-
1
-
-
79951814161
-
A novel frameshift mutation in UPF3B identified in brothers affected with childhood onset schizophrenia and autism spectrum disorders
-
Addington AM, Gauthier J, Piton A, Hamdan FF, Raymond A, Gogtay N, et al. A novel frameshift mutation in UPF3B identified in brothers affected with childhood onset schizophrenia and autism spectrum disorders. Mol Psychiatry. 2010;16:238-9.
-
(2010)
Mol Psychiatry
, vol.16
, pp. 238-239
-
-
Addington, A.M.1
Gauthier, J.2
Piton, A.3
Hamdan, F.F.4
Raymond, A.5
Gogtay, N.6
-
2
-
-
34548353924
-
Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation
-
Tarpey PS, Lucy Raymond F, Nguyen LS, Rodriguez J, Hackett A, Vandeleur L, et al. Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation. Nat Genet. 2007;39:1127-33.
-
(2007)
Nat Genet
, vol.39
, pp. 1127-1133
-
-
Tarpey, P.S.1
Lucy Raymond, F.2
Nguyen, L.S.3
Rodriguez, J.4
Hackett, A.5
Vandeleur, L.6
-
3
-
-
77953914253
-
Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism
-
Laumonnier F, Shoubridge C, Antar C, Nguyen LS, Van Esch H, Kleefstra T, et al. Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism. Mol Psychiatry. 2010;15:767-76.
-
(2010)
Mol Psychiatry
, vol.15
, pp. 767-776
-
-
Laumonnier, F.1
Shoubridge, C.2
Antar, C.3
Nguyen, L.S.4
Van Esch, H.5
Kleefstra, T.6
-
4
-
-
84864123489
-
Broadening the phenotype associated with mutations in UPF3B: Two further cases with renal dysplasia and variable developmental delay
-
Lynch SA, Nguyen LS, Ng LY, Waldron M, McDonald D, Gecz J. Broadening the phenotype associated with mutations in UPF3B: Two further cases with renal dysplasia and variable developmental delay. Eur J Med Genet. 2012;55:476-9.
-
(2012)
Eur J Med Genet
, vol.55
, pp. 476-479
-
-
Lynch, S.A.1
Nguyen, L.S.2
Ng, L.Y.3
Waldron, M.4
McDonald, D.5
Gecz, J.6
-
5
-
-
84860285958
-
A nonconservative amino acid change in the UPF3B gene in a patient with schizophrenia
-
Szyszka P, Sharp SI, Dedman A, Gurling HM, McQuillin A. A nonconservative amino acid change in the UPF3B gene in a patient with schizophrenia. Psychiatr Genet. 2012;22:150-1.
-
(2012)
Psychiatr Genet
, vol.22
, pp. 150-151
-
-
Szyszka, P.1
Sharp, S.I.2
Dedman, A.3
Gurling, H.M.4
McQuillin, A.5
-
6
-
-
84876814034
-
Exome sequencing identifies UPF3B as the causative gene for a Chinese non-syndrome mental retardation pedigree
-
Xu X, Zhang L, Tong P, Xun G, Su W, Xiong Z, et al. Exome sequencing identifies UPF3B as the causative gene for a Chinese non-syndrome mental retardation pedigree. Clin Genet. 2013;83:560-4.
-
(2013)
Clin Genet
, vol.83
, pp. 560-564
-
-
Xu, X.1
Zhang, L.2
Tong, P.3
Xun, G.4
Su, W.5
Xiong, Z.6
-
7
-
-
77949904260
-
Nonsense-mediated mRNA decay in human cells: Mechanistic insights, functions beyond quality control and the double-life of NMD factors
-
Nicholson P, Yepiskoposyan H, Metze S, Zamudio Orozco R, Kleinschmidt N, Muehlemann O. Nonsense-mediated mRNA decay in human cells: mechanistic insights, functions beyond quality control and the double-life of NMD factors. Cell Mol Life Sci. 2010;67:677-700.
