pinto, M.P.5
Carvalho, A.F.6
-
23
-
-
14444268087
-
The Ras target AF-6 is a substrate of the fam deubiquitinating enzyme
-
Taya S, Yamamoto T, Kano K, Kawano Y, Iwamatsu A, Tsuchiya T, et al. The Ras target AF-6 is a substrate of the fam deubiquitinating enzyme. J Cell Biol. 1998; 142: 1053–1062. 9722616
-
(1998)
J Cell Biol
, vol.142
, pp. 1053-1062
-
-
Taya, S.1
Yamamoto, T.2
Kano, K.3
Kawano, Y.4
Iwamatsu, A.5
Tsuchiya, T.6
-
24
-
-
78549247880
-
Deubiquitinase inhibition by small-molecule WP1130 triggers aggresome formation and tumor cell apoptosis
-
Kapuria V, Peterson LF, Fang D, Bornmann WG, Talpaz M, Donato NJ, Deubiquitinase inhibition by small-molecule WP1130 triggers aggresome formation and tumor cell apoptosis. Cancer Res. 2010; 70: 9265–9276. doi: 10.1158/0008-5472.CAN-10-1530 21045142
-
(2010)
Cancer Res
, vol.70
, pp. 9265-9276
-
-
Kapuria, V.1
Peterson, L.F.2
Fang, D.3
Bornmann, W.G.4
Talpaz, M.5
Donato, N.J.6
-
25
-
-
66749148353
-
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
-
Tarpey PS, Smith R, Pleasance E, Whibley A, Edkins S, Hardy C, et al. A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nat Genet. 2009; 41: 535–543. doi: 10.1038/ng.367 19377476
-
(2009)
Nat Genet
, vol.41
, pp. 535-543
-
-
Tarpey, P.S.1
Smith, R.2
Pleasance, E.3
Whibley, A.4
Edkins, S.5
Hardy, C.6
-
26
-
-
84912101541
-
The contribution of de novo coding mutations to autism spectrum disorder: Supplementary Table 2
-
Iossifov I, O'Roak BJ, Sanders SJ, Ronemus M, Krumm N, Levy D, et al. The contribution of de novo coding mutations to autism spectrum disorder: Supplementary Table 2. Nature. 2014.
-
(2014)
-
-
Iossifov, I.1
O'Roak, B.J.2
Sanders, S.J.3
Ronemus, M.4
Krumm, N.5
Levy, D.6
-
27
-
-
79951548110
-
Drosophila as a model for epilepsy: bss is a gain-of-function mutation in the para sodium channel gene that leads to seizures
-
Parker L, Padilla M, Du Y, Dong K, Tanouye MA, Drosophila as a model for epilepsy: bss is a gain-of-function mutation in the para sodium channel gene that leads to seizures. Genetics. 2011; 187: 523–534. doi: 10.1534/genetics.110.123299 21115970
-
(2011)
Genetics
, vol.187
, pp. 523-534
-
-
Parker, L.1
Padilla, M.2
Du, Y.3
Dong, K.4
Tanouye, M.A.5
-
28
-
-
0015056611
-
Temperature-sensitive mutations in Drosophila melanogaster. VII. A mutation (para-ts) causing reversible adult paralysis
-
Suzuki DT, Grigliatti T, Williamson R, Temperature-sensitive mutations in Drosophila melanogaster. VII. A mutation (para-ts) causing reversible adult paralysis. Proc Natl Acad Sci U S A. 1971; 68: 890–893. 5280526
-
(1971)
Proc Natl Acad Sci U S A
, vol.68
, pp. 890-893
-
-
Suzuki, D.T.1
Grigliatti, T.2
Williamson, R.3
-
29
-
-
0004688543
-
Neurophysiological defects in temperature-sensitive paralytic mutants of Drosophila melanogaster
-
Siddiqi O, Benzer S, Neurophysiological defects in temperature-sensitive paralytic mutants of Drosophila melanogaster. Proc Natl Acad Sci U S A. 1976; 73: 3253–3257. 184469
-
(1976)
Proc Natl Acad Sci U S A
, vol.73
, pp. 3253-3257
-
-
Siddiqi, O.1
Benzer, S.2
-
30
-
-
0018944414
-
Genetic alteration of nerve membrane excitability in temperature-sensitive paralytic mutants of Drosophila melanogaster
-
Wu CF, Ganetzky B, Genetic alteration of nerve membrane excitability in temperature-sensitive paralytic mutants of Drosophila melanogaster. Nature. 1980; 286: 814–816. 6250083
-
(1980)
Nature
, vol.286
, pp. 814-816
-
-
Wu, C.F.1
Ganetzky, B.2
-
31
-
-
0034856318
-
Genetic suppression of seizure susceptibility in Drosophila
-
Kuebler D, Zhang H, Ren X, Tanouye MA, Genetic suppression of seizure susceptibility in Drosophila. J Neurophysiol. 2001; 86: 1211–1225. 11535671
-
(2001)
J Neurophysiol
, vol.86
, pp. 1211-1225
-
-
Kuebler, D.1
Zhang, H.2
Ren, X.3
Tanouye, M.A.4
-
32
-
-
84926218683
-
-
VIB Department of Molecular Genetics. SCN1A Variant Database Antwerp, Belgium: University of Antwerp; 2009 [updated 22 June 2011; cited 2014 13 Nov]. The Variation Database of SCN1A was made public in February 2009. The SCN2001A variation database aims at collecting all variations in the voltage-gated sodium channel Nav2001.2001. Variations are collected from the literature and by direct submission through this website.]. Available from: http://www.molgen.ua.ac.be/SCN1AMutations/Home/Default.cfm.
