-
1
-
-
84901033525
-
Principles and properties of eukaryotic mRNPs
-
S.F. Mitchell, and R. Parker Principles and properties of eukaryotic mRNPs Mol. Cell 54 2014 547 558
-
(2014)
Mol. Cell
, vol.54
, pp. 547-558
-
-
Mitchell, S.F.1
Parker, R.2
-
2
-
-
0017224213
-
Capping of eucaryotic mRNAs
-
A.J. Shatkin Capping of eucaryotic mRNAs Cell 9 1976 645 653
-
(1976)
Cell
, vol.9
, pp. 645-653
-
-
Shatkin, A.J.1
-
3
-
-
0344622123
-
Spliced segments at the 5′ terminus of adenovirus 2 late mRNA
-
S.M. Berget, C. Moore, and P.A. Sharp Spliced segments at the 5′ terminus of adenovirus 2 late mRNA Proc. Natl. Acad. Sci. U.S.A. 74 1977 3171 3175
-
(1977)
Proc. Natl. Acad. Sci. U.S.A.
, vol.74
, pp. 3171-3175
-
-
Berget, S.M.1
Moore, C.2
Sharp, P.A.3
-
4
-
-
0015071130
-
Polyadenylic acid sequences in the heterogeneous nuclear RNA and rapidly-labeled polyribosomal RNA of HeLa cells: Possible evidence for a precursor relationship
-
M. Edmonds, M.H. Vaughan, and H. Nakazato Polyadenylic acid sequences in the heterogeneous nuclear RNA and rapidly-labeled polyribosomal RNA of HeLa cells: possible evidence for a precursor relationship Proc. Natl. Acad. Sci. U.S.A. 68 1971 1336 1340
-
(1971)
Proc. Natl. Acad. Sci. U.S.A.
, vol.68
, pp. 1336-1340
-
-
Edmonds, M.1
Vaughan, M.H.2
Nakazato, H.3
-
5
-
-
84874972604
-
Coupling pre-mRNA processing to transcription on the RNA factory assembly line
-
K.M. Lee, and W.Y. Tarn Coupling pre-mRNA processing to transcription on the RNA factory assembly line RNA Biol. 10 2013 380 390
-
(2013)
RNA Biol.
, vol.10
, pp. 380-390
-
-
Lee, K.M.1
Tarn, W.Y.2
-
6
-
-
84894318075
-
Coupling mRNA processing with transcription in time and space
-
D.L. Bentley Coupling mRNA processing with transcription in time and space Nat. Rev. Genet. 15 2014 163 175
-
(2014)
Nat. Rev. Genet.
, vol.15
, pp. 163-175
-
-
Bentley, D.L.1
-
7
-
-
79956097915
-
Linking gene regulation to mRNA production and export
-
S. Rodriguez-Navarro, and E. Hurt Linking gene regulation to mRNA production and export Curr. Opin. Cell Biol. 23 2011 302 309
-
(2011)
Curr. Opin. Cell Biol.
, vol.23
, pp. 302-309
-
-
Rodriguez-Navarro, S.1
Hurt, E.2
-
8
-
-
0034672093
-
The spliceosome deposits multiple proteins 20-24 nucleotides upstream of mRNA exon-exon junctions
-
H. Le Hir, E. Izaurralde, L.E. Maquat, and M.J. Moore The spliceosome deposits multiple proteins 20-24 nucleotides upstream of mRNA exon-exon junctions EMBO J. 19 2000 6860 6869
-
(2000)
EMBO J.
, vol.19
, pp. 6860-6869
-
-
Le Hir, H.1
Izaurralde, E.2
Maquat, L.E.3
Moore, M.J.4
-
9
-
-
0037118052
-
TREX is a conserved complex coupling transcription with messenger RNA export
-
K. Strasser TREX is a conserved complex coupling transcription with messenger RNA export Nature 417 2002 304 308
-
(2002)
Nature
, vol.417
, pp. 304-308
-
-
Strasser, K.1
-
10
-
-
60149086205
-
MRNA localization: Gene expression in the spatial dimension
-
K.C. Martin, and A. Ephrussi MRNA localization: gene expression in the spatial dimension Cell 136 2009 719 730
-
(2009)
Cell
, vol.136
, pp. 719-730
-
-
Martin, K.C.1
Ephrussi, A.2
-
11
-
-
0035823036
-
Evidence for a pioneer round of mRNA translation: MRNAs subject to nonsense-mediated decay in mammalian cells are bound by CBP80 and CBP20
-
Y. Ishigaki, X. Li, G. Serin, and L.E. Maquat Evidence for a pioneer round of mRNA translation: mRNAs subject to nonsense-mediated decay in mammalian cells are bound by CBP80 and CBP20 Cell 106 2001 607 617
-
(2001)
Cell
, vol.106
, pp. 607-617
-
-
Ishigaki, Y.1
Li, X.2
Serin, G.3
Maquat, L.E.4
-
13
-
-
17344371397
-
Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy
-
B. Brais Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy Nat. Genet. 18 1998 164 167
-
(1998)
Nat. Genet.
, vol.18
, pp. 164-167
-
-
Brais, B.1
-
14
-
-
84872335060
-
Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex
-
Sandra M. Pasternack Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex Am. J. Hum. Genet. 92 2013 81 87
-
(2013)
Am. J. Hum. Genet.
, vol.92
, pp. 81-87
-
-
Pasternack, S.M.1
-
15
-
-
41149180753
-
TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis
-
J. Sreedharan TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis Science 319 2008 1668 1672
-
(2008)
Science
, vol.319
, pp. 1668-1672
-
-
Sreedharan, J.1
-
16
-
-
80054832080
-
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS
-
M. DeJesus-Hernandez Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS Neuron 72 2011 245 256
-
(2011)
Neuron
, vol.72
, pp. 245-256
-
-
Dejesus-Hernandez, M.1
-
17
-
-
80054837386
-
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
-
A.E. Renton A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD Neuron 72 2011 257 268
-
(2011)
Neuron
, vol.72
, pp. 257-268
-
-
Renton, A.E.1
-
18
-
-
79960779323
-
FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism
-
Jennifer C. Darnell FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism Cell 146 2011 247 261
-
(2011)
Cell
, vol.146
, pp. 247-261
-
-
Darnell, J.C.1
-
19
-
-
0027164698
-
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
-
H.T. Orr Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1 Nat. Genet. 4 1993 221 226
-
(1993)
Nat. Genet.