-
(2010)
Cell Mol Life Sci
, vol.67
, pp. 677-700
-
-
Nicholson, P.1
Yepiskoposyan, H.2
Metze, S.3
Zamudio Orozco, R.4
Kleinschmidt, N.5
Muehlemann, O.6
-
8
-
-
84867850145
-
NMD: A multifaceted response to premature translational termination
-
Kervestin S, Jacobson A. NMD: a multifaceted response to premature translational termination. Nat Rev Mol Cell Biol. 2012;13:700-12.
-
(2012)
Nat Rev Mol Cell Biol
, vol.13
, pp. 700-712
-
-
Kervestin, S.1
Jacobson, A.2
-
9
-
-
0037064145
-
Separable roles for rent1/hUpf1 in altered splicing and decay of nonsense transcripts
-
Mendell JT, Ap Rhys CM, Dietz HC. Separable roles for rent1/hUpf1 in altered splicing and decay of nonsense transcripts. Science. 2002;298:419-22.
-
(2002)
Science
, vol.298
, pp. 419-422
-
-
Mendell, J.T.1
Ap Rhys, C.M.2
Dietz, H.C.3
-
10
-
-
81755172088
-
Autoregulation of the nonsense-mediated mRNA decay pathway in human cells
-
Yepiskoposyan H, Aeschimann F, Nilsson D, Okoniewski M, Muehlemann O. Autoregulation of the nonsense-mediated mRNA decay pathway in human cells. RNA. 2011;17:2108-18.
-
(2011)
RNA
, vol.17
, pp. 2108-2118
-
-
Yepiskoposyan, H.1
Aeschimann, F.2
Nilsson, D.3
Okoniewski, M.4
Muehlemann, O.5
-
11
-
-
33646865949
-
Functions of hUpf3a and hUpf3b in nonsense-mediated mRNA decay and translation
-
Kunz JB, Neu-Yilik G, Hentze MW, Kulozik AE, Gehring NH. Functions of hUpf3a and hUpf3b in nonsense-mediated mRNA decay and translation. RNA. 2006;12:1015-22.
-
(2006)
RNA
, vol.12
, pp. 1015-1022
-
-
Kunz, J.B.1
Neu-Yilik, G.2
Hentze, M.W.3
Kulozik, A.E.4
Gehring, N.H.5
-
12
-
-
34247205419
-
An alternative branch of the nonsense-mediated decay pathway
-
Chan WK, Huang L, Gudikote JP, Chang YF, Imam JS, MacLean JA, et al. An alternative branch of the nonsense-mediated decay pathway. EMBO J. 2007;26:1820-30.
-
(2007)
EMBO J
, vol.26
, pp. 1820-1830
-
-
Chan, W.K.1
Huang, L.2
Gudikote, J.P.3
Chang, Y.F.4
Imam, J.S.5
MacLean, J.A.6
-
13
-
-
67650330563
-
A UPF3-mediated regulatory switch that maintains RNA surveillance
-
Chan WK, Bhalla AD, Le Hir H, Nguyen LS, Huang L, Gecz J, et al. A UPF3-mediated regulatory switch that maintains RNA surveillance. Nat Struct Mol Biol. 2009;16:747-53.
-
(2009)
Nat Struct Mol Biol
, vol.16
, pp. 747-753
-
-
Chan, W.K.1
Bhalla, A.D.2
Le Hir, H.3
Nguyen, L.S.4
Huang, L.5
Gecz, J.6
-
14
-
-
37849005006
-
NMD factors UPF2 and UPF3 bridge UPF1 to the exon junction complex and stimulate its RNA helicase activity
-
Chamieh H, Ballut L, Bonneau F, Le Hir H. NMD factors UPF2 and UPF3 bridge UPF1 to the exon junction complex and stimulate its RNA helicase activity. Nat Struct Mol Biol. 2008;15:85-93.
