-
1
-
-
84871449381
-
Exon and intron definition in pre-mRNA splicing
-
De Conti L, Baralle M, Buratti E. Exon and intron definition in pre-mRNA splicing. WIREs: RNA 2012, 4:49-60.
-
(2012)
WIREs: RNA
, vol.4
, pp. 49-60
-
-
De Conti, L.1
Baralle, M.2
Buratti, E.3
-
2
-
-
60349104299
-
The spliceosome: design principles of a dynamic RNP machine
-
Wahl MC, Will CL, Luhrmann R. The spliceosome: design principles of a dynamic RNP machine. Cell 2009, 136:701-718.
-
(2009)
Cell
, vol.136
, pp. 701-718
-
-
Wahl, M.C.1
Will, C.L.2
Luhrmann, R.3
-
3
-
-
75849145292
-
Expansion of the eukaryotic proteome by alternative splicing
-
Nilsen TW, Graveley BR. Expansion of the eukaryotic proteome by alternative splicing. Nature 2010, 463:457-463.
-
(2010)
Nature
, vol.463
, pp. 457-463
-
-
Nilsen, T.W.1
Graveley, B.R.2
-
4
-
-
38049061206
-
Alternative splicing: current perspectives
-
Kim E, Goren A, Ast G. Alternative splicing: current perspectives. Bioessays 2008, 30:38-47.
-
(2008)
Bioessays
, vol.30
, pp. 38-47
-
-
Kim, E.1
Goren, A.2
Ast, G.3
-
5
-
-
84871435525
-
Function of alternative splicing
-
Kelemen O, Convertini P, Zhang Z, Wen Y, Shen M, Falaleeva M, Stamm S. Function of alternative splicing. Gene 2012, 514:1-30.
-
(2012)
Gene
, vol.514
, pp. 1-30
-
-
Kelemen, O.1
Convertini, P.2
Zhang, Z.3
Wen, Y.4
Shen, M.5
Falaleeva, M.6
Stamm, S.7
-
6
-
-
79960594889
-
Using positional distribution to identify splicing elements and predict pre-mRNA processing defects in human genes
-
Lim KH, Ferraris L, Filloux ME, Raphael BJ, Fairbrother WG. Using positional distribution to identify splicing elements and predict pre-mRNA processing defects in human genes. Proc Natl Acad Sci U S A 2011, 108:11093-11098.
-
(2011)
Proc Natl Acad Sci U S A
, vol.108
, pp. 11093-11098
-
-
Lim, K.H.1
Ferraris, L.2
Filloux, M.E.3
Raphael, B.J.4
Fairbrother, W.G.5
-
7
-
-
79960607075
-
Loss of exon identity is a common mechanism of human inherited disease
-
Sterne-Weiler T, Howard J, Mort M, Cooper DN, Sanford JR. Loss of exon identity is a common mechanism of human inherited disease. Genome Res 2011, 21:1563-1571.
-
(2011)
Genome Res
, vol.21
, pp. 1563-1571
-
-
Sterne-Weiler, T.1
Howard, J.2
Mort, M.3
Cooper, D.N.4
Sanford, J.R.5
-
8
-
-
0344011094
-
Intrinsic differences between authentic and cryptic 5′ splice sites
-
Roca X, Sachidanandam R, Krainer AR. Intrinsic differences between authentic and cryptic 5′ splice sites. Nucleic Acids Res 2003, 31:6321-6333.
-
(2003)
Nucleic Acids Res
, vol.31
, pp. 6321-6333
-
-
Roca, X.1
Sachidanandam, R.2
Krainer, A.R.3
-
9
-
-
77953446523
-
The Human Gene Mutation Database: 2008 update
-
Stenson PD, Mort M, Ball EV, Howells K, Phillips AD, Thomas NS, Cooper DN. The Human Gene Mutation Database: 2008 update. Genome Med 2009, 1:13.
-
(2009)
Genome Med
, vol.1
, pp. 13
-
-
Stenson, P.D.1
Mort, M.2
Ball, E.V.3
Howells, K.4
Phillips, A.D.5
Thomas, N.S.6
Cooper, D.N.7
-
10
-
-
77949512140
-
RNA targeting therapeutics: molecular mechanisms of antisense oligonucleotides as a therapeutic platform
-
Bennett CF, Swayze EE. RNA targeting therapeutics: molecular mechanisms of antisense oligonucleotides as a therapeutic platform. Annu Rev Pharmacol Toxicol 2010, 50:259-293.
-
(2010)
Annu Rev Pharmacol Toxicol
, vol.50
, pp. 259-293
-
-
Bennett, C.F.1
Swayze, E.E.2
-
11
-
-
84868092702
-
Targeting a pre-mRNA structure with bipartite antisense molecules modulates tau alternative splicing
-
Peacey E, Rodriguez L, Liu Y, Wolfe MS. Targeting a pre-mRNA structure with bipartite antisense molecules modulates tau alternative splicing. Nucleic Acids Res 2012, 40:9836-9849.
-
(2012)
Nucleic Acids Res
, vol.40
, pp. 9836-9849
-
-
Peacey, E.1
Rodriguez, L.2
Liu, Y.3
Wolfe, M.S.4
-
12
-
-
84858256924
-
A single administration of morpholino antisense oligomer rescues spinal muscular atrophy in mouse
-
Porensky PN, Mitrpant C, McGovern VL, Bevan AK, Foust KD, Kaspar BK, Wilton SD, Burghes AH. A single administration of morpholino antisense oligomer rescues spinal muscular atrophy in mouse. Hum Mol Genet 2012, 21:1625-1638.
-
(2012)
Hum Mol Genet
, vol.21
, pp. 1625-1638
-
-
Porensky, P.N.1
Mitrpant, C.2
McGovern, V.L.3
Bevan, A.K.4
Foust, K.D.5
Kaspar, B.K.6
Wilton, S.D.7
Burghes, A.H.8
-
13
-
-
80053902729
-
Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model
-
Hua Y, Sahashi K, Rigo F, Hung G, Horev G, Bennett CF, Krainer AR. Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model. Nature 2011, 478:123-126.
-
(2011)
Nature
, vol.478
, pp. 123-126
-
-
Hua, Y.1
Sahashi, K.2
Rigo, F.3
Hung, G.4
Horev, G.5
Bennett, C.F.6
Krainer, A.R.7
-
14
-
-
0037388256
-
Bifunctional antisense oligonucleotides provide a trans-acting splicing enhancer that stimulates SMN2 gene expression in patient fibroblasts
-
Skordis LA, Dunckley MG, Yue B, Eperon IC, Muntoni F. Bifunctional antisense oligonucleotides provide a trans-acting splicing enhancer that stimulates SMN2 gene expression in patient fibroblasts. Proc Natl Acad Sci U S A 2003, 100:4114-4119.
-
(2003)
Proc Natl Acad Sci U S A
, vol.100
, pp. 4114-4119
-
-
Skordis, L.A.1
Dunckley, M.G.2
Yue, B.3
Eperon, I.C.4
Muntoni, F.5
-
15
-
-
84856970439
-
Bifunctional RNAs targeting the intronic splicing silencer N1 increase SMN levels and reduce disease severity in an animal model of spinal muscular atrophy
-
Osman EY, Yen PF, Lorson CL. Bifunctional RNAs targeting the intronic splicing silencer N1 increase SMN levels and reduce disease severity in an animal model of spinal muscular atrophy. Mol Ther 2012, 20:119-126.
-
(2012)
Mol Ther
, vol.20
, pp. 119-126
-
-
Osman, E.Y.1
Yen, P.F.2
Lorson, C.L.3
-
16
-
-
58749114204
-
Rescue of a severe mouse model for spinal muscular atrophy by U7 snRNA-mediated splicing modulation
-
Meyer K, Marquis J, Trub J, Nlend Nlend R, Verp S, Ruepp MD, Imboden H, Barde I, Trono D, Schumperli D. Rescue of a severe mouse model for spinal muscular atrophy by U7 snRNA-mediated splicing modulation. Hum Mol Genet 2009, 18:546-555.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 546-555
-
-
Meyer, K.1
Marquis, J.2
Trub, J.3
Nlend Nlend, R.4
Verp, S.5
Ruepp, M.D.6
Imboden, H.7
Barde, I.8
Trono, D.9
Schumperli, D.10
-
17
-
-
0037313165
-
Correction of disease-associated exon skipping by synthetic exon-specific activators
-
Cartegni L, Krainer AR. Correction of disease-associated exon skipping by synthetic exon-specific activators. Nat Struct Biol 2003, 10:120-125.
-
(2003)
Nat Struct Biol
, vol.10
, pp. 120-125
-
-
Cartegni, L.1
Krainer, A.R.2
-
18
-
-
84861326886
-
Synthetic oligonucleotides recruit ILF2/3 to RNA transcripts to modulate splicing
-
Rigo F, Hua Y, Chun SJ, Prakash TP, Krainer AR, Bennett CF. Synthetic oligonucleotides recruit ILF2/3 to RNA transcripts to modulate splicing. Nat Chem Biol 2012, 8:555-561.
-
(2012)
Nat Chem Biol
, vol.8
, pp. 555-561
-
-
Rigo, F.1
Hua, Y.2
Chun, S.J.3
Prakash, T.P.4
Krainer, A.R.5
Bennett, C.F.6
-
19
-
-
84863983970
-
Spliceosome-mediated trans-splicing: the therapeutic cut and paste
-
Wally V, Murauer EM, Bauer JW. Spliceosome-mediated trans-splicing: the therapeutic cut and paste. J Invest Dermatol 2012, 132:1959-1966.
-
(2012)
J Invest Dermatol
, vol.132
, pp. 1959-1966
-
-
Wally, V.1
Murauer, E.M.2
Bauer, J.W.3
-
20
-
-
84872794005
-
A gene therapeutic approach to correct splice defects with modified U1 and U6 snRNPs
-
Schmid F, Hiller T, Korner G, Glaus E, Berger W, Neidhardt J. A gene therapeutic approach to correct splice defects with modified U1 and U6 snRNPs. Hum Gene Ther 2012, 24:97-104.
-
(2012)
Hum Gene Ther
, vol.24
, pp. 97-104
-
-
Schmid, F.1
Hiller, T.2
Korner, G.3
Glaus, E.4
Berger, W.5
Neidhardt, J.6
-
21
-
-
84872534036
-
A high-throughput assay to identify small-molecule modulators of alternative pre-mRNA splicing
-
Arslan AD, He X, Wang M, Rumschlag-Booms E, Rong L, Beck WT. A high-throughput assay to identify small-molecule modulators of alternative pre-mRNA splicing. J Biomol Screen 2012, 18:180-190.