, vol.4
, pp. 221-226
-
-
Orr, H.T.1
-
20
-
-
0028797783
-
Identification and characterization of a spinal muscular atrophy-determining gene
-
S. Lefebvre Identification and characterization of a spinal muscular atrophy-determining gene Cell 80 1995 155 165
-
(1995)
Cell
, vol.80
, pp. 155-165
-
-
Lefebvre, S.1
-
21
-
-
0031800695
-
SMN oligomerization defect correlates with spinal muscular atrophy severity
-
C.L. Lorson SMN oligomerization defect correlates with spinal muscular atrophy severity Nat. Genet. 19 1998 63 66
-
(1998)
Nat. Genet.
, vol.19
, pp. 63-66
-
-
Lorson, C.L.1
-
22
-
-
0033033434
-
A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy
-
C.L. Lorson, E. Hahnen, E.J. Androphy, and B. Wirth A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy Proc. Natl. Acad. Sci. U.S.A. 96 1999 6307 6311
-
(1999)
Proc. Natl. Acad. Sci. U.S.A.
, vol.96
, pp. 6307-6311
-
-
Lorson, C.L.1
Hahnen, E.2
Androphy, E.J.3
Wirth, B.4
-
23
-
-
0032799998
-
A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2
-
U.R. Monani, C.L. Lorson, D.W. Parsons, T.W. Prior, E.J. Androphy, A.H. Burghes, and J.D. McPherson A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2 Hum. Mol. Genet. 8 1999 1177 1183
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 1177-1183
-
-
Monani, U.R.1
Lorson, C.L.2
Parsons, D.W.3
Prior, T.W.4
Androphy, E.J.5
Burghes, A.H.6
McPherson, J.D.7
-
25
-
-
60349104299
-
The spliceosome: Design principles of a dynamic RNP machine
-
M.C. Wahl, C.L. Will, and R. Luhrmann The spliceosome: design principles of a dynamic RNP machine Cell 136 2009 701 718
-
(2009)
Cell
, vol.136
, pp. 701-718
-
-
Wahl, M.C.1
Will, C.L.2
Luhrmann, R.3
-
26
-
-
0025007910
-
The trimethylguanosine cap structure of U1 snRNA is a component of a bipartite nuclear targeting signal
-
J. Hamm, E. Darzynkiewicz, S.M. Tahara, and I.W. Mattaj The trimethylguanosine cap structure of U1 snRNA is a component of a bipartite nuclear targeting signal Cell 62 1990 569 577
-
(1990)
Cell
, vol.62
, pp. 569-577
-
-
Hamm, J.1
Darzynkiewicz, E.2
Tahara, S.M.3
Mattaj, I.W.4
-
27
-
-
0024999077
-
An essential signaling role for the m3G cap in the transport of U1 snRNP to the nucleus
-
U. Fischer, and R. Luhrmann An essential signaling role for the m3G cap in the transport of U1 snRNP to the nucleus Science 249 1990 786 790
-
(1990)
Science
, vol.249
, pp. 786-790
-
-
Fischer, U.1
Luhrmann, R.2
-
28
-
-
0027396947
-
Nucleo-cytoplasmic transport of U snRNPs: Definition of a nuclear location signal in the Sm core domain that binds a transport receptor independently of the m3G cap
-
U. Fischer, V. Sumpter, M. Sekine, T. Satoh, and R. Luhrmann Nucleo-cytoplasmic transport of U snRNPs: definition of a nuclear location signal in the Sm core domain that binds a transport receptor independently of the m3G cap EMBO J. 12 1993 573 583
-
(1993)
EMBO J.
, vol.12
, pp. 573-583
-
-
Fischer, U.1
Sumpter, V.2
Sekine, M.3
Satoh, T.4
Luhrmann, R.5
-
30
-
-
0030928716
-
The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis
-
U. Fischer, Q. Liu, and G. Dreyfuss The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis Cell 90 1997 1023 1029
-
(1997)
Cell
, vol.90
, pp. 1023-1029
-
-
Fischer, U.1
Liu, Q.2
Dreyfuss, G.3
-
31
-
-
0035735484
-
A multiprotein complex mediates the ATP-dependent assembly of spliceosomal U snRNPs
-
G. Meister, D. Buhler, R. Pillai, F. Lottspeich, and U. Fischer A multiprotein complex mediates the ATP-dependent assembly of spliceosomal U snRNPs Nat. Cell Biol. 3 2001 945 949
-
(2001)
Nat. Cell Biol.
, vol.3
, pp. 945-949
-
-
Meister, G.1
Buhler, D.2
Pillai, R.3
Lottspeich, F.4
Fischer, U.5
-
32
-
-
2242443509
-
Essential role for the SMN complex in the specificity of snRNP assembly
-
L. Pellizzoni, J. Yong, and G. Dreyfuss Essential role for the SMN complex in the specificity of snRNP assembly Science 298 2002 1775 1779
-
(2002)
Science
, vol.298
, pp. 1775-1779
-
-
Pellizzoni, L.1
Yong, J.2
Dreyfuss, G.3
-
33
-
-
54549102220
-
An assembly chaperone collaborates with the SMN complex to generate spliceosomal SnRNPs
-
A. Chari An assembly chaperone collaborates with the SMN complex to generate spliceosomal SnRNPs Cell 135 2008 497 509
-
(2008)
Cell
, vol.135
, pp. 497-509
-
-
Chari, A.1
-
34
-
-
25844461744
-
Reduced U snRNP assembly causes motor axon degeneration in an animal model for spinal muscular atrophy
-
C. Winkler, C. Eggert, D. Gradl, G. Meister, M. Giegerich, D. Wedlich, B. Laggerbauer, and U. Fischer Reduced U snRNP assembly causes motor axon degeneration in an animal model for spinal muscular atrophy Genes Dev. 19 2005 2320 2330
-
(2005)
Genes Dev.