-
(2008)
Nat Struct Mol Biol
, vol.15
, pp. 85-93
-
-
Chamieh, H.1
Ballut, L.2
Bonneau, F.3
Le Hir, H.4
-
15
-
-
68249138707
-
Unusual bipartite mode of interaction between the nonsense-mediated decay factors UPF1 and UPF2
-
Clerici M, Mourao A, Gutsche I, Gehring NH, Hentze MW, Kulozik A, et al. Unusual bipartite mode of interaction between the nonsense-mediated decay factors, UPF1 and UPF2. EMBO J. 2009;28:2293-306.
-
(2009)
EMBO J
, vol.28
, pp. 2293-2306
-
-
Clerici, M.1
Mourao, A.2
Gutsche, I.3
Gehring, N.H.4
Hentze, M.W.5
Kulozik, A.6
-
16
-
-
1842473091
-
The structural basis for the interaction between nonsense-mediated mRNA decay factors UPF2 and UPF3
-
Kadlec J, Izaurralde E, Cusack S. The structural basis for the interaction between nonsense-mediated mRNA decay factors UPF2 and UPF3. Nat Struct Mol Biol. 2004;11:330-7.
-
(2004)
Nat Struct Mol Biol
, vol.11
, pp. 330-337
-
-
Kadlec, J.1
Izaurralde, E.2
Cusack, S.3
-
17
-
-
40949148553
-
Interactions between UPF1, eRFs, PABP and the exon junction complex suggest an integrated model for mammalian NMD pathways
-
Ivanov PV, Gehring NH, Kunz JB, Hentze MW, Kulozik AE. Interactions between UPF1, eRFs, PABP and the exon junction complex suggest an integrated model for mammalian NMD pathways. EMBO J. 2008;27:736-47.
-
(2008)
EMBO J
, vol.27
, pp. 736-747
-
-
Ivanov, P.V.1
Gehring, N.H.2
Kunz, J.B.3
Hentze, M.W.4
Kulozik, A.E.5
-
18
-
-
0038814325
-
Y14 and hUpf3b form an NMD-activating complex
-
Gehring NH, Neu-Yilik G, Schell T, Hentze MW, Kulozik AE. Y14 and hUpf3b form an NMD-activating complex. Mol Cell. 2003;11:939-49.
-
(2003)
Mol Cell
, vol.11
, pp. 939-949
-
-
Gehring, N.H.1
Neu-Yilik, G.2
Schell, T.3
Hentze, M.W.4
Kulozik, A.E.5
-
19
-
-
77953370114
-
Insights into the recruitment of the NMD machinery from the crystal structure of a core EJC-UPF3b complex
-
Buchwald G, Ebert J, Basquin C, Sauliere J, Jayachandran U, Bono F, et al. Insights into the recruitment of the NMD machinery from the crystal structure of a core EJC-UPF3b complex. Proc Natl Acad Sci U S A. 2010;107:10050-5.
-
(2010)
Proc Natl Acad Sci U S A
, vol.107
, pp. 10050-10055
-
-
Buchwald, G.1
Ebert, J.2
Basquin, C.3
Sauliere, J.4
Jayachandran, U.5
Bono, F.6
-
20
-
-
84867895950
-
Transcriptome profiling of UPF3B/NMD-deficient lymphoblastoid cells from patients with various forms of intellectual disability
-
Nguyen LS, Jolly L, Shoubridge C, Chan WK, Huang L, Laumonnier F, et al. Transcriptome profiling of UPF3B/NMD-deficient lymphoblastoid cells from patients with various forms of intellectual disability. Mol Psychiatry. 2011;17:1103-15.
-
(2011)
Mol Psychiatry
, vol.17
, pp. 1103-1115
-
-
Nguyen, L.S.1
Jolly, L.2
Shoubridge, C.3
Chan, W.K.4
Huang, L.5
Laumonnier, F.6
-
21
-
-
84887562180
-
The UPF3B gene, implicated in intellectual disability, autism, ADHD and childhood onset schizophrenia regulates neural progenitor cell behaviour and neuronal outgrowth
-
Jolly LA, Homan CC, Jacob R, Barry S, Gecz J. The UPF3B gene, implicated in intellectual disability, autism, ADHD and childhood onset schizophrenia regulates neural progenitor cell behaviour and neuronal outgrowth. Hum Mol Genet. 2013;22:4673-87.