-
(2012)
J Biomol Screen
, vol.18
, pp. 180-190
-
-
Arslan, A.D.1
He, X.2
Wang, M.3
Rumschlag-Booms, E.4
Rong, L.5
Beck, W.T.6
-
22
-
-
49649108878
-
A high-throughput screening strategy identifies cardiotonic steroids as alternative splicing modulators
-
Stoilov P, Lin CH, Damoiseaux R, Nikolic J, Black DL. A high-throughput screening strategy identifies cardiotonic steroids as alternative splicing modulators. Proc Natl Acad Sci U S A 2008, 105:11218-11223.
-
(2008)
Proc Natl Acad Sci U S A
, vol.105
, pp. 11218-11223
-
-
Stoilov, P.1
Lin, C.H.2
Damoiseaux, R.3
Nikolic, J.4
Black, D.L.5
-
23
-
-
73249132978
-
Pentamidine reverses the splicing defects associated with myotonic dystrophy
-
Warf MB, Nakamori M, Matthys CM, Thornton CA, Berglund JA. Pentamidine reverses the splicing defects associated with myotonic dystrophy. Proc Natl Acad Sci U S A 2009, 106:18551-18556.
-
(2009)
Proc Natl Acad Sci U S A
, vol.106
, pp. 18551-18556
-
-
Warf, M.B.1
Nakamori, M.2
Matthys, C.M.3
Thornton, C.A.4
Berglund, J.A.5
-
24
-
-
34447542621
-
Using 5′-PTMs to repair mutant β-globin transcripts
-
Kierlin-Duncan MN, Sullenger BA. Using 5′-PTMs to repair mutant β-globin transcripts. RNA 2007, 13:1317-1327.
-
(2007)
RNA
, vol.13
, pp. 1317-1327
-
-
Kierlin-Duncan, M.N.1
Sullenger, B.A.2
-
25
-
-
79959718365
-
U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation
-
Schmid F, Glaus E, Barthelmes D, Fliegauf M, Gaspar H, Nurnberg G, Nurnberg P, Omran H, Berger W, Neidhardt J. U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation. Hum Mutat 2011, 32:815-824.
-
(2011)
Hum Mutat
, vol.32
, pp. 815-824
-
-
Schmid, F.1
Glaus, E.2
Barthelmes, D.3
Fliegauf, M.4
Gaspar, H.5
Nurnberg, G.6
Nurnberg, P.7
Omran, H.8
Berger, W.9
Neidhardt, J.10
-
26
-
-
36148940974
-
U7 snRNA-mediated correction of aberrant splicing caused by activation of cryptic splice sites
-
Uchikawa H, Fujii K, Kohno Y, Katsumata N, Nagao K, Yamada M, Miyashita T. U7 snRNA-mediated correction of aberrant splicing caused by activation of cryptic splice sites. J Hum Genet 2007, 52:891-897.
-
(2007)
J Hum Genet
, vol.52
, pp. 891-897
-
-
Uchikawa, H.1
Fujii, K.2
Kohno, Y.3
Katsumata, N.4
Nagao, K.5
Yamada, M.6
Miyashita, T.7
-
27
-
-
84861134371
-
An exon-specific U1 small nuclear RNA (snRNA) strategy to correct splicing defects
-
Fernandez Alanis E, Pinotti M, Dal Mas A, Balestra D, Cavallari N, Rogalska ME, Bernardi F, Pagani F. An exon-specific U1 small nuclear RNA (snRNA) strategy to correct splicing defects. Hum Mol Genet 2012, 21:2389-2398.
-
(2012)
Hum Mol Genet
, vol.21
, pp. 2389-2398
-
-
Fernandez Alanis, E.1
Pinotti, M.2
Dal Mas, A.3
Balestra, D.4
Cavallari, N.5
Rogalska, M.E.6
Bernardi, F.7
Pagani, F.8
-
28
-
-
79960055339
-
Antisense oligo-mediated multiple exon skipping in a dog model of duchenne muscular dystrophy
-
Yokota T, Hoffman E, Takeda S. Antisense oligo-mediated multiple exon skipping in a dog model of duchenne muscular dystrophy. Methods Mol Biol 2011, 709:299-312.
-
(2011)
Methods Mol Biol
, vol.709
, pp. 299-312
-
-
Yokota, T.1
Hoffman, E.2
Takeda, S.3
-
29
-
-
84857793829
-
Long-term restoration of cardiac dystrophin expression in golden retriever muscular dystrophy following rAAV6-mediated exon skipping
-
Bish LT, Sleeper MM, Forbes SC, Wang B, Reynolds C, Singletary GE, Trafny D, Morine KJ, Sanmiguel J, Cecchini S, et al. Long-term restoration of cardiac dystrophin expression in golden retriever muscular dystrophy following rAAV6-mediated exon skipping. Mol Ther 2012, 20:580-589.
-
(2012)
Mol Ther
, vol.20
, pp. 580-589
-
-
Bish, L.T.1
Sleeper, M.M.2
Forbes, S.C.3
Wang, B.4
Reynolds, C.5
Singletary, G.E.6
Trafny, D.7
Morine, K.J.8
Sanmiguel, J.9
Cecchini, S.10
-
30
-
-
41949088960
-
U1-snRNA-mediated rescue of mRNA processing in severe factor VII deficiency
-
Pinotti M, Rizzotto L, Balestra D, Lewandowska MA, Cavallari N, Marchetti G, Bernardi F, Pagani F. U1-snRNA-mediated rescue of mRNA processing in severe factor VII deficiency. Blood 2008, 111:2681-2684.
-
(2008)
Blood
, vol.111
, pp. 2681-2684
-
-
Pinotti, M.1
Rizzotto, L.2
Balestra, D.3
Lewandowska, M.A.4
Cavallari, N.5
Marchetti, G.6
Bernardi, F.7
Pagani, F.8
-
31
-
-
80053928419
-
Kinetin improves IKBKAP mRNA splicing in patients with familial dysautonomia
-
Axelrod FB, Liebes L, Gold-Von Simson G, Mendoza S, Mull J, Leyne M, Norcliffe-Kaufmann L, Kaufmann H, Slaugenhaupt SA. Kinetin improves IKBKAP mRNA splicing in patients with familial dysautonomia. Pediatr Res 2011, 70:480-483.
-
(2011)
Pediatr Res
, vol.70
, pp. 480-483
-
-
Axelrod, F.B.1
Liebes, L.2
Gold-Von Simson, G.3
Mendoza, S.4
Mull, J.5
Leyne, M.6
Norcliffe-Kaufmann, L.7
Kaufmann, H.8
Slaugenhaupt, S.A.9
-
32
-
-
33846574156
-
Therapeutic potential and mechanism of kinetin as a treatment for the human splicing disease familial dysautonomia
-
Hims MM, Ibrahim EC, Leyne M, Mull J, Liu L, Lazaro C, Shetty RS, Gill S, Gusella JF, Reed R, et al. Therapeutic potential and mechanism of kinetin as a treatment for the human splicing disease familial dysautonomia. J Mol Med 2007, 85:149-161.
-
(2007)
J Mol Med
, vol.85
, pp. 149-161
-
-
Hims, M.M.1
Ibrahim, E.C.2
Leyne, M.3
Mull, J.4
Liu, L.5
Lazaro, C.6
Shetty, R.S.7
Gill, S.8
Gusella, J.F.9
Reed, R.10
-
33
-
-
0141681935
-
EGCG corrects aberrant splicing of IKAP mRNA in cells from patients with familial dysautonomia
-
Anderson SL, Qiu J, Rubin BY. EGCG corrects aberrant splicing of IKAP mRNA in cells from patients with familial dysautonomia. Biochem Biophys Res Commun 2003, 310:627-633.
-
(2003)
Biochem Biophys Res Commun
, vol.310
, pp. 627-633
-
-
Anderson, S.L.1
Qiu, J.2
Rubin, B.Y.3
-
34
-
-
77957749244
-
Correct mRNA processing at a mutant TT splice donor in FANCC ameliorates the clinical phenotype in patients and is enhanced by delivery of suppressor U1 snRNAs
-
Hartmann L, Neveling K, Borkens S, Schneider H, Freund M, Grassman E, Theiss S, Wawer A, Burdach S, Auerbach AD, et al. Correct mRNA processing at a mutant TT splice donor in FANCC ameliorates the clinical phenotype in patients and is enhanced by delivery of suppressor U1 snRNAs. Am J Hum Genet 2010, 87:480-493.
-
(2010)
Am J Hum Genet
, vol.87
, pp. 480-493
-
-
Hartmann, L.1
Neveling, K.2
Borkens, S.3
Schneider, H.4
Freund, M.5
Grassman, E.6
Theiss, S.7
Wawer, A.8
Burdach, S.9
Auerbach, A.D.10
-
35
-
-
78651442105
-
Overexpression of adapted U1snRNA in patients' cells to correct a 5′ splice site mutation in propionic acidemia
-
Sanchez-Alcudia R, Perez B, Perez-Cerda C, Ugarte M, Desviat LR. Overexpression of adapted U1snRNA in patients' cells to correct a 5′ splice site mutation in propionic acidemia. Mol Genet Metab 2011, 102:134-138.
-
(2011)
Mol Genet Metab
, vol.102
, pp. 134-138
-
-
Sanchez-Alcudia, R.1
Perez, B.2
Perez-Cerda, C.3
Ugarte, M.4
Desviat, L.R.5
-
36
-
-
59749104368
-
Therapeutic strategy to rescue mutation-induced exon skipping in rhodopsin by adaptation of U1 snRNA
-
Tanner G, Glaus E, Barthelmes D, Ader M, Fleischhauer J, Pagani F, Berger W, Neidhardt J. Therapeutic strategy to rescue mutation-induced exon skipping in rhodopsin by adaptation of U1 snRNA. Hum Mutat 2009, 30:255-263.
-
(2009)
Hum Mutat
, vol.30
, pp. 255-263
-
-
Tanner, G.1
Glaus, E.2
Barthelmes, D.3
Ader, M.4
Fleischhauer, J.5
Pagani, F.6
Berger, W.7
Neidhardt, J.8
-
37
-
-
79955642348
-
Gene therapeutic approach using mutation-adapted U1 snRNA to correct a RPGR splice defect in patient-derived cells
-
Glaus E, Schmid F, Da Costa R, Berger W, Neidhardt J. Gene therapeutic approach using mutation-adapted U1 snRNA to correct a RPGR splice defect in patient-derived cells. Mol Ther 2011, 19:936-941.
-
(2011)
Mol Ther
, vol.19
, pp. 936-941
-
-
Glaus, E.1
Schmid, F.2
Da Costa, R.3
Berger, W.4
Neidhardt, J.5
-
38
-
-
84857486516
-
Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia
-
Nakamura K, Du L, Tunuguntla R, Fike F, Cavalieri S, Morio T, Mizutani S, Brusco A, Gatti RA. Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia. Hum Mutat 2012, 33:198-208.