, vol.19
, pp. 2320-2330
-
-
Winkler, C.1
Eggert, C.2
Gradl, D.3
Meister, G.4
Giegerich, M.5
Wedlich, D.6
Laggerbauer, B.7
Fischer, U.8
-
35
-
-
28444454020
-
Gemin proteins are required for efficient assembly of Sm-class ribonucleoproteins
-
K.B. Shpargel, and A.G. Matera Gemin proteins are required for efficient assembly of Sm-class ribonucleoproteins Proc. Natl. Acad. Sci. U.S.A. 102 2005 17372 17377
-
(2005)
Proc. Natl. Acad. Sci. U.S.A.
, vol.102
, pp. 17372-17377
-
-
Shpargel, K.B.1
Matera, A.G.2
-
36
-
-
41549119007
-
Ribonucleoprotein assembly defects correlate with spinal muscular atrophy severity and preferentially affect a subset of spliceosomal snRNPs
-
F. Gabanella, M.E. Butchbach, L. Saieva, C. Carissimi, A.H. Burghes, and L. Pellizzoni Ribonucleoprotein assembly defects correlate with spinal muscular atrophy severity and preferentially affect a subset of spliceosomal snRNPs PLoS ONE 2 2007 e921
-
(2007)
PLoS ONE
, vol.2
, pp. e921
-
-
Gabanella, F.1
Butchbach, M.E.2
Saieva, L.3
Carissimi, C.4
Burghes, A.H.5
Pellizzoni, L.6
-
37
-
-
43049168361
-
SMN deficiency causes tissue-specific perturbations in the repertoire of snRNAs and widespread defects in splicing
-
Z. Zhang, F. Lotti, K. Dittmar, I. Younis, L. Wan, M. Kasim, and G. Dreyfuss SMN deficiency causes tissue-specific perturbations in the repertoire of snRNAs and widespread defects in splicing Cell 133 2008 585 600
-
(2008)
Cell
, vol.133
, pp. 585-600
-
-
Zhang, Z.1
Lotti, F.2
Dittmar, K.3
Younis, I.4
Wan, L.5
Kasim, M.6
Dreyfuss, G.7
-
38
-
-
74249094999
-
Alternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophy
-
D. Baumer Alternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophy PLoS Genet. 5 2009 e1000773
-
(2009)
PLoS Genet.
, vol.5
-
-
Baumer, D.1
-
39
-
-
78751685185
-
Impaired minor tri-snRNP assembly generates differential splicing defects of U12-type introns in lymphoblasts derived from a type i SMA patient
-
N. Boulisfane, M. Choleza, F. Rage, H. Neel, J. Soret, and R. Bordonne Impaired minor tri-snRNP assembly generates differential splicing defects of U12-type introns in lymphoblasts derived from a type I SMA patient Hum. Mol. Genet. 20 2011 641 648
-
(2011)
Hum. Mol. Genet.
, vol.20
, pp. 641-648
-
-
Boulisfane, N.1
Choleza, M.2
Rage, F.3
Neel, H.4
Soret, J.5
Bordonne, R.6
-
40
-
-
84867555865
-
An SMN-dependent U12 splicing event essential for motor circuit function
-
F. Lotti An SMN-dependent U12 splicing event essential for motor circuit function Cell 151 2012 440 454
-
(2012)
Cell
, vol.151
, pp. 440-454
-
-
Lotti, F.1
-
41
-
-
84888375636
-
Dysregulation of synaptogenesis genes antecedes motor neuron pathology in spinal muscular atrophy
-
Z. Zhang Dysregulation of synaptogenesis genes antecedes motor neuron pathology in spinal muscular atrophy Proc. Natl. Acad. Sci. U.S.A. 110 2013 19348 19353
-
(2013)
Proc. Natl. Acad. Sci. U.S.A.
, vol.110
, pp. 19348-19353
-
-
Zhang, Z.1
-
42
-
-
84863114222
-
A Drosophila model of spinal muscular atrophy uncouples snRNP biogenesis functions of survival motor neuron from locomotion and viability defects
-
K. Praveen, Y. Wen, and A.G. Matera A Drosophila model of spinal muscular atrophy uncouples snRNP biogenesis functions of survival motor neuron from locomotion and viability defects Cell Rep. 1 2012 624 631
-
(2012)
Cell Rep.
, vol.1
, pp. 624-631
-
-
Praveen, K.1
Wen, Y.2
Matera, A.G.3
-
43
-
-
84867511739
-
SMN is required for sensory-motor circuit function in Drosophila
-
W.L. Imlach, E.S. Beck, B.J. Choi, F. Lotti, L. Pellizzoni, and B.D. McCabe SMN is required for sensory-motor circuit function in Drosophila Cell 151 2012 427 439
-
(2012)
Cell
, vol.151
, pp. 427-439
-
-
Imlach, W.L.1
Beck, E.S.2
Choi, B.J.3
Lotti, F.4
Pellizzoni, L.5
McCabe, B.D.6
-
44
-
-
84886048721
-
Developmental arrest of Drosophila survival motor neuron (Smn) mutants accounts for differences in expression of minor intron-containing genes
-
E.L. Garcia, Z. Lu, M.P. Meers, K. Praveen, and A.G. Matera Developmental arrest of Drosophila survival motor neuron (Smn) mutants accounts for differences in expression of minor intron-containing genes RNA 19 2013 1510 1516
-
(2013)
RNA
, vol.19
, pp. 1510-1516
-
-
Garcia, E.L.1
Lu, Z.2
Meers, M.P.3
Praveen, K.4
Matera, A.G.5
-
45
-
-
0036154096
-
Specific interaction of Smn, the spinal muscular atrophy determining gene product, with hnRNP-R and gry-rbp/hnRNP-Q: A role for Smn in RNA processing in motor axons?
-
W. Rossoll, A.K. Kroning, U.M. Ohndorf, C. Steegborn, S. Jablonka, and M. Sendtner Specific interaction of Smn, the spinal muscular atrophy determining gene product, with hnRNP-R and gry-rbp/hnRNP-Q: a role for Smn in RNA processing in motor axons? Hum. Mol. Genet. 11 2002 93 105
-
(2002)
Hum. Mol. Genet.
