-
1
-
-
17944379537
-
A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11)
-
E.N. Vithana, L. Abu-Safieh, M.J. Allen, A. Carey, M. Papaioannou, C. Chakarova, M. Al-Maghtheh, N.D. Ebenezer, C. Willis, A.T. Moore, A.C. Bird, D.M. Hunt, and S.S. Bhattacharya 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
Abu-Safieh, L.2
Allen, M.J.3
Carey, A.4
Papaioannou, M.5
Chakarova, C.6
Al-Maghtheh, M.7
Ebenezer, N.D.8
Willis, C.9
Moore, A.T.10
Bird, A.C.11
Hunt, D.M.12
Bhattacharya, S.S.13
-
2
-
-
0035878541
-
Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13)
-
A.B. McKie, J.C. McHale, T.J. Keen, E.E. Tarttelin, R. Goliath, J.J. van Lith-Verhoeven, J. Greenberg, R.S. Ramesar, C.B. Hoyng, F.P. Cremers, D.A. Mackey, S.S. Bhattacharya, A.C. Bird, A.F. Markham, and C.F. Inglehearn 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
McHale, J.C.2
Keen, T.J.3
Tarttelin, E.E.4
Goliath, R.5
Van Lith-Verhoeven, J.J.6
Greenberg, J.7
Ramesar, R.S.8
Hoyng, C.B.9
Cremers, F.P.10
MacKey, D.A.11
Bhattacharya, S.S.12
Bird, A.C.13
Markham, A.F.14
Inglehearn, C.F.15
-
3
-
-
18244377189
-
Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa
-
C.F. Chakarova, M.M. Hims, H. Bolz, L. Abu-Safieh, R.J. Patel, M.G. Papaioannou, C.F. Inglehearn, T.J. Keen, C. Willis, A.T. Moore, T. Rosenberg, A.R. Webster, A.C. Bird, A. Gal, D. Hunt, E.N. Vithana, and S.S. Bhattacharya 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
Hims, M.M.2
Bolz, H.3
Abu-Safieh, L.4
Patel, R.J.5
Papaioannou, M.G.6
Inglehearn, C.F.7
Keen, T.J.8
Willis, C.9
Moore, A.T.10
Rosenberg, T.11
Webster, A.R.12
Bird, A.C.13
Gal, A.14
Hunt, D.15
Vithana, E.N.16
Bhattacharya, S.S.17
-
4
-
-
0036500141
-
Protein 61K, encoded by a gene (PRPF31) linked to autosomal dominant retinitis pigmentosa, is required for U4/U6*U5 tri-snRNP formation and pre-mRNA splicing
-
O.V. Makarova, E.M. Makarov, S. Liu, H.P. Vornlocher, and R. Luhrmann Protein 61K, encoded by a gene (PRPF31) linked to autosomal dominant retinitis pigmentosa, is required for U4/U6*U5 tri-snRNP formation and pre-mRNA splicing EMBO. J. 21 2002 1148 1157
-
(2002)
EMBO. J.
, vol.21
, pp. 1148-1157
-
-
Makarova, O.V.1
Makarov, E.M.2
Liu, S.3
Vornlocher, H.P.4
Luhrmann, R.5
-
5
-
-
0037073946
-
Small nuclear ribonucleoprotein remodeling during catalytic activation of the spliceosome
-
E.M. Makarov, O.V. Makarova, H. Urlaub, M. Gentzel, C.L. Will, M. Wilm, and R. Luhrmann Small nuclear ribonucleoprotein remodeling during catalytic activation of the spliceosome Science 298 2002 2205 2208
-
(2002)
Science
, vol.298
, pp. 2205-2208
-
-
Makarov, E.M.1
Makarova, O.V.2
Urlaub, H.3
Gentzel, M.4
Will, C.L.5
Wilm, M.6
Luhrmann, R.7
-
6
-
-
0035370526
-
Spliceosomal UsnRNP biogenesis, structure and function
-
C.L. Will, and R. Luhrmann Spliceosomal UsnRNP biogenesis, structure and function Curr. Opin. Cell Biol. 13 2001 290 301
-
(2001)
Curr. Opin. Cell Biol.