-
(2012)
Hum Mutat
, vol.33
, pp. 198-208
-
-
Nakamura, K.1
Du, L.2
Tunuguntla, R.3
Fike, F.4
Cavalieri, S.5
Morio, T.6
Mizutani, S.7
Brusco, A.8
Gatti, R.A.9
-
39
-
-
41949141408
-
Correction of aberrant pre-mRNA splicing by antisense oligonucleotides in β-thalassemia Egyptian patients with IVSI-110 mutation.
-
El-Beshlawy A, Mostafa A, Youssry I, Gabr H, Mansour IM, El-Tablawy M, Aziz M, Hussein IR. Correction of aberrant pre-mRNA splicing by antisense oligonucleotides in β-thalassemia Egyptian patients with IVSI-110 mutation. J Pediatr Hematol Oncol 2008, 30:281-284.
-
(2008)
J Pediatr Hematol Oncol
, vol.30
, pp. 281-284
-
-
El-Beshlawy, A.1
Mostafa, A.2
Youssry, I.3
Gabr, H.4
Mansour, I.M.5
El-Tablawy, M.6
Aziz, M.7
Hussein, I.R.8
-
40
-
-
0034662881
-
Restoration of hemoglobin A synthesis in erythroid cells from peripheral blood of thalassemic patients
-
Lacerra G, Sierakowska H, Carestia C, Fucharoen S, Summerton J, Weller D, Kole R. Restoration of hemoglobin A synthesis in erythroid cells from peripheral blood of thalassemic patients. Proc Natl Acad Sci U S A 2000, 97:9591-9596.
-
(2000)
Proc Natl Acad Sci U S A
, vol.97
, pp. 9591-9596
-
-
Lacerra, G.1
Sierakowska, H.2
Carestia, C.3
Fucharoen, S.4
Summerton, J.5
Weller, D.6
Kole, R.7
-
41
-
-
0036942827
-
Repair of a splicing defect in erythroid cells from patients with β-thalassemia/HbE disorder
-
Suwanmanee T, Sierakowska H, Fucharoen S, Kole R. Repair of a splicing defect in erythroid cells from patients with β-thalassemia/HbE disorder. Mol Ther 2002, 6:718-726.
-
(2002)
Mol Ther
, vol.6
, pp. 718-726
-
-
Suwanmanee, T.1
Sierakowska, H.2
Fucharoen, S.3
Kole, R.4
-
42
-
-
59049089272
-
RNA repair restores hemoglobin expression in IVS2-654 thalassemic mice.
-
Svasti S, Suwanmanee T, Fucharoen S, Moulton HM, Nelson MH, Maeda N, Smithies O, Kole R. RNA repair restores hemoglobin expression in IVS2-654 thalassemic mice. Proc Natl Acad Sci U S A 2009, 106:1205-1210.
-
(2009)
Proc Natl Acad Sci U S A
, vol.106
, pp. 1205-1210
-
-
Svasti, S.1
Suwanmanee, T.2
Fucharoen, S.3
Moulton, H.M.4
Nelson, M.H.5
Maeda, N.6
Smithies, O.7
Kole, R.8
-
43
-
-
0037217988
-
High-level expression of hemoglobin A in human thalassemic erythroid progenitor cells following lentiviral vector delivery of an antisense snRNA
-
Vacek MM, Ma H, Gemignani F, Lacerra G, Kafri T, Kole R. High-level expression of hemoglobin A in human thalassemic erythroid progenitor cells following lentiviral vector delivery of an antisense snRNA. Blood 2003, 101:104-111.
-
(2003)
Blood
, vol.101
, pp. 104-111
-
-
Vacek, M.M.1
Ma, H.2
Gemignani, F.3
Lacerra, G.4
Kafri, T.5
Kole, R.6
-
44
-
-
79955854731
-
Correction of β654-thalassaemia mice using direct intravenous injection of siRNA and antisense RNA vectors
-
Xie SY, Li W, Ren ZR, Huang SZ, Zeng F, Zeng YT. Correction of β654-thalassaemia mice using direct intravenous injection of siRNA and antisense RNA vectors. Int J Hematol 2011, 93:301-310.
-
(2011)
Int J Hematol
, vol.93
, pp. 301-310
-
-
Xie, S.Y.1
Li, W.2
Ren, Z.R.3
Huang, S.Z.4
Zeng, F.5
Zeng, Y.T.6
-
45
-
-
84866391666
-
BRCA2 deep intronic mutation causing activation of a cryptic exon: opening toward a new preventive therapeutic strategy
-
Anczukow O, Buisson M, Leone M, Coutanson C, Lasset C, Calender A, Sinilnikova OM, Mazoyer S. BRCA2 deep intronic mutation causing activation of a cryptic exon: opening toward a new preventive therapeutic strategy. Clin Cancer Res 2012, 18:4903-4909.
-
(2012)
Clin Cancer Res
, vol.18
, pp. 4903-4909
-
-
Anczukow, O.1
Buisson, M.2
Leone, M.3
Coutanson, C.4
Lasset, C.5
Calender, A.6
Sinilnikova, O.M.7
Mazoyer, S.8
-
46
-
-
66749140994
-
Functional analysis of three splicing mutations identified in the PMM2 gene: toward a new therapy for congenital disorder of glycosylation type Ia
-
Vega AI, Perez-Cerda C, Desviat LR, Matthijs G, Ugarte M, Perez B. Functional analysis of three splicing mutations identified in the PMM2 gene: toward a new therapy for congenital disorder of glycosylation type Ia. Human Mutat 2009, 30:795-803.
-
(2009)
Human Mutat
, vol.30
, pp. 795-803
-
-
Vega, A.I.1
Perez-Cerda, C.2
Desviat, L.R.3
Matthijs, G.4
Ugarte, M.5
Perez, B.6
-
47
-
-
0033579478
-
Correction of aberrant splicing of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by antisense oligonucleotides
-
Friedman KJ, Kole J, Cohn JA, Knowles MR, Silverman LM, Kole R. Correction of aberrant splicing of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by antisense oligonucleotides. J Biol Chem 1999, 274:36193-36199.
-
(1999)
J Biol Chem
, vol.274
, pp. 36193-36199
-
-
Friedman, K.J.1
Kole, J.2
Cohn, J.A.3
Knowles, M.R.4
Silverman, L.M.5
Kole, R.6
-
48
-
-
10044270719
-
Restoration of the cystic fibrosis transmembrane conductance regulator function by splicing modulation
-
Nissim-Rafinia M, Aviram M, Randell SH, Shushi L, Ozeri E, Chiba-Falek O, Eidelman O, Pollard HB, Yankaskas JR, Kerem B. Restoration of the cystic fibrosis transmembrane conductance regulator function by splicing modulation. EMBO Rep 2004, 5:1071-1077.
-
(2004)
EMBO Rep
, vol.5
, pp. 1071-1077
-
-
Nissim-Rafinia, M.1
Aviram, M.2
Randell, S.H.3
Shushi, L.4
Ozeri, E.5
Chiba-Falek, O.6
Eidelman, O.7
Pollard, H.B.8
Yankaskas, J.R.9
Kerem, B.10
-
49
-
-
39049095823
-
DMD pseudoexon mutations: splicing efficiency, phenotype, and potential therapy
-
Gurvich OL, Tuohy TM, Howard MT, Finkel RS, Medne L, Anderson CB, Weiss RB, Wilton SD, Flanigan KM. DMD pseudoexon mutations: splicing efficiency, phenotype, and potential therapy. Ann Neurol 2008, 63:81-89.
-
(2008)
Ann Neurol
, vol.63
, pp. 81-89
-
-
Gurvich, O.L.1
Tuohy, T.M.2
Howard, M.T.3
Finkel, R.S.4
Medne, L.5
Anderson, C.B.6
Weiss, R.B.7
Wilton, S.D.8
Flanigan, K.M.9
-
50
-
-
80053898946
-
Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy
-
Taniguchi-Ikeda M, Kobayashi K, Kanagawa M, Yu CC, Mori K, Oda T, Kuga A, Kurahashi H, Akman HO, DiMauro S, et al. Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy. Nature 2011, 478:127-131.
-
(2011)
Nature
, vol.478
, pp. 127-131
-
-
Taniguchi-Ikeda, M.1
Kobayashi, K.2
Kanagawa, M.3
Yu, C.C.4
Mori, K.5
Oda, T.6
Kuga, A.7
Kurahashi, H.8
Akman, H.O.9
DiMauro, S.10
-
51
-
-
77954911553
-
Repair of aberrant splicing in growth hormone receptor by antisense oligonucleotides targeting the splice sites of a pseudoexon
-
David A, Srirangalingam U, Metherell LA, Khoo B, Clark AJ. Repair of aberrant splicing in growth hormone receptor by antisense oligonucleotides targeting the splice sites of a pseudoexon. J Clin Endocrinol Metab 2010, 95:3542-3546.
-
(2010)
J Clin Endocrinol Metab
, vol.95
, pp. 3542-3546
-
-
David, A.1
Srirangalingam, U.2
Metherell, L.A.3
Khoo, B.4
Clark, A.J.5
-
52
-
-
79960348053
-
Pseudoexon exclusion by antisense therapy in 6-pyruvoyl-tetrahydropterin synthase deficiency
-
Brasil S, Viecelli HM, Meili D, Rassi A, Desviat LR, Perez B, Ugarte M, Thony B. Pseudoexon exclusion by antisense therapy in 6-pyruvoyl-tetrahydropterin synthase deficiency. Hum Mutat 2011, 32:1019-1027.
-
(2011)
Hum Mutat
, vol.32
, pp. 1019-1027
-
-
Brasil, S.1
Viecelli, H.M.2
Meili, D.3
Rassi, A.4
Desviat, L.R.5
Perez, B.6
Ugarte, M.7
Thony, B.8
-
53
-
-
80054886882
-
Splicing-directed therapy in a new mouse model of human accelerated aging
-
Osorio FG, Navarro CL, Cadinanos J, Lopez-Mejia IC, Quiros PM, Bartoli C, Rivera J, Tazi J, Guzman G, Varela I, et al. Splicing-directed therapy in a new mouse model of human accelerated aging. Sci Transl Med 2011, 3:106ra107.
-
(2011)
Sci Transl Med
, vol.3
-
-
Osorio, F.G.1
Navarro, C.L.2
Cadinanos, J.3
Lopez-Mejia, I.C.4
Quiros, P.M.5
Bartoli, C.6
Rivera, J.7
Tazi, J.8
Guzman, G.9
Varela, I.10
-
54
-
-
67249117195
-
Activating the synthesis of progerin, the mutant prelamin A in Hutchinson-Gilford progeria syndrome, with antisense oligonucleotides
-
Fong LG, Vickers TA, Farber EA, Choi C, Yun UJ, Hu Y, Yang SH, Coffinier C, Lee R, Yin L, et al. Activating the synthesis of progerin, the mutant prelamin A in Hutchinson-Gilford progeria syndrome, with antisense oligonucleotides. Hum Mol Genet 2009, 18:2462-2471.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 2462-2471
-
-
Fong, L.G.1
Vickers, T.A.2
Farber, E.A.3
Choi, C.4
Yun, U.J.5
Hu, Y.6
Yang, S.H.7
Coffinier, C.8
Lee, R.9
Yin, L.10
-
55
-
-
84864972142
-
Megalencephalic leukoencephalopathy with subcortical cysts type 1 (MLC1) due to a homozygous deep intronic splicing mutation (c.895-226T>G) abrogated in vitro using an antisense morpholino oligonucleotide.