, vol.11
, pp. 93-105
-
-
Rossoll, W.1
Kroning, A.K.2
Ohndorf, U.M.3
Steegborn, C.4
Jablonka, S.5
Sendtner, M.6
-
46
-
-
0345599021
-
Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of beta-actin mRNA in growth cones of motoneurons
-
W. Rossoll, S. Jablonka, C. Andreassi, A.K. Kroning, K. Karle, U.R. Monani, and M. Sendtner Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of beta-actin mRNA in growth cones of motoneurons J. Cell Biol. 163 2003 801 812
-
(2003)
J. Cell Biol.
, vol.163
, pp. 801-812
-
-
Rossoll, W.1
Jablonka, S.2
Andreassi, C.3
Kroning, A.K.4
Karle, K.5
Monani, U.R.6
Sendtner, M.7
-
47
-
-
79952390939
-
The survival of motor neuron (SMN) protein interacts with the mRNA-binding protein HuD and regulates localization of poly(A) mRNA in primary motor neuron axons
-
C. Fallini, H. Zhang, Y. Su, V. Silani, R.H. Singer, W. Rossoll, and G.J. Bassell The survival of motor neuron (SMN) protein interacts with the mRNA-binding protein HuD and regulates localization of poly(A) mRNA in primary motor neuron axons J. Neurosci. 31 2011 3914 3925
-
(2011)
J. Neurosci.
, vol.31
, pp. 3914-3925
-
-
Fallini, C.1
Zhang, H.2
Su, Y.3
Silani, V.4
Singer, R.H.5
Rossoll, W.6
Bassell, G.J.7
-
48
-
-
84862145991
-
Spinal muscular atrophy: The role of SMN in axonal mRNA regulation
-
C. Fallini, G.J. Bassell, and W. Rossoll Spinal muscular atrophy: the role of SMN in axonal mRNA regulation Brain Res. 1462 2012 81 92
-
(2012)
Brain Res.
, vol.1462
, pp. 81-92
-
-
Fallini, C.1
Bassell, G.J.2
Rossoll, W.3
-
49
-
-
17944379537
-
A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11)
-
E.N. Vithana A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11) Mol. Cell 8 2001 375 381
-
(2001)
Mol. Cell
, vol.8
, pp. 375-381
-
-
Vithana, E.N.1
-
50
-
-
18244377189
-
Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa
-
C.F. Chakarova Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa Hum. Mol. Genet. 11 2002 87 92
-
(2002)
Hum. Mol. Genet.
, vol.11
, pp. 87-92
-
-
Chakarova, C.F.1
-
51
-
-
71849087061
-
Autosomal-dominant retinitis pigmentosa caused by a mutation in SNRNP200, a gene required for unwinding of U4/U6 snRNAs
-
C. Zhao Autosomal-dominant retinitis pigmentosa caused by a mutation in SNRNP200, a gene required for unwinding of U4/U6 snRNAs Am. J. Hum. Genet. 85 2009 617 627
-
(2009)
Am. J. Hum. Genet.
, vol.85
, pp. 617-627
-
-
Zhao, C.1
-
52
-
-
0035878541
-
Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13)
-
A.B. McKie Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13) Hum. Mol. Genet. 10 2001 1555 1562
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 1555-1562
-
-
McKie, A.B.1
-
53
-
-
79955832411
-
A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa
-
G. Tanackovic, A. Ransijn, C. Ayuso, S. Harper, E.L. Berson, and C. Rivolta A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa Am. J. Hum. Genet. 88 2011 643 649
-
(2011)
Am. J. Hum. Genet.
, vol.88
, pp. 643-649
-
-
Tanackovic, G.1
Ransijn, A.2
Ayuso, C.3
Harper, S.4
Berson, E.L.5
Rivolta, C.6
-
54
-
-
84899915430
-
PRPF4 mutations cause autosomal dominant retinitis pigmentosa
-
X. Chen PRPF4 mutations cause autosomal dominant retinitis pigmentosa Hum. Mol. Genet. 23 2014 2926 2939
-
(2014)
Hum. Mol. Genet.
, vol.23
, pp. 2926-2939
-
-
Chen, X.1
-
55
-
-
84910663734
-
Identification of a PRPF4 loss-of-function variant that abrogates U4/U6.U5 tri-snRNP integration and is associated with retinitis pigmentosa
-
B. Linder, A. Hirmer, A. Gal, K. Rüther, H.J. Bolz, C. Winkler, B. Laggerbauer, and U. Fischer Identification of a PRPF4 loss-of-function variant that abrogates U4/U6.U5 tri-snRNP integration and is associated with retinitis pigmentosa PLoS ONE 9 2014 e111754
-
(2014)
PLoS ONE
, vol.9
-
-
Linder, B.1
Hirmer, A.2
Gal, A.3
Rüther, K.4
Bolz, H.J.5
Winkler, C.6
Laggerbauer, B.7
Fischer, U.8
-
56
-
-
84902549077
-
A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma
-
M. Ajmal A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma J. Med. Genet. 51 2014 444 448
-
(2014)
J. Med. Genet.
, vol.51
, pp. 444-448
-
-
Ajmal, M.1
-
58
-
-
0032488860
-
A spliceosomal recycling factor that reanneals U4 and U6 small nuclear ribonucleoprotein particles
-
P.L. Raghunathan, and C. Guthrie A spliceosomal recycling factor that reanneals U4 and U6 small nuclear ribonucleoprotein particles Science 279 1998 857 860
-
(1998)
Science
, vol.279
, pp. 857-860
-
-
Raghunathan, P.L.1
Guthrie, C.2
-
59
-
-
0022907583
-
The yeast RNA gene products are essential for mRNA splicing in vitro
-
A.J. Lustig, R.J. Lin, and J. Abelson The yeast RNA gene products are essential for mRNA splicing in vitro Cell 47 1986 953 963
-
(1986)
Cell
, vol.47
, pp. 953-963
-
-
Lustig, A.J.1
Lin, R.J.2
Abelson, J.3
-
60
-
-
79955864211
-
PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa
-
G. Tanackovic, A. Ransijn, P. Thibault, S. Abou Elela, R. Klinck, E.L. Berson, B. Chabot, and C. Rivolta PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa Hum. Mol. Genet. 20 2011 2116 2130
-
(2011)
Hum. Mol. Genet.