, vol.13
, pp. 290-301
-
-
Will, C.L.1
Luhrmann, R.2
-
7
-
-
0037068447
-
Comprehensive proteomic analysis of the human spliceosome
-
Z. Zhou, L.J. Licklider, S.P. Gygi, and R. Reed Comprehensive proteomic analysis of the human spliceosome Nature 419 2002 182 185
-
(2002)
Nature
, vol.419
, pp. 182-185
-
-
Zhou, Z.1
Licklider, L.J.2
Gygi, S.P.3
Reed, R.4
-
8
-
-
0036899110
-
Disease mechanism for retinitis pigmentosa (RP11) caused by mutations in the splicing factor gene PRPF31
-
E.C. Deery, E.N. Vithana, R.J. Newbold, V.A. Gallon, S.S. Bhattacharya, M.J. Warren, D.M. Hunt, and S.E. Wilkie Disease mechanism for retinitis pigmentosa (RP11) caused by mutations in the splicing factor gene PRPF31 Hum. Mol. Genet. 11 2002 3209 3219
-
(2002)
Hum. Mol. Genet.
, vol.11
, pp. 3209-3219
-
-
Deery, E.C.1
Vithana, E.N.2
Newbold, R.J.3
Gallon, V.A.4
Bhattacharya, S.S.5
Warren, M.J.6
Hunt, D.M.7
Wilkie, S.E.8
-
9
-
-
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
-
10
-
-
0034041537
-
Nuclear targeting signal recognition: A key control point in nuclear transport?
-
D.A. Jans, C.Y. Xiao, and M.H. Lam Nuclear targeting signal recognition: a key control point in nuclear transport? BioEssays 22 2000 532 544
-
(2000)
BioEssays
, vol.22
, pp. 532-544
-
-
Jans, D.A.1
Xiao, C.Y.2
Lam, M.H.3
-
11
-
-
0028988731
-
Identification of hSRP1 alpha as a functional receptor for nuclear localization sequences
-
K. Weis, I.W. Mattaj, and A.I. Lamond Identification of hSRP1 alpha as a functional receptor for nuclear localization sequences Science 268 1995 1049 1053
-
(1995)
Science
, vol.268
, pp. 1049-1053
-
-
Weis, K.1
Mattaj, I.W.2
Lamond, A.I.3
-
12
-
-
0029115837
-
Sequence and characterization of cytoplasmic nuclear protein import factor p97
-
N.C. Chi, E.J. Adam, and S.A. Adam Sequence and characterization of cytoplasmic nuclear protein import factor p97 J. Cell Biol. 130 1995 265 274
-
(1995)
J. Cell Biol.
, vol.130
, pp. 265-274
-
-
Chi, N.C.1
Adam, E.J.2
Adam, S.A.3
-
13
-
-
0031040797
-
Differential expression and sequence-specific interaction of karyopherin α with nuclear localization sequences
-
S.G. Nadler, D. Tritschler, O.K. Haffar, J. Blake, A.G. Bruce, and J.S. Cleaveland Differential expression and sequence-specific interaction of karyopherin α with nuclear localization sequences J. Biol. Chem. 272 1997 4310 4315
-
(1997)
J. Biol. Chem.
, vol.272
, pp. 4310-4315
-
-
Nadler, S.G.1
Tritschler, D.2
Haffar, O.K.3
Blake, J.4
Bruce, A.G.5
Cleaveland, J.S.6
-
14
-
-
0033082623
-
Photobleaching GFP reveals protein dynamics inside live cells
-
J. White, and E. Stelzer Photobleaching GFP reveals protein dynamics inside live cells Trends Cell. Biol. 9 1999 61 65
-
(1999)
Trends Cell. Biol.