-
Mancini C, Vaula G, Scalzitti L, Cavalieri S, Bertini E, Aiello C, Lucchini C, Gatti RA, Brussino A, Brusco A. Megalencephalic leukoencephalopathy with subcortical cysts type 1 (MLC1) due to a homozygous deep intronic splicing mutation (c.895-226T>G) abrogated in vitro using an antisense morpholino oligonucleotide. Neurogenetics 2012, 13:205-214.
-
(2012)
Neurogenetics
, vol.13
, pp. 205-214
-
-
Mancini, C.1
Vaula, G.2
Scalzitti, L.3
Cavalieri, S.4
Bertini, E.5
Aiello, C.6
Lucchini, C.7
Gatti, R.A.8
Brussino, A.9
Brusco, A.10
-
56
-
-
71849091186
-
Pseudoexon exclusion by antisense therapy in methylmalonic aciduria (MMAuria)
-
Perez B, Rincon A, Jorge-Finnigan A, Richard E, Merinero B, Ugarte M, Desviat LR. Pseudoexon exclusion by antisense therapy in methylmalonic aciduria (MMAuria). Human Mutat 2009, 30:1676-1682.
-
(2009)
Human Mutat
, vol.30
, pp. 1676-1682
-
-
Perez, B.1
Rincon, A.2
Jorge-Finnigan, A.3
Richard, E.4
Merinero, B.5
Ugarte, M.6
Desviat, L.R.7
-
57
-
-
36749049831
-
Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA
-
Rincon A, Aguado C, Desviat LR, Sanchez-Alcudia R, Ugarte M, Perez B. Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA. Am J Hum Genet 2007, 81:1262-1270.
-
(2007)
Am J Hum Genet
, vol.81
, pp. 1262-1270
-
-
Rincon, A.1
Aguado, C.2
Desviat, L.R.3
Sanchez-Alcudia, R.4
Ugarte, M.5
Perez, B.6
-
58
-
-
84856337571
-
Antisense oligonucleotide corrects splice abnormality in hereditary myopathy with lactic acidosis
-
Sanaker PS, Toompuu M, McClorey G, Bindoff LA. Antisense oligonucleotide corrects splice abnormality in hereditary myopathy with lactic acidosis. Gene 2012, 494:231-236.
-
(2012)
Gene
, vol.494
, pp. 231-236
-
-
Sanaker, P.S.1
Toompuu, M.2
McClorey, G.3
Bindoff, L.A.4
-
59
-
-
70449536411
-
Antisense oligonucleotide therapeutics for iron-sulphur cluster deficiency myopathy
-
Kollberg G, Holme E. Antisense oligonucleotide therapeutics for iron-sulphur cluster deficiency myopathy. Neuromuscul Disord 2009, 19:833-836.
-
(2009)
Neuromuscul Disord
, vol.19
, pp. 833-836
-
-
Kollberg, G.1
Holme, E.2
-
60
-
-
36849035575
-
Correction of ClC-1 splicing eliminates chloride channelopathy and myotonia in mouse models of myotonic dystrophy
-
Wheeler TM, Lueck JD, Swanson MS, Dirksen RT, Thornton CA. Correction of ClC-1 splicing eliminates chloride channelopathy and myotonia in mouse models of myotonic dystrophy. J Clin Invest 2007, 117:3952-3957.
-
(2007)
J Clin Invest
, vol.117
, pp. 3952-3957
-
-
Wheeler, T.M.1
Lueck, J.D.2
Swanson, M.S.3
Dirksen, R.T.4
Thornton, C.A.5
-
61
-
-
61649121051
-
Antisense therapeutics for neurofibromatosis type 1 caused by deep intronic mutations
-
Pros E, Fernandez-Rodriguez J, Canet B, Benito L, Sanchez A, Benavides A, Ramos FJ, Lopez-Ariztegui MA, Capella G, Blanco I, et al. Antisense therapeutics for neurofibromatosis type 1 caused by deep intronic mutations. Human Mutat 2009, 30:454-462.
-
(2009)
Human Mutat
, vol.30
, pp. 454-462
-
-
Pros, E.1
Fernandez-Rodriguez, J.2
Canet, B.3
Benito, L.4
Sanchez, A.5
Benavides, A.6
Ramos, F.J.7
Lopez-Ariztegui, M.A.8
Capella, G.9
Blanco, I.10
-
62
-
-
70350721801
-
Antisense oligonucleotide treatment for a pseudoexon-generating mutation in the NPC1 gene causing Niemann-Pick type C disease
-
Rodriguez-Pascau L, Coll MJ, Vilageliu L, Grinberg D. Antisense oligonucleotide treatment for a pseudoexon-generating mutation in the NPC1 gene causing Niemann-Pick type C disease. Human Mutat 2009, 30:E993-E1001.
-
(2009)
Human Mutat
, vol.30
-
-
Rodriguez-Pascau, L.1
Coll, M.J.2
Vilageliu, L.3
Grinberg, D.4
-
63
-
-
84875212043
-
Rescue of hearing and vestibular function by antisense oligonucleotides in a mouse model of human deafness
-
Lentz JJ, Jodelka FM, Hinrich AJ, McCaffrey KE, Farris HE, Spalitta MJ, Bazan NG, Duelli DM, Rigo F, Hastings ML. Rescue of hearing and vestibular function by antisense oligonucleotides in a mouse model of human deafness. Nat Med 2013, 19:345-350.
-
(2013)
Nat Med
, vol.19
, pp. 345-350
-
-
Lentz, J.J.1
Jodelka, F.M.2
Hinrich, A.J.3
McCaffrey, K.E.4
Farris, H.E.5
Spalitta, M.J.6
Bazan, N.G.7
Duelli, D.M.8
Rigo, F.9
Hastings, M.L.10
-
64
-
-
59749094710
-
A deep intronic mutation in FGB creates a consensus exonic splicing enhancer motif that results in afibrinogenemia caused by aberrant mRNA splicing, which can be corrected in vitro with antisense oligonucleotide treatment
-
Davis RL, Homer VM, George PM, Brennan SO. A deep intronic mutation in FGB creates a consensus exonic splicing enhancer motif that results in afibrinogenemia caused by aberrant mRNA splicing, which can be corrected in vitro with antisense oligonucleotide treatment. Hum Mutat 2009, 30:221-227.
-
(2009)
Hum Mutat
, vol.30
, pp. 221-227
-
-
Davis, R.L.1
Homer, V.M.2
George, P.M.3
Brennan, S.O.4
-
65
-
-
77951623402
-
Modulation of aberrant NF1 pre-mRNA splicing by kinetin treatment
-
Pros E, Fernandez-Rodriguez J, Benito L, Ravella A, Capella G, Blanco I, Serra E, Lazaro C. Modulation of aberrant NF1 pre-mRNA splicing by kinetin treatment. Eur J Hum Genet 2010, 18:614-617.
-
(2010)
Eur J Hum Genet
, vol.18
, pp. 614-617
-
-
Pros, E.1
Fernandez-Rodriguez, J.2
Benito, L.3
Ravella, A.4
Capella, G.5
Blanco, I.6
Serra, E.7
Lazaro, C.8
-
66
-
-
33646359203
-
Aberrant splicing in the ocular albinism type 1 gene (OA1/GPR143) is corrected in vitro by morpholino antisense oligonucleotides
-
Vetrini F, Tammaro R, Bondanza S, Surace EM, Auricchio A, De Luca M, Ballabio A, Marigo V. Aberrant splicing in the ocular albinism type 1 gene (OA1/GPR143) is corrected in vitro by morpholino antisense oligonucleotides. Hum Mutat 2006, 27:420-426.
-
(2006)
Hum Mutat
, vol.27
, pp. 420-426
-
-
Vetrini, F.1
Tammaro, R.2
Bondanza, S.3
Surace, E.M.4
Auricchio, A.5
De Luca, M.6
Ballabio, A.7
Marigo, V.8
-
67
-
-
0035900725
-
Correction of alternative splicing of tau in frontotemporal dementia and parkinsonism linked to chromosome 17
-
Kalbfuss B, Mabon SA, Misteli T. Correction of alternative splicing of tau in frontotemporal dementia and parkinsonism linked to chromosome 17. J Biol Chem 2001, 276:42986-42993.
-
(2001)
J Biol Chem
, vol.276
, pp. 42986-42993
-
-
Kalbfuss, B.1
Mabon, S.A.2
Misteli, T.3
-
68
-
-
68749092850
-
Correction of tau mis-splicing caused by FTDP-17 MAPT mutations by spliceosome-mediated RNA trans-splicing
-
Rodriguez-Martin T, Anthony K, Garcia-Blanco MA, Mansfield SG, Anderton BH, Gallo JM. Correction of tau mis-splicing caused by FTDP-17 MAPT mutations by spliceosome-mediated RNA trans-splicing. Hum Mol Genet 2009, 18:3266-3273.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 3266-3273
-
-
Rodriguez-Martin, T.1
Anthony, K.2
Garcia-Blanco, M.A.3
Mansfield, S.G.4
Anderton, B.H.5
Gallo, J.M.6
-
69
-
-
78650440393
-
Anti-tumor activity of splice-switching oligonucleotides
-
Bauman JA, Li SD, Yang A, Huang L, Kole R. Anti-tumor activity of splice-switching oligonucleotides. Nucleic Acids Res 2010, 38:8348-8356.
-
(2010)
Nucleic Acids Res
, vol.38
, pp. 8348-8356
-
-
Bauman, J.A.1
Li, S.D.2
Yang, A.3
Huang, L.4
Kole, R.5
-
70
-
-
0345829926
-
Cellular response to an antisense-mediated shift of Bcl-x pre-mRNA splicing and antineoplastic agents
-
Mercatante DR, Mohler JL, Kole R. Cellular response to an antisense-mediated shift of Bcl-x pre-mRNA splicing and antineoplastic agents. J Biol Chem 2002, 277:49374-49382.
-
(2002)
J Biol Chem
, vol.277
, pp. 49374-49382
-
-
Mercatante, D.R.1
Mohler, J.L.2
Kole, R.3
-
71
-
-
0346749521
-
Reprogramming alternative pre-messenger RNA splicing through the use of protein-binding antisense oligonucleotides
-
Villemaire J, Dion I, Elela SA, Chabot B. Reprogramming alternative pre-messenger RNA splicing through the use of protein-binding antisense oligonucleotides. J Biol Chem 2003, 278:50031-50039.