, vol.20
, pp. 2116-2130
-
-
Tanackovic, G.1
Ransijn, A.2
Thibault, P.3
Abou Elela, S.4
Klinck, R.5
Berson, E.L.6
Chabot, B.7
Rivolta, C.8
-
61
-
-
25144518096
-
Focus on molecules: Rhodopsin
-
O.G. Kisselev Focus on molecules: rhodopsin Exp. Eye Res. 81 2005 366 367
-
(2005)
Exp. Eye Res.
, vol.81
, pp. 366-367
-
-
Kisselev, O.G.1
-
62
-
-
12744278348
-
Mutations in PRPF31 inhibit pre-mRNA splicing of rhodopsin gene and cause apoptosis of retinal cells
-
L. Yuan, M. Kawada, N. Havlioglu, H. Tang, and J.Y. Wu Mutations in PRPF31 inhibit pre-mRNA splicing of rhodopsin gene and cause apoptosis of retinal cells J. Neurosci. 25 2005 748 757
-
(2005)
J. Neurosci.
, vol.25
, pp. 748-757
-
-
Yuan, L.1
Kawada, M.2
Havlioglu, N.3
Tang, H.4
Wu, J.Y.5
-
63
-
-
42649144148
-
Disease mechanism for retinitis pigmentosa (RP11) caused by missense mutations in the splicing factor gene PRPF31
-
S.E. Wilkie, V. Vaclavik, H. Wu, K. Bujakowska, C.F. Chakarova, S.S. Bhattacharya, M.J. Warren, and D.M. Hunt Disease mechanism for retinitis pigmentosa (RP11) caused by missense mutations in the splicing factor gene PRPF31 Mol. Vis. 14 2008 683 690
-
(2008)
Mol. Vis.
, vol.14
, pp. 683-690
-
-
Wilkie, S.E.1
Vaclavik, V.2
Wu, H.3
Bujakowska, K.4
Chakarova, C.F.5
Bhattacharya, S.S.6
Warren, M.J.7
Hunt, D.M.8
-
64
-
-
78650537047
-
Systemic splicing factor deficiency causes tissue-specific defects: A zebrafish model for retinitis pigmentosa
-
B. Linder Systemic splicing factor deficiency causes tissue-specific defects: a zebrafish model for retinitis pigmentosa Hum. Mol. Genet. 20 2011 368 377
-
(2011)
Hum. Mol. Genet.
, vol.20
, pp. 368-377
-
-
Linder, B.1
-
65
-
-
0028822110
-
The rhodopsin-encoding gene of bony fish lacks introns
-
J. Fitzgibbon, A. Hope, S.J. Slobodyanyuk, J. Bellingham, J.K. Bowmaker, and D.M. Hunt The rhodopsin-encoding gene of bony fish lacks introns Gene 164 1995 273 277
-
(1995)
Gene
, vol.164
, pp. 273-277
-
-
Fitzgibbon, J.1
Hope, A.2
Slobodyanyuk, S.J.3
Bellingham, J.4
Bowmaker, J.K.5
Hunt, D.M.6
-
66
-
-
84922473321
-
Mutations in pre-mRNA processing factors 3, 8, and 31 cause dysfunction of the retinal pigment epithelium
-
M.H. Farkas, D.S. Lew, M.E. Sousa, K. Bujakowska, J. Chatagnon, S.S. Bhattacharya, E.A. Pierce, and E.F. Nandrot Mutations in pre-mRNA processing factors 3, 8, and 31 cause dysfunction of the retinal pigment epithelium Am. J. Pathol. 184 2014 2641 2652
-
(2014)
Am. J. Pathol.
, vol.184
, pp. 2641-2652
-
-
Farkas, M.H.1
Lew, D.S.2
Sousa, M.E.3
Bujakowska, K.4
Chatagnon, J.5
Bhattacharya, S.S.6
Pierce, E.A.7
Nandrot, E.F.8
-
67
-
-
33750394118
-
Pre-mRNA splicing and retinitis pigmentosa
-
D. Mordes Pre-mRNA splicing and retinitis pigmentosa Mol. Vis. 12 2006 1259 1271
-
(2006)
Mol. Vis.
, vol.12
, pp. 1259-1271
-
-
Mordes, D.1
-
68
-
-
33749057696
-
Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease
-
M. Khajavi, K. Inoue, and J.R. Lupski Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease Eur. J. Hum. Genet. 14 2006 1074 1081
-
(2006)
Eur. J. Hum. Genet.
, vol.14
, pp. 1074-1081
-
-
Khajavi, M.1
Inoue, K.2
Lupski, J.R.3
-
70
-
-
84867232894
-
Human CWC22 escorts the helicase eIF4AIII to spliceosomes and promotes exon junction complex assembly
-
I. Barbosa, N. Haque, F. Fiorini, C. Barrandon, C. Tomasetto, M. Blanchette, and H. Le Hir Human CWC22 escorts the helicase eIF4AIII to spliceosomes and promotes exon junction complex assembly Nat. Struct. Mol. Biol. 19 2012 983 990
-
(2012)
Nat. Struct. Mol. Biol.
, vol.19
, pp. 983-990
-
-
Barbosa, I.1
Haque, N.2
Fiorini, F.3
Barrandon, C.4
Tomasetto, C.5
Blanchette, M.6
Le Hir, H.7
-
71
-
-
84871825274
-
Human spliceosomal protein CWC22 plays a role in coupling splicing to exon junction complex deposition and nonsense-mediated decay
-
A. Alexandrov, D. Colognori, M.D. Shu, and J.A. Steitz Human spliceosomal protein CWC22 plays a role in coupling splicing to exon junction complex deposition and nonsense-mediated decay Proc. Natl. Acad. Sci. U.S.A. 109 2012 21313 21318
-
(2012)
Proc. Natl. Acad. Sci. U.S.A.
, vol.109
, pp. 21313-21318
-
-
Alexandrov, A.1
Colognori, D.2
Shu, M.D.3
Steitz, J.A.4
-
72
-
-
84930276132
-
CWC22-dependent pre-mRNA splicing and eIF4A3 binding enables global deposition of exon junction complexes
-
A.L. Steckelberg, J. Altmueller, C. Dieterich, and N.H. Gehring CWC22-dependent pre-mRNA splicing and eIF4A3 binding enables global deposition of exon junction complexes Nucleic Acids Res. 2015 http://dx.doi.org/10.1093/nar/gkv320
-
(2015)
Nucleic Acids Res.