-
-
-
-
33
-
-
84875445593
-
A Cul-3-BTB ubiquitylation pathway regulates junctional levels and asymmetry of core planar polarity proteins
-
Strutt H, Searle E, Thomas-Macarthur V, Brookfield R, Strutt D, A Cul-3-BTB ubiquitylation pathway regulates junctional levels and asymmetry of core planar polarity proteins. Development. 2013; 140: 1693–1702. doi: 10.1242/dev.089656 23487316
-
(2013)
Development
, vol.140
, pp. 1693-1702
-
-
Strutt, H.1
Searle, E.2
Thomas-Macarthur, V.3
Brookfield, R.4
Strutt, D.5
-
34
-
-
84868686559
-
Diagnostic exome sequencing in persons with severe intellectual disability
-
de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T, et al. Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med. 2012; 367: 1921–1929. doi: 10.1056/NEJMoa1206524 23033978
-
(2012)
N Engl J Med
, vol.367
, pp. 1921-1929
-
-
de Ligt, J.1
Willemsen, M.H.2
van Bon, B.W.3
Kleefstra, T.4
Yntema, H.G.5
Kroes, T.6
-
35
-
-
84860297457
-
De novo gene disruptions in children on the autistic spectrum
-
Iossifov I, Ronemus M, Levy D, Wang Z, Hakker I, Rosenbaum J, et al. De novo gene disruptions in children on the autistic spectrum. Neuron. 2012; 74: 285–299. doi: 10.1016/j.neuron.2012.04.009 22542183
-
(2012)
Neuron
, vol.74
, pp. 285-299
-
-
Iossifov, I.1
Ronemus, M.2
Levy, D.3
Wang, Z.4
Hakker, I.5
Rosenbaum, J.6
-
36
-
-
84921803785
-
De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies
-
De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies. American journal of human genetics. 2014; 95: 360–370. doi: 10.1016/j.ajhg.2014.08.013 25262651
-
(2014)
American journal of human genetics
, vol.95
, pp. 360-370
-
-
-
37
-
-
0017710978
-
Characteristics of a human cell line transformed by DNA from human adenovirus type 5
-
Graham FL, Smiley J, Russell WC, Nairn R, Characteristics of a human cell line transformed by DNA from human adenovirus type 5. The Journal of general virology. 1977; 36: 59–74. 886304
-
(1977)
The Journal of general virology
, vol.36
, pp. 59-74
-
-
Graham, F.L.1
Smiley, J.2
Russell, W.C.3
Nairn, R.4
-
38
-
-
1642290757
-
Aberrant cellular behavior of mutant torsinA implicates nuclear envelope dysfunction in DYT1 dystonia
-
Gonzalez-Alegre P, Paulson HL, Aberrant cellular behavior of mutant torsinA implicates nuclear envelope dysfunction in DYT1 dystonia. J Neurosci. 2004; 24: 2593–2601. 15028751
-
(2004)
J Neurosci
, vol.24
, pp. 2593-2601
-
-
Gonzalez-Alegre, P.1
Paulson, H.L.2
-
39
-
-
84879684377
-
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1
-
Carvill GL, Heavin SB, Yendle SC, McMahon JM, O'Roak BJ, Cook J, et al. Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. Nat Genet. 2013; 45: 825–830. doi: 10.1038/ng.2646 23708187
-
(2013)
Nat Genet
, vol.45
, pp. 825-830
-
-
Carvill, G.L.1
Heavin, S.B.2
Yendle, S.C.3
McMahon, J.M.4
O'Roak, B.J.5
Cook, J.6
-
40
-
-
77950857874
-
Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005–2009
-
Berg AT, Berkovic SF, Brodie MJ, Buchhalter J, Cross JH, van Emde Boas W, et al. Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005–2009. Epilepsia. 2010; 51: 676–685. doi: 10.1111/j.1528-1167.2010.02522.x 20196795
-
(2010)
Epilepsia
, vol.51
, pp. 676-685
-
-
Berg, A.T.1
Berkovic, S.F.2
Brodie, M.J.3
Buchhalter, J.4
Cross, J.H.5
van Emde, B.W.6
|