-
(2003)
J Biol Chem
, vol.278
, pp. 50031-50039
-
-
Villemaire, J.1
Dion, I.2
Elela, S.A.3
Chabot, B.4
-
72
-
-
29144514696
-
Chimeric peptide nucleic acid compounds modulate splicing of the bcl-x gene in vitro and in vivo
-
Wilusz JE, Devanney SC, Caputi M. Chimeric peptide nucleic acid compounds modulate splicing of the bcl-x gene in vitro and in vivo. Nucleic Acids Res 2005, 33:6547-6554.
-
(2005)
Nucleic Acids Res
, vol.33
, pp. 6547-6554
-
-
Wilusz, J.E.1
Devanney, S.C.2
Caputi, M.3
-
73
-
-
19544363571
-
Correction of aberrant FGFR1 alternative RNA splicing through targeting of intronic regulatory elements
-
Bruno IG, Jin W, Cote GJ. Correction of aberrant FGFR1 alternative RNA splicing through targeting of intronic regulatory elements. Hum Mol Genet 2004, 13:2409-2420.
-
(2004)
Hum Mol Genet
, vol.13
, pp. 2409-2420
-
-
Bruno, I.G.1
Jin, W.2
Cote, G.J.3
-
74
-
-
70349160026
-
Modification of alternative splicing of Mcl-1 pre-mRNA using antisense morpholino oligonucleotides induces apoptosis in basal cell carcinoma cells
-
Shieh JJ, Liu KT, Huang SW, Chen YJ, Hsieh TY. Modification of alternative splicing of Mcl-1 pre-mRNA using antisense morpholino oligonucleotides induces apoptosis in basal cell carcinoma cells. J Invest Dermatol 2009, 129:2497-2506.
-
(2009)
J Invest Dermatol
, vol.129
, pp. 2497-2506
-
-
Shieh, J.J.1
Liu, K.T.2
Huang, S.W.3
Chen, Y.J.4
Hsieh, T.Y.5
-
75
-
-
77954047794
-
Modulation of mdm2 pre-mRNA splicing by 9-aminoacridine-PNA (peptide nucleic acid) conjugates targeting intron-exon junctions
-
Shiraishi T, Eysturskarth J, Nielsen PE. Modulation of mdm2 pre-mRNA splicing by 9-aminoacridine-PNA (peptide nucleic acid) conjugates targeting intron-exon junctions. BMC Cancer 2010, 10:342.
-
(2010)
BMC Cancer
, vol.10
, pp. 342
-
-
Shiraishi, T.1
Eysturskarth, J.2
Nielsen, P.E.3
-
76
-
-
79958294217
-
Small molecule amiloride modulates oncogenic RNA alternative splicing to devitalize human cancer cells
-
Chang JG, Yang DM, Chang WH, Chow LP, Chan WL, Lin HH, Huang HD, Chang YS, Hung CH, Yang WK. Small molecule amiloride modulates oncogenic RNA alternative splicing to devitalize human cancer cells. PLoS One 2011, 6:e18643.
-
(2011)
PLoS One
, vol.6
-
-
Chang, J.G.1
Yang, D.M.2
Chang, W.H.3
Chow, L.P.4
Chan, W.L.5
Lin, H.H.6
Huang, H.D.7
Chang, Y.S.8
Hung, C.H.9
Yang, W.K.10
-
77
-
-
78751562185
-
Amiloride modulates alternative splicing in leukemic cells and resensitizes Bcr-AblT315I mutant cells to imatinib
-
Chang WH, Liu TC, Yang WK, Lee CC, Lin YH, Chen TY, Chang JG. Amiloride modulates alternative splicing in leukemic cells and resensitizes Bcr-AblT315I mutant cells to imatinib. Cancer Res 2011, 71:383-392.
-
(2011)
Cancer Res
, vol.71
, pp. 383-392
-
-
Chang, W.H.1
Liu, T.C.2
Yang, W.K.3
Lee, C.C.4
Lin, Y.H.5
Chen, T.Y.6
Chang, J.G.7
-
78
-
-
84876449975
-
Manipulation of PK-M mutually exclusive alternative splicing by antisense oligonucleotides.
-
Wang Z, Jeon HY, Rigo F, Bennett CF, Krainer AR. Manipulation of PK-M mutually exclusive alternative splicing by antisense oligonucleotides. Open Biol 2012, 2:120-133.
-
(2012)
Open Biol
, vol.2
, pp. 120-133
-
-
Wang, Z.1
Jeon, H.Y.2
Rigo, F.3
Bennett, C.F.4
Krainer, A.R.5
-
79
-
-
77957302252
-
Pro-metastatic splicing of Ron proto-oncogene mRNA can be reversed: therapeutic potential of bifunctional oligonucleotides and indole derivatives
-
Ghigna C, De Toledo M, Bonomi S, Valacca C, Gallo S, Apicella M, Eperon I, Tazi J, Biamonti G. Pro-metastatic splicing of Ron proto-oncogene mRNA can be reversed: therapeutic potential of bifunctional oligonucleotides and indole derivatives. RNA Biol 2010, 7:495-503.
-
(2010)
RNA Biol
, vol.7
, pp. 495-503
-
-
Ghigna, C.1
De Toledo, M.2
Bonomi, S.3
Valacca, C.4
Gallo, S.5
Apicella, M.6
Eperon, I.7
Tazi, J.8
Biamonti, G.9
-
80
-
-
84867900618
-
PTBP1-dependent regulation of USP5 alternative RNA splicing plays a role in glioblastoma tumorigenesis
-
Izaguirre DI, Zhu W, Hai T, Cheung HC, Krahe R, Cote GJ. PTBP1-dependent regulation of USP5 alternative RNA splicing plays a role in glioblastoma tumorigenesis. Mol Carcinog 2012, 51:895-906.
-
(2012)
Mol Carcinog
, vol.51
, pp. 895-906
-
-
Izaguirre, D.I.1
Zhu, W.2
Hai, T.3
Cheung, H.C.4
Krahe, R.5
Cote, G.J.6
-
81
-
-
77949519556
-
Restoration of full-length SMN promoted by adenoviral vectors expressing RNA antisense oligonucleotides embedded in U7 snRNAs
-
Geib T, Hertel KJ. Restoration of full-length SMN promoted by adenoviral vectors expressing RNA antisense oligonucleotides embedded in U7 snRNAs. PLoS One 2009, 4:e8204.
-
(2009)
PLoS One
, vol.4
-
-
Geib, T.1
Hertel, K.J.2
-
82
-
-
79952348568
-
Antisense oligonucleotides delivered to the mouse CNS ameliorate symptoms of severe spinal muscular atrophy
-
Passini MA, Bu J, Richards AM, Kinnecom C, Sardi SP, Stanek LM, Hua Y, Rigo F, Matson J, Hung G, et al. Antisense oligonucleotides delivered to the mouse CNS ameliorate symptoms of severe spinal muscular atrophy. Sci Transl Med 2011, 3:72ra18.
-
(2011)
Sci Transl Med
, vol.3
-
-
Passini, M.A.1
Bu, J.2
Richards, A.M.3
Kinnecom, C.4
Sardi, S.P.5
Stanek, L.M.6
Hua, Y.7
Rigo, F.8
Matson, J.9
Hung, G.10
-
83
-
-
64549161948
-
Delivery of bifunctional RNAs that target an intronic repressor and increase SMN levels in an animal model of spinal muscular atrophy
-
Baughan TD, Dickson A, Osman EY, Lorson CL. Delivery of bifunctional RNAs that target an intronic repressor and increase SMN levels in an animal model of spinal muscular atrophy. Hum Mol Genet 2009, 18:1600-1611.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 1600-1611
-
-
Baughan, T.D.1
Dickson, A.2
Osman, E.Y.3
Lorson, C.L.4
-
84
-
-
77956639960
-
Splicing regulation of the survival motor neuron genes and implications for treatment of spinal muscular atrophy
-
Bebee TW, Gladman JT, Chandler DS. Splicing regulation of the survival motor neuron genes and implications for treatment of spinal muscular atrophy. Front Biosci 2010, 15:1191-1204.
-
(2010)
Front Biosci
, vol.15
, pp. 1191-1204
-
-
Bebee, T.W.1
Gladman, J.T.2
Chandler, D.S.3
-
85
-
-
79953169568
-
Synthesis and characterization of pseudocantharidins, novel phosphatase modulators that promote the inclusion of exon 7 into the SMN (survival of motoneuron) pre-mRNA
-
Zhang Z, Kelemen O, van Santen MA, Yelton SM, Wendlandt AE, Sviripa VM, Bollen M, Beullens M, Urlaub H, Luhrmann R, et al. Synthesis and characterization of pseudocantharidins, novel phosphatase modulators that promote the inclusion of exon 7 into the SMN (survival of motoneuron) pre-mRNA. J Biol Chem 2011, 286:10126-10136.
-
(2011)
J Biol Chem
, vol.286
, pp. 10126-10136
-
-
Zhang, Z.1
Kelemen, O.2
van Santen, M.A.3
Yelton, S.M.4
Wendlandt, A.E.5
Sviripa, V.M.6
Bollen, M.7
Beullens, M.8
Urlaub, H.9
Luhrmann, R.10
-
86
-
-
74849129866
-
Trans-splicing-mediated improvement in a severe mouse model of spinal muscular atrophy
-
Coady TH, Lorson CL. Trans-splicing-mediated improvement in a severe mouse model of spinal muscular atrophy. J Neurosci 2010, 30:126-130.
-
(2010)
J Neurosci
, vol.30
, pp. 126-130
-
-
Coady, T.H.1
Lorson, C.L.2
-
87
-
-
79951826869
-
Combination of SMN trans-splicing and a neurotrophic factor increases the life span and body mass in a severe model of spinal muscular atrophy
-
Shababi M, Glascock J, Lorson CL. Combination of SMN trans-splicing and a neurotrophic factor increases the life span and body mass in a severe model of spinal muscular atrophy. Hum Gene Ther 2011, 22:135-144.
-
(2011)
Hum Gene Ther
, vol.22
, pp. 135-144
-
-
Shababi, M.1
Glascock, J.2
Lorson, C.L.3
-
88
-
-
49649103244
-
Promotion of BACE1 mRNA alternative splicing reduces amyloid β-peptide production
-
Mowrer KR, Wolfe MS. Promotion of BACE1 mRNA alternative splicing reduces amyloid β-peptide production. J Biol Chem 2008, 283:18694-18701.
-
(2008)
J Biol Chem
, vol.283
, pp. 18694-18701
-
-
Mowrer, K.R.1
Wolfe, M.S.2
-
89
-
-
79959215165
-
SRSF2 is required for sodium butyrate-mediated p21(WAF1) induction and premature senescence in human lung carcinoma cell lines
-
Edmond V, Brambilla C, Brambilla E, Gazzeri S, Eymin B. SRSF2 is required for sodium butyrate-mediated p21(WAF1) induction and premature senescence in human lung carcinoma cell lines. Cell Cycle 2011, 10:1968-1977.