-
-
Steckelberg, A.L.1
Altmueller, J.2
Dieterich, C.3
Gehring, N.H.4
-
73
-
-
38349138834
-
Regulation of alternative splicing: More than just the ABCs
-
A.E. House, and K.W. Lynch Regulation of alternative splicing: more than just the ABCs J. Biol. Chem. 283 2008 1217 1221
-
(2008)
J. Biol. Chem.
, vol.283
, pp. 1217-1221
-
-
House, A.E.1
Lynch, K.W.2
-
74
-
-
84857422448
-
Dynamic protein-protein interaction wiring of the human spliceosome
-
A. Hegele Dynamic protein-protein interaction wiring of the human spliceosome Mol. Cell 45 2012 567 580
-
(2012)
Mol. Cell
, vol.45
, pp. 567-580
-
-
Hegele, A.1
-
75
-
-
0019971687
-
On the heredity of retinitis pigmentosa
-
M. Jay On the heredity of retinitis pigmentosa Br. J. Ophthalmol. 66 1982 405 416
-
(1982)
Br. J. Ophthalmol.
, vol.66
, pp. 405-416
-
-
Jay, M.1
-
76
-
-
0036482801
-
Epidemiology of retinitis pigmentosa in Denmark
-
M. Haim Epidemiology of retinitis pigmentosa in Denmark Acta Ophthalmol. Scand. Suppl. 2002 1 34
-
(2002)
Acta Ophthalmol. Scand. Suppl.
, pp. 1-34
-
-
Haim, M.1
-
77
-
-
53149140273
-
Decreased levels of the RNA splicing factor Prpf3 in mice and zebrafish do not cause photoreceptor degeneration
-
J.J. Graziotto, C.F. Inglehearn, M.A. Pack, and E.A. Pierce Decreased levels of the RNA splicing factor Prpf3 in mice and zebrafish do not cause photoreceptor degeneration Invest. Ophthalmol. Vis. Sci. 49 2008 3830 3838
-
(2008)
Invest. Ophthalmol. Vis. Sci.
, vol.49
, pp. 3830-3838
-
-
Graziotto, J.J.1
Inglehearn, C.F.2
Pack, M.A.3
Pierce, E.A.4
-
78
-
-
73349099044
-
Study of gene-targeted mouse models of splicing factor gene Prpf31 implicated in human autosomal dominant retinitis pigmentosa (RP)
-
K. Bujakowska Study of gene-targeted mouse models of splicing factor gene Prpf31 implicated in human autosomal dominant retinitis pigmentosa (RP) Invest. Ophthalmol. Vis. Sci. 50 2009 5927 5933
-
(2009)
Invest. Ophthalmol. Vis. Sci.
, vol.50
, pp. 5927-5933
-
-
Bujakowska, K.1
-
79
-
-
0028245437
-
Digenic retinitis-pigmentosa due to mutations at the unlinked peripherin/Rds and Rom1 Loci
-
K. Kajiwara, E.L. Berson, and T.P. Dryja Digenic retinitis-pigmentosa due to mutations at the unlinked peripherin/Rds and Rom1 Loci Science 264 1994 1604 1608
-
(1994)
Science
, vol.264
, pp. 1604-1608
-
-
Kajiwara, K.1
Berson, E.L.2
Dryja, T.P.3
-
80
-
-
0036787307
-
Beyond mendel: An evolving view of human genetic disease transmission
-
J.L. Badano, and N. Katsanis Beyond mendel: an evolving view of human genetic disease transmission Nat. Rev. Genet. 3 2002 779 789
-
(2002)
Nat. Rev. Genet.
, vol.3
, pp. 779-789
-
-
Badano, J.L.1
Katsanis, N.2
-
81
-
-
1842579395
-
The oligogenic properties of Bardet-Biedl syndrome
-
N. Katsanis The oligogenic properties of Bardet-Biedl syndrome Hum. Mol. Genet. 13 Spec No. 1 2004 R65 R71
-
(2004)
Hum. Mol. Genet.
, vol.13
, pp. R65-R71
-
-
Katsanis, N.1
-
82
-
-
77949904260
-
Nonsense-mediated mRNA decay in human cells: Mechanistic insights, functions beyond quality control and the double-life of NMD factors
-
P. Nicholson, H. Yepiskoposyan, S. Metze, R. Zamudio Orozco, N. Kleinschmidt, and O. Muhlemann Nonsense-mediated mRNA decay in human cells: mechanistic insights, functions beyond quality control and the double-life of NMD factors Cell. Mol. Life Sci. 67 2010 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
Muhlemann, O.6
-
83
-
-
84867850145
-
NMD: A multifaceted response to premature translational termination
-
S. Kervestin, and A. Jacobson NMD: a multifaceted response to premature translational termination Nat. Rev. Mol. Cell Biol. 13 2012 700 712
-
(2012)
Nat. Rev. Mol. Cell Biol.
, vol.13
, pp. 700-712
-
-
Kervestin, S.1
Jacobson, A.2
-
84
-
-
84885356907
-
The SMG5-SMG7 heterodimer directly recruits the CCR4-NOT deadenylase complex to mRNAs containing nonsense codons via interaction with POP2
-
B. Loh, S. Jonas, and E. Izaurralde The SMG5-SMG7 heterodimer directly recruits the CCR4-NOT deadenylase complex to mRNAs containing nonsense codons via interaction with POP2 Genes Dev. 27 2013 2125 2138
-
(2013)
Genes Dev.
, vol.27
, pp. 2125-2138
-
-
Loh, B.1
Jonas, S.2
Izaurralde, E.3
-
85
-
-
0034704201
-
Human Upf proteins target an mRNA for nonsense-mediated decay when bound downstream of a termination codon
-
J. Lykke-Andersen, M.D. Shu, and J.A. Steitz Human Upf proteins target an mRNA for nonsense-mediated decay when bound downstream of a termination codon Cell 103 2000 1121 1131
-
(2000)
Cell
, vol.103
, pp. 1121-1131
-
-
Lykke-Andersen, J.1
Shu, M.D.2
Steitz, J.A.3
-
86
-
-
77953370114
-
Insights into the recruitment of the NMD machinery from the crystal structure of a core EJC-UPF3b complex
-
G. Buchwald, J. Ebert, C. Basquin, J. Sauliere, U. Jayachandran, F. Bono, H. Le Hir, and E. Conti 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. 107 2010 10050 10055
-
(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
Le Hir, H.7
Conti, E.8
-
87
-
-
85011942476
-
Assembly, disassembly and recycling: The dynamics of exon junction complexes
-
F. Bono, and N.H. Gehring Assembly, disassembly and recycling: the dynamics of exon junction complexes RNA Biol. 8 2011 24 29
-
(2011)
RNA Biol.