-
(2013)
Hum Mol Genet
, vol.22
, pp. 4673-4687
-
-
Jolly, L.A.1
Homan, C.C.2
Jacob, R.3
Barry, S.4
Gecz, J.5
-
22
-
-
84878888946
-
Regulation of Axon Guidance by Compartmentalized Nonsense-Mediated mRNA Decay
-
Colak D, Ji SJ, Porse BT, Jaffrey SR. Regulation of Axon Guidance by Compartmentalized Nonsense-Mediated mRNA Decay. Cell. 2013;153:1252-65.
-
(2013)
Cell
, vol.153
, pp. 1252-1265
-
-
Colak, D.1
Ji, S.J.2
Porse, B.T.3
Jaffrey, S.R.4
-
23
-
-
84875947761
-
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders
-
Nguyen LS, Kim HG, Rosenfeld JA, Shen Y, Gusella JF, Lacassie Y, et al. Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders. Hum Mol Genet. 2013;22:1816-25.
-
(2013)
Hum Mol Genet
, vol.22
, pp. 1816-1825
-
-
Nguyen, L.S.1
Kim, H.G.2
Rosenfeld, J.A.3
Shen, Y.4
Gusella, J.F.5
Lacassie, Y.6
-
24
-
-
0034704201
-
Human Upf proteins target an mRNA for nonsense-mediated decay when bound downstream of a termination codon
-
Lykke-Andersen J, Shu MD, Steitz JA. Human Upf proteins target an mRNA for nonsense-mediated decay when bound downstream of a termination codon. Cell. 2000;103:1121-31.
-
(2000)
Cell
, vol.103
, pp. 1121-1131
-
-
Lykke-Andersen, J.1
Shu, M.D.2
Steitz, J.A.3
-
25
-
-
0029610078
-
Survival and differentiation of adult neuronal progenitor cells transplanted to the adult brain
-
Gage FH, Coates PW, Palmer TD, Kuhn HG, Fisher LJ, Suhonen JO, et al. Survival and differentiation of adult neuronal progenitor cells transplanted to the adult brain. Proc Natl Acad Sci U S A. 1995;92:11879-83.
-
(1995)
Proc Natl Acad Sci U S A
, vol.92
, pp. 11879-11883
-
-
Gage, F.H.1
Coates, P.W.2
Palmer, T.D.3
Kuhn, H.G.4
Fisher, L.J.5
Suhonen, J.O.6
-
26
-
-
1642603947
-
A Small Modulatory dsRNA Specifies the Fate of Adult Neural Stem Cells
-
Kuwabara T, Hsieh J, Nakashima K, Taira K, Gage FH. A Small Modulatory dsRNA Specifies the Fate of Adult Neural Stem Cells. Cell. 2004;116:779-93.
-
(2004)
Cell
, vol.116
, pp. 779-793
-
-
Kuwabara, T.1
Hsieh, J.2
Nakashima, K.3
Taira, K.4
Gage, F.H.5
-
27
-
-
85028120652
-
Rescue of nonsense mutations by amlexanox in human cells
-
Gonzalez-Hilarion S, Beghyn T, Jia J, Debreuck N, Berte G, Mamchaoui K, et al. Rescue of nonsense mutations by amlexanox in human cells. Orphanet J Rare Dis. 2012;7:58.
-
(2012)
Orphanet J Rare Dis
, vol.7
, pp. 58
-
-
Gonzalez-Hilarion, S.1
Beghyn, T.2
Jia, J.3
Debreuck, N.4
Berte, G.5
Mamchaoui, K.6
-
28
-
-
84903707352
-
Activating Transcription Factor 4 (ATF4) Modulates Post-synaptic Development and Dendritic Spine Morphology
-
Liu J, Pasini S, Shelanski ML, Greene LA. Activating Transcription Factor 4 (ATF4) Modulates Post-synaptic Development and Dendritic Spine Morphology. Front Cell Neurosci. 2014;8:177.