-
(2011)
Cell Cycle
, vol.10
, pp. 1968-1977
-
-
Edmond, V.1
Brambilla, C.2
Brambilla, E.3
Gazzeri, S.4
Eymin, B.5
-
90
-
-
74549134760
-
PNA-mediated modulation and redirection of Her-2 pre-mRNA splicing: specific skipping of erbB-2 exon 19 coding for the ATP catalytic domain
-
Pankratova S, Nielsen BN, Shiraishi T, Nielsen PE. PNA-mediated modulation and redirection of Her-2 pre-mRNA splicing: specific skipping of erbB-2 exon 19 coding for the ATP catalytic domain. Int J Oncol 2010, 36:29-38.
-
(2010)
Int J Oncol
, vol.36
, pp. 29-38
-
-
Pankratova, S.1
Nielsen, B.N.2
Shiraishi, T.3
Nielsen, P.E.4
-
91
-
-
58149465910
-
Modification of HER2 pre-mRNA alternative splicing and its effects on breast cancer cells
-
Wan J, Sazani P, Kole R. Modification of HER2 pre-mRNA alternative splicing and its effects on breast cancer cells. Int J Cancer 2009, 124:772-777.
-
(2009)
Int J Cancer
, vol.124
, pp. 772-777
-
-
Wan, J.1
Sazani, P.2
Kole, R.3
-
92
-
-
84863275784
-
Morpholino-mediated increase in soluble Flt-1 expression results in decreased ocular and tumor neovascularization
-
Owen LA, Uehara H, Cahoon J, Huang W, Simonis J, Ambati BK. Morpholino-mediated increase in soluble Flt-1 expression results in decreased ocular and tumor neovascularization. PloS One 2012, 7:e33576.
-
(2012)
PloS One
, vol.7
-
-
Owen, L.A.1
Uehara, H.2
Cahoon, J.3
Huang, W.4
Simonis, J.5
Ambati, B.K.6
-
93
-
-
80053577349
-
Splicing factor hnRNPH drives an oncogenic splicing switch in gliomas
-
Lefave CV, Squatrito M, Vorlova S, Rocco GL, Brennan CW, Holland EC, Pan YX, Cartegni L. Splicing factor hnRNPH drives an oncogenic splicing switch in gliomas. EMBO J 2011, 30:4084-4097.
-
(2011)
EMBO J
, vol.30
, pp. 4084-4097
-
-
Lefave, C.V.1
Squatrito, M.2
Vorlova, S.3
Rocco, G.L.4
Brennan, C.W.5
Holland, E.C.6
Pan, Y.X.7
Cartegni, L.8
-
94
-
-
80052999677
-
Induction of antagonistic soluble decoy receptor tyrosine kinases by intronic polyA activation
-
Vorlova S, Rocco G, Lefave CV, Jodelka FM, Hess K, Hastings ML, Henke E, Cartegni L. Induction of antagonistic soluble decoy receptor tyrosine kinases by intronic polyA activation. Mol Cell 2011, 43:927-939.
-
(2011)
Mol Cell
, vol.43
, pp. 927-939
-
-
Vorlova, S.1
Rocco, G.2
Lefave, C.V.3
Jodelka, F.M.4
Hess, K.5
Hastings, M.L.6
Henke, E.7
Cartegni, L.8
-
95
-
-
84871910943
-
Dual suppression of hemangiogenesis and lymphangiogenesis by splice-shifting morpholinos targeting vascular endothelial growth factor receptor 2 (KDR)
-
Uehara H, Cho Y, Simonis J, Cahoon J, Archer B, Luo L, Das SK, Singh N, Ambati J, Ambati BK. Dual suppression of hemangiogenesis and lymphangiogenesis by splice-shifting morpholinos targeting vascular endothelial growth factor receptor 2 (KDR). FASEB J 2012, 27:76-85.
-
(2012)
FASEB J
, vol.27
, pp. 76-85
-
-
Uehara, H.1
Cho, Y.2
Simonis, J.3
Cahoon, J.4
Archer, B.5
Luo, L.6
Das, S.K.7
Singh, N.8
Ambati, J.9
Ambati, B.K.10
-
96
-
-
0029002337
-
Sodium butyrate inhibits c-myc splicing and interferes with signal transduction in ovarian carcinoma cells
-
Krupitza G, Harant H, Dittrich E, Szekeres T, Huber H, Dittrich C. Sodium butyrate inhibits c-myc splicing and interferes with signal transduction in ovarian carcinoma cells. Carcinogenesis 1995, 16:1199-1205.
-
(1995)
Carcinogenesis
, vol.16
, pp. 1199-1205
-
-
Krupitza, G.1
Harant, H.2
Dittrich, E.3
Szekeres, T.4
Huber, H.5
Dittrich, C.6
-
97
-
-
34548095157
-
Spliceostatin A targets SF3b and inhibits both splicing and nuclear retention of pre-mRNA
-
Kaida D, Motoyoshi H, Tashiro E, Nojima T, Hagiwara M, Ishigami K, Watanabe H, Kitahara T, Yoshida T, Nakajima H, et al. Spliceostatin A targets SF3b and inhibits both splicing and nuclear retention of pre-mRNA. Nat Chem Biol 2007, 3:576-583.
-
(2007)
Nat Chem Biol
, vol.3
, pp. 576-583
-
-
Kaida, D.1
Motoyoshi, H.2
Tashiro, E.3
Nojima, T.4
Hagiwara, M.5
Ishigami, K.6
Watanabe, H.7
Kitahara, T.8
Yoshida, T.9
Nakajima, H.10
-
98
-
-
34548104659
-
Splicing factor SF3b as a target of the antitumor natural product pladienolide
-
Kotake Y, Sagane K, Owa T, Mimori-Kiyosue Y, Shimizu H, Uesugi M, Ishihama Y, Iwata M, Mizui Y. Splicing factor SF3b as a target of the antitumor natural product pladienolide. Nat Chem Biol 2007, 3:570-575.
-
(2007)
Nat Chem Biol
, vol.3
, pp. 570-575
-
-
Kotake, Y.1
Sagane, K.2
Owa, T.3
Mimori-Kiyosue, Y.4
Shimizu, H.5
Uesugi, M.6
Ishihama, Y.7
Iwata, M.8
Mizui, Y.9
-
99
-
-
77958572450
-
Spliceostatin A blocks angiogenesis by inhibiting global gene expression including VEGF
-
Furumai R, Uchida K, Komi Y, Yoneyama M, Ishigami K, Watanabe H, Kojima S, Yoshida M. Spliceostatin A blocks angiogenesis by inhibiting global gene expression including VEGF. Cancer Sci 2010, 101:2483-2489.
-
(2010)
Cancer Sci
, vol.101
, pp. 2483-2489
-
-
Furumai, R.1
Uchida, K.2
Komi, Y.3
Yoneyama, M.4
Ishigami, K.5
Watanabe, H.6
Kojima, S.7
Yoshida, M.8
-
100
-
-
79952220808
-
Reduced fidelity of branch point recognition and alternative splicing induced by the anti-tumor drug spliceostatin A
-
Corrionero A, Minana B, Valcarcel J. Reduced fidelity of branch point recognition and alternative splicing induced by the anti-tumor drug spliceostatin A. Genes Dev 2011, 25:445-459.
-
(2011)
Genes Dev
, vol.25
, pp. 445-459
-
-
Corrionero, A.1
Minana, B.2
Valcarcel, J.3
-
101
-
-
79961049732
-
Sudemycins, novel small molecule analogues of FR901464, induce alternative gene splicing
-
Fan L, Lagisetti C, Edwards CC, Webb TR, Potter PM. Sudemycins, novel small molecule analogues of FR901464, induce alternative gene splicing. ACS Chem Biol 2011, 6:582-589.
-
(2011)
ACS Chem Biol
, vol.6
, pp. 582-589
-
-
Fan, L.1
Lagisetti, C.2
Edwards, C.C.3
Webb, T.R.4
Potter, P.M.5
-
102
-
-
68849084041
-
Meayamycin inhibits pre-messenger RNA splicing and exhibits picomolar activity against multidrug-resistant cells
-
Albert BJ, McPherson PA, O'Brien K, Czaicki NL, Destefino V, Osman S, Li M, Day BW, Grabowski PJ, Moore MJ, et al. Meayamycin inhibits pre-messenger RNA splicing and exhibits picomolar activity against multidrug-resistant cells. Mol Cancer Ther 2009, 8:2308-2318.
-
(2009)
Mol Cancer Ther
, vol.8
, pp. 2308-2318
-
-
Albert, B.J.1
McPherson, P.A.2
O'Brien, K.3
Czaicki, N.L.4
Destefino, V.5
Osman, S.6
Li, M.7
Day, B.W.8
Grabowski, P.J.9
Moore, M.J.10
-
103
-
-
78651372726
-
Histone deacetylase inhibitors control the transcription and alternative splicing of prohibitin in thyroid tumor cells
-
Puppin C, Passon N, Franzoni A, Russo D, Damante G. Histone deacetylase inhibitors control the transcription and alternative splicing of prohibitin in thyroid tumor cells. Oncol Rep 2011, 25:393-397.
-
(2011)
Oncol Rep
, vol.25
, pp. 393-397
-
-
Puppin, C.1
Passon, N.2
Franzoni, A.3
Russo, D.4
Damante, G.5
-
104
-
-
84861372934
-
C6 pyridinium ceramide influences alternative pre-mRNA splicing by inhibiting protein phosphatase-1
-
Sumanasekera C, Kelemen O, Beullens M, Aubol BE, Adams JA, Sunkara M, Morris A, Bollen M, Andreadis A, Stamm S. C6 pyridinium ceramide influences alternative pre-mRNA splicing by inhibiting protein phosphatase-1. Nucleic Acids Res 2012, 40:4025-4039.
-
(2012)
Nucleic Acids Res
, vol.40
, pp. 4025-4039
-
-
Sumanasekera, C.1
Kelemen, O.2
Beullens, M.3
Aubol, B.E.4
Adams, J.A.5
Sunkara, M.6
Morris, A.7
Bollen, M.8
Andreadis, A.9
Stamm, S.10
-
105
-
-
79955573435
-
Identification of SAP155 as the target of GEX1A (Herboxidiene), an antitumor natural product
-
Hasegawa M, Miura T, Kuzuya K, Inoue A, Won Ki S, Horinouchi S, Yoshida T, Kunoh T, Koseki K, Mino K, et al. Identification of SAP155 as the target of GEX1A (Herboxidiene), an antitumor natural product. ACS Chem Biol 2011, 6:229-233.