, vol.8
, pp. 24-29
-
-
Bono, F.1
Gehring, N.H.2
-
88
-
-
79952686670
-
Molecular mechanisms for the RNA-dependent ATPase activity of Upf1 and its regulation by Upf2
-
S. Chakrabarti, U. Jayachandran, F. Bonneau, F. Fiorini, C. Basquin, S. Domcke, H. Le Hir, and E. Conti Molecular mechanisms for the RNA-dependent ATPase activity of Upf1 and its regulation by Upf2 Mol. Cell 41 2011 693 703
-
(2011)
Mol. Cell
, vol.41
, pp. 693-703
-
-
Chakrabarti, S.1
Jayachandran, U.2
Bonneau, F.3
Fiorini, F.4
Basquin, C.5
Domcke, S.6
Le Hir, H.7
Conti, E.8
-
89
-
-
0034751160
-
Identification and characterization of human orthologues to Saccharomyces cerevisiae Upf2 protein and Upf3 protein (Caenorhabditis elegans SMG-4)
-
G. Serin, A. Gersappe, J.D. Black, R. Aronoff, and L.E. Maquat Identification and characterization of human orthologues to Saccharomyces cerevisiae Upf2 protein and Upf3 protein (Caenorhabditis elegans SMG-4) Mol. Cell. Biol. 21 2001 209 223
-
(2001)
Mol. Cell. Biol.
, vol.21
, pp. 209-223
-
-
Serin, G.1
Gersappe, A.2
Black, J.D.3
Aronoff, R.4
Maquat, L.E.5
-
90
-
-
0035862813
-
Rent1, a trans-effector of nonsense-mediated mRNA decay, is essential for mammalian embryonic viability
-
S.M. Medghalchi, P.A. Frischmeyer, J.T. Mendell, A.G. Kelly, A.M. Lawler, and H.C. Dietz Rent1, a trans-effector of nonsense-mediated mRNA decay, is essential for mammalian embryonic viability Hum. Mol. Genet. 10 2001 99 105
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 99-105
-
-
Medghalchi, S.M.1
Frischmeyer, P.A.2
Mendell, J.T.3
Kelly, A.G.4
Lawler, A.M.5
Dietz, H.C.6
-
91
-
-
44149104364
-
NMD is essential for hematopoietic stem and progenitor cells and for eliminating by-products of programmed DNA rearrangements
-
J. Weischenfeldt NMD is essential for hematopoietic stem and progenitor cells and for eliminating by-products of programmed DNA rearrangements Genes Dev. 22 2008 1381 1396
-
(2008)
Genes Dev.
, vol.22
, pp. 1381-1396
-
-
Weischenfeldt, J.1
-
92
-
-
33646865949
-
Functions of hUpf3a and hUpf3b in nonsense-mediated mRNA decay and translation
-
J.B. Kunz, G. Neu-Yilik, M.W. Hentze, A.E. Kulozik, and N.H. Gehring Functions of hUpf3a and hUpf3b in nonsense-mediated mRNA decay and translation RNA 12 2006 1015 1022
-
(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
-
93
-
-
67650330563
-
A UPF3-mediated regulatory switch that maintains RNA surveillance
-
W.K. Chan, A.D. Bhalla, H. Le Hir, L.S. Nguyen, L. Huang, J. Gecz, and M.F. Wilkinson A UPF3-mediated regulatory switch that maintains RNA surveillance Nat. Struct. Mol. Biol. 16 2009 747 753
-
(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
Wilkinson, M.F.7
-
94
-
-
34548353924
-
Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation
-
P.S. Tarpey Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation Nat. Genet. 39 2007 1127 1133
-
(2007)
Nat. Genet.
, vol.39
, pp. 1127-1133
-
-
Tarpey, P.S.1
-
95
-
-
77953914253
-
Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism
-
F. Laumonnier 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 15 2010 767 776
-
(2010)
Mol. Psychiatry
, vol.15
, pp. 767-776
-
-
Laumonnier, F.1
-
96
-
-
79951814161
-
A novel frameshift mutation in UPF3B identified in brothers affected with childhood onset schizophrenia and autism spectrum disorders
-
A.M. Addington A novel frameshift mutation in UPF3B identified in brothers affected with childhood onset schizophrenia and autism spectrum disorders Mol. Psychiatry 16 2011 238 239
-
(2011)
Mol. Psychiatry
, vol.16
, pp. 238-239
-
-
Addington, A.M.1
-
97
-
-
84864123489
-
Broadening the phenotype associated with mutations in UPF3B: Two further cases with renal dysplasia and variable developmental delay
-
S.A. Lynch, L.S. Nguyen, L.Y. Ng, M. Waldron, D. McDonald, and J. Gecz Broadening the phenotype associated with mutations in UPF3B: two further cases with renal dysplasia and variable developmental delay Eur. J. Med. Genet. 55 2012 476 479
-
(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
-
98
-
-
84876814034
-
Exome sequencing identifies UPF3B as the causative gene for a Chinese non-syndrome mental retardation pedigree
-
X. Xu Exome sequencing identifies UPF3B as the causative gene for a Chinese non-syndrome mental retardation pedigree Clin. Genet. 83 2013 560 564
-
(2013)
Clin. Genet.
, vol.83
, pp. 560-564
-
-
Xu, X.1
-
99
-
-
84867895950
-
Transcriptome profiling of UPF3B/NMD-deficient lymphoblastoid cells from patients with various forms of intellectual disability
-
L.S. Nguyen Transcriptome profiling of UPF3B/NMD-deficient lymphoblastoid cells from patients with various forms of intellectual disability Mol. Psychiatry 17 2012 1103 1115
-
(2012)
Mol. Psychiatry
, vol.17
, pp. 1103-1115
-
-
Nguyen, L.S.1
-
100
-
-
84875947761
-
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders
-
L.S. Nguyen Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders Hum. Mol. Genet. 22 2013 1816 1825
-
(2013)
Hum. Mol. Genet.