-
(2014)
Front Cell Neurosci
, vol.8
, pp. 177
-
-
Liu, J.1
Pasini, S.2
Shelanski, M.L.3
Greene, L.A.4
-
29
-
-
44349167189
-
Hypoxic Inhibition of Nonsense-Mediated RNA Decay Regulates Gene Expression and the Integrated Stress Response
-
Gardner LB. Hypoxic Inhibition of Nonsense-Mediated RNA Decay Regulates Gene Expression and the Integrated Stress Response. Mol Cell Biol. 2008;28:3729-41.
-
(2008)
Mol Cell Biol
, vol.28
, pp. 3729-3741
-
-
Gardner, L.B.1
-
30
-
-
0030745114
-
Cloning and characterization of HUPF1, a human homolog of the Saccharomyces cerevisiae nonsense mRNA-reducing UPF1 protein
-
Applequist SE, Selg M, Raman C, Jaeck HM. Cloning and characterization of HUPF1, a human homolog of the Saccharomyces cerevisiae nonsense mRNA-reducing UPF1 protein. Nucl Acids Res. 1997;25:814-21.
-
(1997)
Nucl Acids Res
, vol.25
, pp. 814-821
-
-
Applequist, S.E.1
Selg, M.2
Raman, C.3
Jaeck, H.M.4
-
31
-
-
69949191661
-
Aberrant mRNA Transcripts and the Nonsense-Mediated Decay Proteins UPF2 and UPF3 Are Enriched in the Arabidopsis Nucleolus
-
Kim SH, Koroleva OA, Lewandowska D, Pendle AF, Clark GP, Simpson CG, et al. Aberrant mRNA Transcripts and the Nonsense-Mediated Decay Proteins UPF2 and UPF3 Are Enriched in the Arabidopsis Nucleolus. Plant Cell. 2009;21:2045-57.
-
(2009)
Plant Cell
, vol.21
, pp. 2045-2057
-
-
Kim, S.H.1
Koroleva, O.A.2
Lewandowska, D.3
Pendle, A.F.4
Clark, G.P.5
Simpson, C.G.6
-
32
-
-
58149197604
-
NOPdb: Nucleolar Proteome Database-2008 update
-
Ahmad Y, Boisvert FM, Gregor P, Cobley A, Lamond AI. NOPdb: Nucleolar Proteome Database-2008 update. Nucl Acids Res. 2009;37:D181-4.
-
(2009)
Nucl Acids Res
, vol.37
, pp. D181-D184
-
-
Ahmad, Y.1
Boisvert, F.M.2
Gregor, P.3
Cobley, A.4
Lamond, A.I.5
-
33
-
-
67649307109
-
Processing bodies are not required for mammalian nonsense-mediated mRNA decay
-
Stalder L, Muehlemann O. Processing bodies are not required for mammalian nonsense-mediated mRNA decay. RNA. 2009;15:1265-73.
-
(2009)
RNA
, vol.15
, pp. 1265-1273
-
-
Stalder, L.1
Muehlemann, O.2
-
34
-
-
32544454903
-
Nonsense mediated decay induced by tethered human UPF3B is restricted to the cytoplasm
-
Lu S, Cullen BR. Nonsense mediated decay induced by tethered human UPF3B is restricted to the cytoplasm. RNA Biol. 2004;1:42-7.
-
(2004)
RNA Biol
, vol.1
, pp. 42-47
-
-
Lu, S.1
Cullen, B.R.2
-
35
-
-
84896723059
-
Posttranscriptional Control of the Stem Cell and Neurogenic Programs by the Nonsense-Mediated RNA Decay Pathway
-
Lou CH, Shao A, Shum EY, Espinoza JL, Huang L, Karam R, et al. Posttranscriptional Control of the Stem Cell and Neurogenic Programs by the Nonsense-Mediated RNA Decay Pathway. Cell Reports. 2014;6:748-64.