-
(2011)
ACS Chem Biol
, vol.6
, pp. 229-233
-
-
Hasegawa, M.1
Miura, T.2
Kuzuya, K.3
Inoue, A.4
Won, K.S.5
Horinouchi, S.6
Yoshida, T.7
Kunoh, T.8
Koseki, K.9
Mino, K.10
-
106
-
-
67949094334
-
Increasing the relative expression of endogenous non-coding Steroid Receptor RNA Activator (SRA) in human breast cancer cells using modified oligonucleotides
-
Cooper C, Guo J, Yan Y, Chooniedass-Kothari S, Hube F, Hamedani MK, Murphy LC, Myal Y, Leygue E. Increasing the relative expression of endogenous non-coding Steroid Receptor RNA Activator (SRA) in human breast cancer cells using modified oligonucleotides. Nucleic Acids Res 2009, 37:4518-4531.
-
(2009)
Nucleic Acids Res
, vol.37
, pp. 4518-4531
-
-
Cooper, C.1
Guo, J.2
Yan, Y.3
Chooniedass-Kothari, S.4
Hube, F.5
Hamedani, M.K.6
Murphy, L.C.7
Myal, Y.8
Leygue, E.9
-
107
-
-
80055072546
-
Antitumorigenic potential of STAT3 alternative splicing modulation
-
Zammarchi F, de Stanchina E, Bournazou E, Supakorndej T, Martires K, Riedel E, Corben AD, Bromberg JF, Cartegni L. Antitumorigenic potential of STAT3 alternative splicing modulation. Proc Natl Acad Sci U S A 2011, 108:17779-17784.
-
(2011)
Proc Natl Acad Sci U S A
, vol.108
, pp. 17779-17784
-
-
Zammarchi, F.1
de Stanchina, E.2
Bournazou, E.3
Supakorndej, T.4
Martires, K.5
Riedel, E.6
Corben, A.D.7
Bromberg, J.F.8
Cartegni, L.9
-
108
-
-
3843059093
-
Oligomer-mediated modulation of hTERT alternative splicing induces telomerase inhibition and cell growth decline in human prostate cancer cells
-
Brambilla C, Folini M, Gandellini P, Daprai L, Daidone MG, Zaffaroni N. Oligomer-mediated modulation of hTERT alternative splicing induces telomerase inhibition and cell growth decline in human prostate cancer cells. Cell Mol Life Sci 2004, 61:1764-1774.
-
(2004)
Cell Mol Life Sci
, vol.61
, pp. 1764-1774
-
-
Brambilla, C.1
Folini, M.2
Gandellini, P.3
Daprai, L.4
Daidone, M.G.5
Zaffaroni, N.6
-
109
-
-
9444239300
-
Disruption of WT1 gene expression and exon 5 splicing following cytotoxic drug treatment: antisense down-regulation of exon 5 alters target gene expression and inhibits cell survival
-
Renshaw J, Orr RM, Walton MI, Te Poele R, Williams RD, Wancewicz EV, Monia BP, Workman P, Pritchard-Jones K. Disruption of WT1 gene expression and exon 5 splicing following cytotoxic drug treatment: antisense down-regulation of exon 5 alters target gene expression and inhibits cell survival. Mol Cancer Ther 2004, 3:1467-1484.
-
(2004)
Mol Cancer Ther
, vol.3
, pp. 1467-1484
-
-
Renshaw, J.1
Orr, R.M.2
Walton, M.I.3
Te Poele, R.4
Williams, R.D.5
Wancewicz, E.V.6
Monia, B.P.7
Workman, P.8
Pritchard-Jones, K.9
-
110
-
-
33846952869
-
Antisense oligonucleotide-induced alternative splicing of the APOB mRNA generates a novel isoform of APOB
-
Khoo B, Roca X, Chew SL, Krainer AR. Antisense oligonucleotide-induced alternative splicing of the APOB mRNA generates a novel isoform of APOB. BMC Mol Biol 2007, 8:3.
-
(2007)
BMC Mol Biol
, vol.8
, pp. 3
-
-
Khoo, B.1
Roca, X.2
Chew, S.L.3
Krainer, A.R.4
-
111
-
-
2542610648
-
Identification and functional validation of PNAs that inhibit murine CD40 expression by redirection of splicing
-
Siwkowski AM, Malik L, Esau CC, Maier MA, Wancewicz EV, Albertshofer K, Monia BP, Bennett CF, Eldrup AB. Identification and functional validation of PNAs that inhibit murine CD40 expression by redirection of splicing. Nucleic Acids Res 2004, 32:2695-2706.
-
(2004)
Nucleic Acids Res
, vol.32
, pp. 2695-2706
-
-
Siwkowski, A.M.1
Malik, L.2
Esau, C.C.3
Maier, M.A.4
Wancewicz, E.V.5
Albertshofer, K.6
Monia, B.P.7
Bennett, C.F.8
Eldrup, A.B.9
-
112
-
-
45749096229
-
An endogenous TNF-α antagonist induced by splice-switching oligonucleotides reduces inflammation in hepatitis and arthritis mouse models
-
Graziewicz MA, Tarrant TK, Buckley B, Roberts J, Fulton L, Hansen H, Orum H, Kole R, Sazani P. An endogenous TNF-α antagonist induced by splice-switching oligonucleotides reduces inflammation in hepatitis and arthritis mouse models. Mol Ther 2008, 16:1316-1322.
-
(2008)
Mol Ther
, vol.16
, pp. 1316-1322
-
-
Graziewicz, M.A.1
Tarrant, T.K.2
Buckley, B.3
Roberts, J.4
Fulton, L.5
Hansen, H.6
Orum, H.7
Kole, R.8
Sazani, P.9
-
113
-
-
0035800055
-
Peptide nucleic acids are potent modulators of endogenous pre-mRNA splicing of the murine interleukin-5 receptor-α chain
-
Karras JG, Maier MA, Lu T, Watt A, Manoharan M. Peptide nucleic acids are potent modulators of endogenous pre-mRNA splicing of the murine interleukin-5 receptor-α chain. Biochemistry 2001, 40:7853-7859.
-
(2001)
Biochemistry
, vol.40
, pp. 7853-7859
-
-
Karras, J.G.1
Maier, M.A.2
Lu, T.3
Watt, A.4
Manoharan, M.5
-
114
-
-
78951481964
-
Inhibition of influenza virus infection in human airway cell cultures by an antisense peptide-conjugated morpholino oligomer targeting the hemagglutinin-activating protease TMPRSS2
-
Bottcher-Friebertshauser E, Stein DA, Klenk HD, Garten W. Inhibition of influenza virus infection in human airway cell cultures by an antisense peptide-conjugated morpholino oligomer targeting the hemagglutinin-activating protease TMPRSS2. J Virol 2011, 85:1554-1562.
-
(2011)
J Virol
, vol.85
, pp. 1554-1562
-
-
Bottcher-Friebertshauser, E.1
Stein, D.A.2
Klenk, H.D.3
Garten, W.4
-
115
-
-
78650892219
-
Antisense-induced myostatin exon skipping leads to muscle hypertrophy in mice following octa-guanidine morpholino oligomer treatment
-
Kang JK, Malerba A, Popplewell L, Foster K, Dickson G. Antisense-induced myostatin exon skipping leads to muscle hypertrophy in mice following octa-guanidine morpholino oligomer treatment. Mol Ther 2011, 19:159-164.
-
(2011)
Mol Ther
, vol.19
, pp. 159-164
-
-
Kang, J.K.1
Malerba, A.2
Popplewell, L.3
Foster, K.4
Dickson, G.5
-
116
-
-
58149182033
-
Antisense RNA sequences modulating the ataxin-1 message: molecular model of gene therapy for spinocerebellar ataxia type 1, a dominant-acting unstable trinucleotide repeat disease
-
Gao Y, Zu T, Low WC, Orr HT, McIvor RS. Antisense RNA sequences modulating the ataxin-1 message: molecular model of gene therapy for spinocerebellar ataxia type 1, a dominant-acting unstable trinucleotide repeat disease. Cell Transplant 2008, 17:723-734.
-
(2008)
Cell Transplant
, vol.17
, pp. 723-734
-
-
Gao, Y.1
Zu, T.2
Low, W.C.3
Orr, H.T.4
McIvor, R.S.5
-
117
-
-
84874301993
-
Exon skipping quantification by qRT-PCR in Duchenne muscular dystrophy patients treated with the antisense oligomer eteplirsen.
-
Anthony K, Feng L, Arechavala-Gomeza V, Guglieri M, Straub V, Bushby K, Cirak S, Morgan J, Muntoni F. Exon skipping quantification by qRT-PCR in Duchenne muscular dystrophy patients treated with the antisense oligomer eteplirsen. Human Gene Ther Methods 2012, 23:336-345.
-
(2012)
Human Gene Ther Methods
, vol.23
, pp. 336-345
-
-
Anthony, K.1
Feng, L.2
Arechavala-Gomeza, V.3
Guglieri, M.4
Straub, V.5
Bushby, K.6
Cirak, S.7
Morgan, J.8
Muntoni, F.9
-
118
-
-
78049472917
-
In-frame dystrophin following exon 51-skipping improves muscle pathology and function in the exon 52-deficient mdx mouse
-
Aoki Y, Nakamura A, Yokota T, Saito T, Okazawa H, Nagata T, Takeda S. In-frame dystrophin following exon 51-skipping improves muscle pathology and function in the exon 52-deficient mdx mouse. Mol Ther 2010, 18:1995-2005.
-
(2010)
Mol Ther
, vol.18
, pp. 1995-2005
-
-
Aoki, Y.1
Nakamura, A.2
Yokota, T.3
Saito, T.4
Okazawa, H.5
Nagata, T.6
Takeda, S.7
-
119
-
-
80051690306
-
Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study
-
Cirak S, Arechavala-Gomeza V, Guglieri M, Feng L, Torelli S, Anthony K, Abbs S, Garralda ME, Bourke J, Wells DJ, et al. Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study. Lancet 2011, 378:595-605.
-
(2011)
Lancet
, vol.378
, pp. 595-605
-
-
Cirak, S.1
Arechavala-Gomeza, V.2
Guglieri, M.3
Feng, L.4
Torelli, S.5
Anthony, K.6
Abbs, S.7
Garralda, M.E.8
Bourke, J.9
Wells, D.J.10
-
120
-
-
33644857020
-
Body-wide gene therapy of Duchenne muscular dystrophy in the mdx mouse model
-
Denti MA, Rosa A, D'Antona G, Sthandier O, De Angelis FG, Nicoletti C, Allocca M, Pansarasa O, Parente V, Musaro A, et al. Body-wide gene therapy of Duchenne muscular dystrophy in the mdx mouse model. Proc Natl Acad Sci U S A 2006, 103:3758-3763.