, vol.22
, pp. 1816-1825
-
-
Nguyen, L.S.1
-
101
-
-
84881193129
-
Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network
-
S. Gulsuner Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network Cell 154 2013 518 529
-
(2013)
Cell
, vol.154
, pp. 518-529
-
-
Gulsuner, S.1
-
102
-
-
84909642803
-
Nonsense-mediated mRNA decay: Inter-individual variability and human disease
-
L.S. Nguyen, M.F. Wilkinson, and J. Gecz Nonsense-mediated mRNA decay: inter-individual variability and human disease Neurosci. Biobehav. Rev. 46 Pt 2 2014 175 186
-
(2014)
Neurosci. Biobehav. Rev.
, vol.46
, pp. 175-186
-
-
Nguyen, L.S.1
Wilkinson, M.F.2
Gecz, J.3
-
103
-
-
84909987005
-
UPF3B gene and nonsense-mediated mRNA decay in autism spectrum disorders
-
V.B. Patel, V.R. Preedy, C.R. Martin, Springer New York
-
F. Laumonnier, L. Nguyen, L. Jolly, M. Raynaud, and J. Gecz UPF3B gene and nonsense-mediated mRNA decay in autism spectrum disorders V.B. Patel, V.R. Preedy, C.R. Martin, Comprehensive Guide to Autism 2014 Springer New York 1663 1678
-
(2014)
Comprehensive Guide to Autism
, pp. 1663-1678
-
-
Laumonnier, F.1
Nguyen, L.2
Jolly, L.3
Raynaud, M.4
Gecz, J.5
-
104
-
-
34447092677
-
The EJC factor eIF4AIII modulates synaptic strength and neuronal protein expression
-
C. Giorgi, G.W. Yeo, M.E. Stone, D.B. Katz, C. Burge, G. Turrigiano, and M.J. Moore The EJC factor eIF4AIII modulates synaptic strength and neuronal protein expression Cell 130 2007 179 191
-
(2007)
Cell
, vol.130
, pp. 179-191
-
-
Giorgi, C.1
Yeo, G.W.2
Stone, M.E.3
Katz, D.B.4
Burge, C.5
Turrigiano, G.6
Moore, M.J.7
-
105
-
-
78650680152
-
Characterization of the proteome, diseases and evolution of the human postsynaptic density
-
A. Bayes, L.N. van de Lagemaat, M.O. Collins, M.D. Croning, I.R. Whittle, J.S. Choudhary, and S.G. Grant Characterization of the proteome, diseases and evolution of the human postsynaptic density Nat. Neurosci. 14 2011 19 21
-
(2011)
Nat. Neurosci.
, vol.14
, pp. 19-21
-
-
Bayes, A.1
Van De Lagemaat, L.N.2
Collins, M.O.3
Croning, M.D.4
Whittle, I.R.5
Choudhary, J.S.6
Grant, S.G.7
-
106
-
-
34347384211
-
A post-transcriptional regulatory switch in polypyrimidine tract-binding proteins reprograms alternative splicing in developing neurons
-
P.L. Boutz A post-transcriptional regulatory switch in polypyrimidine tract-binding proteins reprograms alternative splicing in developing neurons Genes Dev. 21 2007 1636 1652
-
(2007)
Genes Dev.
, vol.21
, pp. 1636-1652
-
-
Boutz, P.L.1
-
107
-
-
34547212309
-
The MicroRNA miR-124 promotes neuronal differentiation by triggering brain-specific alternative pre-mRNA splicing
-
E.V. Makeyev, J. Zhang, M.A. Carrasco, and T. Maniatis The MicroRNA miR-124 promotes neuronal differentiation by triggering brain-specific alternative pre-mRNA splicing Mol. Cell 27 2007 435 448
-
(2007)
Mol. Cell
, vol.27
, pp. 435-448
-
-
Makeyev, E.V.1
Zhang, J.2
Carrasco, M.A.3
Maniatis, T.4
-
108
-
-
84884817424
-
Regulation of gene expression in mammalian nervous system through alternative pre-mRNA splicing coupled with RNA quality control mechanisms
-
K. Yap, and E.V. Makeyev Regulation of gene expression in mammalian nervous system through alternative pre-mRNA splicing coupled with RNA quality control mechanisms Mol. Cell. Neurosci. 56 2013 420 428
-
(2013)
Mol. Cell. Neurosci.
, vol.56
, pp. 420-428
-
-
Yap, K.1
Makeyev, E.V.2
-
109
-
-
33750506086
-
Arc/Arg3.1 interacts with the endocytic machinery to regulate AMPA receptor trafficking
-
S. Chowdhury Arc/Arg3.1 interacts with the endocytic machinery to regulate AMPA receptor trafficking Neuron 52 2006 445 459
-
(2006)
Neuron
, vol.52
, pp. 445-459
-
-
Chowdhury, S.1
-
110
-
-
79955964537
-
Identification of a microRNA that activates gene expression by repressing nonsense-mediated RNA decay
-
I.G. Bruno Identification of a microRNA that activates gene expression by repressing nonsense-mediated RNA decay Mol. Cell 42 2011 500 510
-
(2011)
Mol. Cell
, vol.42
, pp. 500-510
-
-
Bruno, I.G.1
-
111
-
-
80052979901
-
RNA homeostasis governed by cell type-specific and branched feedback loops acting on NMD
-
L. Huang RNA homeostasis governed by cell type-specific and branched feedback loops acting on NMD Mol. Cell 43 2011 950 961
-
(2011)
Mol. Cell
, vol.43
, pp. 950-961
-
-
Huang, L.1
-
112
-
-
55549142496
-
Localization of Prp8, Brr2, Snu114 and U4/U6 proteins in the yeast tri-snRNP by electron microscopy
-
I. Häcker Localization of Prp8, Brr2, Snu114 and U4/U6 proteins in the yeast tri-snRNP by electron microscopy Nat. Struct. Mol. Biol. 15 2008 1206 1212
-
(2008)
Nat. Struct. Mol. Biol.
, vol.15
, pp. 1206-1212
-
-
Häcker, I.1
|