-
(2014)
Cell Reports
, vol.6
, pp. 748-764
-
-
Lou, C.H.1
Shao, A.2
Shum, E.Y.3
Espinoza, J.L.4
Huang, L.5
Karam, R.6
-
36
-
-
1842428190
-
Pathology of Layer v Pyramidal Neurons in the Prefrontal Cortex of Patients with Schizophrenia
-
Black JE, Kodish IM, Grossman AW, Klintsova AY, Orlovskaya D, Vostrikov V, et al. Pathology of Layer V Pyramidal Neurons in the Prefrontal Cortex of Patients With Schizophrenia. Am J Psychiatry. 2004;161:742-4.
-
(2004)
Am J Psychiatry
, vol.161
, pp. 742-744
-
-
Black, J.E.1
Kodish, I.M.2
Grossman, A.W.3
Klintsova, A.Y.4
Orlovskaya, D.5
Vostrikov, V.6
-
37
-
-
0036842250
-
Evidence for a decrease in basilar dendrites of pyramidal cells in schizophrenic medial prefrontal cortex
-
Broadbelt K, Byne W, Jones LB. Evidence for a decrease in basilar dendrites of pyramidal cells in schizophrenic medial prefrontal cortex. Schizophr Res. 2002;58:75-81.
-
(2002)
Schizophr Res
, vol.58
, pp. 75-81
-
-
Broadbelt, K.1
Byne, W.2
Jones, L.B.3
-
38
-
-
0027963287
-
Rett syndrome: 3-D confocal microscopy of cortical pyramidal dendrites and afferents
-
Belichenko PV, Oldfors A, Hagberg B, Dahlstrom A. Rett syndrome: 3-D confocal microscopy of cortical pyramidal dendrites and afferents. Neuroreport. 1994;5:1509-13.
-
(1994)
Neuroreport
, vol.5
, pp. 1509-1513
-
-
Belichenko, P.V.1
Oldfors, A.2
Hagberg, B.3
Dahlstrom, A.4
-
39
-
-
84893599757
-
Developmental and maintenance defects in Rett syndrome neurons identified by a new mouse staging system in vitro
-
Baj G, Patrizio A, Montalbano A, Sciancalepore M, Tongiorgi E. Developmental and maintenance defects in Rett syndrome neurons identified by a new mouse staging system in vitro. Front Cell Neurosci. 2014;8:18.
-
(2014)
Front Cell Neurosci
, vol.8
, pp. 18
-
-
Baj, G.1
Patrizio, A.2
Montalbano, A.3
Sciancalepore, M.4
Tongiorgi, E.5
-
40
-
-
84873097224
-
Timothy syndrome is associated with activity-dependent dendritic retraction in rodent and human neurons
-
Krey JF, Pasca SP, Shcheglovitov A, Yazawa M, Schwemberger R, Rasmusson R, et al. Timothy syndrome is associated with activity-dependent dendritic retraction in rodent and human neurons. Nat Neurosci. 2013;16:201-9.
-
(2013)
Nat Neurosci
, vol.16
, pp. 201-209
-
-
Krey, J.F.1
Pasca, S.P.2
Shcheglovitov, A.3
Yazawa, M.4
Schwemberger, R.5
Rasmusson, R.6
-
41
-
-
34247588271
-
PTC124 targets genetic disorders caused by nonsense mutations
-
Welch EM, Barton ER, Zhuo J, Tomizawa Y, Friesen WJ, Trifillis P, et al. PTC124 targets genetic disorders caused by nonsense mutations. Nature. 2007;447:87-91.
-
(2007)
Nature
, vol.447
, pp. 87-91
-
-
Welch, E.M.1
Barton, E.R.2
Zhuo, J.3
Tomizawa, Y.4
Friesen, W.J.5
Trifillis, P.6
-
42
-
-
4644310115
-
Tethering of human Ago proteins to mRNA mimics the miRNA-mediated repression of protein synthesis
-
Pillai RS, Artus CG, Filipowicz W. Tethering of human Ago proteins to mRNA mimics the miRNA-mediated repression of protein synthesis. RNA. 2004;10:1518-25.
-
(2004)
RNA
, vol.10
, pp. 1518-1525
-
-
Pillai, R.S.1
Artus, C.G.2
Filipowicz, W.3
|