, vol.9
, pp. 61-65
-
-
White, J.1
Stelzer, E.2
-
15
-
-
0037306231
-
Real-time imaging of nuclear permeation by EGFP in single intact cells
-
X. Wei, V.G. Henke, C. Strubing, E.B. Brown, and D.E. Clapham Real-time imaging of nuclear permeation by EGFP in single intact cells Biophys J. 84 2003 1317 1327
-
(2003)
Biophys J.
, vol.84
, pp. 1317-1327
-
-
Wei, X.1
Henke, V.G.2
Strubing, C.3
Brown, E.B.4
Clapham, D.E.5
-
16
-
-
0033548434
-
Importin beta recognizes parathyroid hormone-related protein with high affinity and mediates its nuclear import in the absence of importin alpha
-
M.H. Lam, L.J. Briggs, W. Hu, T.J. Martin, M.T. Gillespie, and D.A. Jans Importin beta recognizes parathyroid hormone-related protein with high affinity and mediates its nuclear import in the absence of importin alpha J. Biol. Chem. 274 1999 7391 7398
-
(1999)
J. Biol. Chem.
, vol.274
, pp. 7391-7398
-
-
Lam, M.H.1
Briggs, L.J.2
Hu, W.3
Martin, T.J.4
Gillespie, M.T.5
Jans, D.A.6
-
17
-
-
0032911885
-
The arginine-rich domains present in human immunodeficiency virus type 1 Tat and Rev function as direct importin beta-dependent nuclear localization signals
-
R. Truant, and B.R. Cullen The arginine-rich domains present in human immunodeficiency virus type 1 Tat and Rev function as direct importin beta-dependent nuclear localization signals Mol. Cell. Biol. 19 1999 1210 1217
-
(1999)
Mol. Cell. Biol.
, vol.19
, pp. 1210-1217
-
-
Truant, R.1
Cullen, B.R.2
-
18
-
-
0030772652
-
Transportin-mediated nuclear import of heterogeneous nuclear RNP proteins
-
H. Siomi, P. Eder, N. Kataoka, L. Wan, Q. Liu, and G. Dreyfuss Transportin-mediated nuclear import of heterogeneous nuclear RNP proteins J. Cell Biol. 138 1997 1181 1192
-
(1997)
J. Cell Biol.
, vol.138
, pp. 1181-1192
-
-
Siomi, H.1
Eder, P.2
Kataoka, N.3
Wan, L.4
Liu, Q.5
Dreyfuss, G.6
-
19
-
-
0141765726
-
Expression of PRPF31 mRNA in patients with autosomal dominant retinitis pigmentosa: A molecular clue for incomplete penetrance?
-
E.N. Vithana, L. Abu-Safieh, L. Pelosini, E. Winchester, D. Hornan, A.C. Bird, D.M. Hunt, S.A. Bustin, and S.S. Bhattacharya Expression of PRPF31 mRNA in patients with autosomal dominant retinitis pigmentosa: a molecular clue for incomplete penetrance? Investig. Ophthalmol. Vis. Sci. 44 2003 4204 4209
-
(2003)
Investig. Ophthalmol. Vis. Sci.
, vol.44
, pp. 4204-4209
-
-
Vithana, E.N.1
Abu-Safieh, L.2
Pelosini, L.3
Winchester, E.4
Hornan, D.5
Bird, A.C.6
Hunt, D.M.7
Bustin, S.A.8
Bhattacharya, S.S.9
-
20
-
-
4143124637
-
RNAi knockdown of hPrp31 leads to an accumulation of U4/U6 di-snRNPs in Cajal bodies
-
N. Schaffert, M. Hossbach, R. Heintzmann, T. Achsel, and R. Luhrmann RNAi knockdown of hPrp31 leads to an accumulation of U4/U6 di-snRNPs in Cajal bodies EMBO J. 23 2004 3000 3009
-
(2004)
EMBO J.
, vol.23
, pp. 3000-3009
-
-
Schaffert, N.1
Hossbach, M.2
Heintzmann, R.3
Achsel, T.4
Luhrmann, R.5
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