-
(2006)
Proc Natl Acad Sci U S A
, vol.103
, pp. 3758-3763
-
-
Denti, M.A.1
Rosa, A.2
D'Antona, G.3
Sthandier, O.4
De Angelis, F.G.5
Nicoletti, C.6
Allocca, M.7
Pansarasa, O.8
Parente, V.9
Musaro, A.10
-
121
-
-
79955158683
-
Systemic administration of PRO051 in Duchenne's muscular dystrophy
-
Goemans NM, Tulinius M, van den Akker JT, Burm BE, Ekhart PF, Heuvelmans N, Holling T, Janson AA, Platenburg GJ, Sipkens JA, et al. Systemic administration of PRO051 in Duchenne's muscular dystrophy. N Engl J Med 2011, 364:1513-1522.
-
(2011)
N Engl J Med
, vol.364
, pp. 1513-1522
-
-
Goemans, N.M.1
Tulinius, M.2
van den Akker, J.T.3
Burm, B.E.4
Ekhart, P.F.5
Heuvelmans, N.6
Holling, T.7
Janson, A.A.8
Platenburg, G.J.9
Sipkens, J.A.10
-
122
-
-
70349451258
-
Development of antisense-mediated exon skipping as a treatment for duchenne muscular dystrophy
-
Heemskerk H, de Winter CL, van Ommen GJ, van Deutekom JC, Aartsma-Rus A. Development of antisense-mediated exon skipping as a treatment for duchenne muscular dystrophy. Ann N Y Acad Sci 2009, 1175:71-79.
-
(2009)
Ann N Y Acad Sci
, vol.1175
, pp. 71-79
-
-
Heemskerk, H.1
de Winter, C.L.2
van Ommen, G.J.3
van Deutekom, J.C.4
Aartsma-Rus, A.5
-
123
-
-
33745479703
-
Antisense oligonucleotide-induced exon skipping restores dystrophin expression in vitro in a canine model of DMD
-
McClorey G, Moulton HM, Iversen PL, Fletcher S, Wilton SD. Antisense oligonucleotide-induced exon skipping restores dystrophin expression in vitro in a canine model of DMD. Gene Ther 2006, 13:1373-1381.
-
(2006)
Gene Ther
, vol.13
, pp. 1373-1381
-
-
McClorey, G.1
Moulton, H.M.2
Iversen, P.L.3
Fletcher, S.4
Wilton, S.D.5
-
124
-
-
70350731131
-
Exon skipping-mediated dystrophin reading frame restoration for small mutations
-
Spitali P, Rimessi P, Fabris M, Perrone D, Falzarano S, Bovolenta M, Trabanelli C, Mari L, Bassi E, Tuffery S, et al. Exon skipping-mediated dystrophin reading frame restoration for small mutations. Hum Mutat 2009, 30:1527-1534.
-
(2009)
Hum Mutat
, vol.30
, pp. 1527-1534
-
-
Spitali, P.1
Rimessi, P.2
Fabris, M.3
Perrone, D.4
Falzarano, S.5
Bovolenta, M.6
Trabanelli, C.7
Mari, L.8
Bassi, E.9
Tuffery, S.10
-
125
-
-
77950518145
-
Optimization of peptide nucleic acid antisense oligonucleotides for local and systemic dystrophin splice correction in the mdx mouse
-
Yin H, Betts C, Saleh AF, Ivanova GD, Lee H, Seow Y, Kim D, Gait MJ, Wood MJ. Optimization of peptide nucleic acid antisense oligonucleotides for local and systemic dystrophin splice correction in the mdx mouse. Mol Ther 2010, 18:819-827.
-
(2010)
Mol Ther
, vol.18
, pp. 819-827
-
-
Yin, H.1
Betts, C.2
Saleh, A.F.3
Ivanova, G.D.4
Lee, H.5
Seow, Y.6
Kim, D.7
Gait, M.J.8
Wood, M.J.9
-
126
-
-
84859867996
-
Overview on DMD exon skipping
-
Aartsma-Rus A. Overview on DMD exon skipping. Methods Mol Biol 2012, 867:97-116.
-
(2012)
Methods Mol Biol
, vol.867
, pp. 97-116
-
-
Aartsma-Rus, A.1
-
127
-
-
77949512149
-
Identification of small molecule and genetic modulators of AON-induced dystrophin exon skipping by high-throughput screening
-
O'Leary DA, Sharif O, Anderson P, Tu B, Welch G, Zhou Y, Caldwell JS, Engels IH, Brinker A. Identification of small molecule and genetic modulators of AON-induced dystrophin exon skipping by high-throughput screening. PLoS One 2009, 4:e8348.
-
(2009)
PLoS One
, vol.4
-
-
O'Leary, D.A.1
Sharif, O.2
Anderson, P.3
Tu, B.4
Welch, G.5
Zhou, Y.6
Caldwell, J.S.7
Engels, I.H.8
Brinker, A.9
-
128
-
-
33751119265
-
Targeted skipping of a single exon harboring a premature termination codon mutation: implications and potential for gene correction therapy for selective dystrophic epidermolysis bullosa patients
-
Goto M, Sawamura D, Nishie W, Sakai K, McMillan JR, Akiyama M, Shimizu H. Targeted skipping of a single exon harboring a premature termination codon mutation: implications and potential for gene correction therapy for selective dystrophic epidermolysis bullosa patients. J Invest Dermatol 2006, 126:2614-2620.
-
(2006)
J Invest Dermatol
, vol.126
, pp. 2614-2620
-
-
Goto, M.1
Sawamura, D.2
Nishie, W.3
Sakai, K.4
McMillan, J.R.5
Akiyama, M.6
Shimizu, H.7
-
129
-
-
78650297492
-
Functional correction of type VII collagen expression in dystrophic epidermolysis bullosa
-
Murauer EM, Gache Y, Gratz IK, Klausegger A, Muss W, Gruber C, Meneguzzi G, Hintner H, Bauer JW. Functional correction of type VII collagen expression in dystrophic epidermolysis bullosa. J Invest Dermatol 2011, 131:74-83.
-
(2011)
J Invest Dermatol
, vol.131
, pp. 74-83
-
-
Murauer, E.M.1
Gache, Y.2
Gratz, I.K.3
Klausegger, A.4
Muss, W.5
Gruber, C.6
Meneguzzi, G.7
Hintner, H.8
Bauer, J.W.9
-
130
-
-
75149170176
-
Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping
-
Wein N, Avril A, Bartoli M, Beley C, Chaouch S, Laforet P, Behin A, Butler-Browne G, Mouly V, Krahn M, et al. Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping. Hum Mutat 2010, 31:136-142.
-
(2010)
Hum Mutat
, vol.31
, pp. 136-142
-
-
Wein, N.1
Avril, A.2
Bartoli, M.3
Beley, C.4
Chaouch, S.5
Laforet, P.6
Behin, A.7
Butler-Browne, G.8
Mouly, V.9
Krahn, M.10
-
131
-
-
76149138842
-
Alternative splicing: role of pseudoexons in human disease and potential therapeutic strategies
-
Dhir A, Buratti E. Alternative splicing: role of pseudoexons in human disease and potential therapeutic strategies. FEBS J 2010, 277:841-855.
-
(2010)
FEBS J
, vol.277
, pp. 841-855
-
-
Dhir, A.1
Buratti, E.2
-
132
-
-
34247388843
-
Enhancement of SMN2 exon 7 inclusion by antisense oligonucleotides targeting the exon
-
Hua Y, Vickers TA, Baker BF, Bennett CF, Krainer AR. Enhancement of SMN2 exon 7 inclusion by antisense oligonucleotides targeting the exon. PLoS Biol 2007, 5:e73.
-
(2007)
PLoS Biol
, vol.5
-
-
Hua, Y.1
Vickers, T.A.2
Baker, B.F.3
Bennett, C.F.4
Krainer, A.R.5
-
133
-
-
67650480122
-
A short antisense oligonucleotide masking a unique intronic motif prevents skipping of a critical exon in spinal muscular atrophy
-
Singh NN, Shishimorova M, Cao LC, Gangwani L, Singh RN. A short antisense oligonucleotide masking a unique intronic motif prevents skipping of a critical exon in spinal muscular atrophy. RNA Biol 2009, 6:341-350.
-
(2009)
RNA Biol
, vol.6
, pp. 341-350
-
-
Singh, N.N.1
Shishimorova, M.2
Cao, L.C.3
Gangwani, L.4
Singh, R.N.5
-
134
-
-
67449135902
-
Oligonucleotide-mediated survival of motor neuron protein expression in CNS improves phenotype in a mouse model of spinal muscular atrophy
-
Williams JH, Schray RC, Patterson CA, Ayitey SO, Tallent MK, Lutz GJ. Oligonucleotide-mediated survival of motor neuron protein expression in CNS improves phenotype in a mouse model of spinal muscular atrophy. J Neurosci 2009, 29:7633-7638.
-
(2009)
J Neurosci
, vol.29
, pp. 7633-7638
-
-
Williams, J.H.1
Schray, R.C.2
Patterson, C.A.3
Ayitey, S.O.4
Tallent, M.K.5
Lutz, G.J.6
-
135
-
-
77749301118
-
Tetracyclines that promote SMN2 exon 7 splicing as therapeutics for spinal muscular atrophy
-
Hastings ML, Berniac J, Liu YH, Abato P, Jodelka FM, Barthel L, Kumar S, Dudley C, Nelson M, Larson K, et al. Tetracyclines that promote SMN2 exon 7 splicing as therapeutics for spinal muscular atrophy. Sci Transl Med 2009, 1:5ra12.
-
(2009)
Sci Transl Med
, vol.1
-
-
Hastings, M.L.1
Berniac, J.2
Liu, Y.H.3
Abato, P.4
Jodelka, F.M.5
Barthel, L.6
Kumar, S.7
Dudley, C.8
Nelson, M.9
Larson, K.10
-
136
-
-
84859971554
-
The cardiotonic steroid digitoxin regulates alternative splicing through depletion of the splicing factors SRSF3 and TRA2B
-
Anderson ES, Lin CH, Xiao X, Stoilov P, Burge CB, Black DL. The cardiotonic steroid digitoxin regulates alternative splicing through depletion of the splicing factors SRSF3 and TRA2B. RNA 2012, 18:1041-1049.
-
(2012)
RNA
, vol.18
, pp. 1041-1049
-
-
Anderson, E.S.1
Lin, C.H.2
Xiao, X.3
Stoilov, P.4
Burge, C.B.5
Black, D.L.6
-
138
-
-
84868091622
-
SF3B1 haploinsufficiency leads to formation of ring sideroblasts in myelodysplastic syndromes
-
Visconte V, Rogers HJ, Singh J, Barnard J, Bupathi M, Traina F, McMahon J, Makishima H, Szpurka H, Jankowska A, et al. SF3B1 haploinsufficiency leads to formation of ring sideroblasts in myelodysplastic syndromes. Blood 2012, 120:3173-3186.
-
(2012)
Blood
, vol.120
, pp. 3173-3186
-
-
Visconte, V.1
Rogers, H.J.2
Singh, J.3
Barnard, J.4
Bupathi, M.5
Traina, F.6
McMahon, J.7
Makishima, H.8
Szpurka, H.9
Jankowska, A.10
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