-
1
-
-
1842586020
-
Premature stop codons involved in muscular dystrophies show a broad spectrum of readthrough efficiencies in response to gentamicin treatment
-
Bidou L., et al. Premature stop codons involved in muscular dystrophies show a broad spectrum of readthrough efficiencies in response to gentamicin treatment. Gene Ther. 2004, 11:619-627.
-
(2004)
Gene Ther.
, vol.11
, pp. 619-627
-
-
Bidou, L.1
-
2
-
-
0033854425
-
Sequence specificity of aminoglycoside-induced stop condon readthrough: potential implications for treatment of Duchenne muscular dystrophy
-
Howard M.T., et al. Sequence specificity of aminoglycoside-induced stop condon readthrough: potential implications for treatment of Duchenne muscular dystrophy. Ann. Neurol. 2000, 48:164-169.
-
(2000)
Ann. Neurol.
, vol.48
, pp. 164-169
-
-
Howard, M.T.1
-
3
-
-
0033929810
-
Aminoglycoside antibiotics mediate context-dependent suppression of termination codons in a mammalian translation system
-
Manuvakhova M., et al. Aminoglycoside antibiotics mediate context-dependent suppression of termination codons in a mammalian translation system. RNA 2000, 6:1044-1055.
-
(2000)
RNA
, vol.6
, pp. 1044-1055
-
-
Manuvakhova, M.1
-
4
-
-
84859239887
-
Statistical analysis of readthrough levels for nonsense mutations in mammalian cells reveals a major determinant of response to gentamicin
-
Floquet C., et al. Statistical analysis of readthrough levels for nonsense mutations in mammalian cells reveals a major determinant of response to gentamicin. PLoS Genet. 2012, 8:e1002608.
-
(2012)
PLoS Genet.
, vol.8
-
-
Floquet, C.1
-
5
-
-
0032720705
-
Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice
-
Barton-Davis E.R., et al. Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice. J. Clin. Invest. 1999, 104:375-381.
-
(1999)
J. Clin. Invest.
, vol.104
, pp. 375-381
-
-
Barton-Davis, E.R.1
-
6
-
-
54849413018
-
Introducing sense into nonsense in treatments of human genetic diseases
-
Linde L., Kerem B. Introducing sense into nonsense in treatments of human genetic diseases. Trends Genet. 2008, 24:552-563.
-
(2008)
Trends Genet.
, vol.24
, pp. 552-563
-
-
Linde, L.1
Kerem, B.2
-
7
-
-
33845996905
-
Aminoglycoside-induced translational read-through in disease: overcoming nonsense mutations by pharmacogenetic therapy
-
Zingman L.V., et al. Aminoglycoside-induced translational read-through in disease: overcoming nonsense mutations by pharmacogenetic therapy. Clin. Pharmacol. Ther. 2007, 81:99-103.
-
(2007)
Clin. Pharmacol. Ther.
, vol.81
, pp. 99-103
-
-
Zingman, L.V.1
-
8
-
-
0034961464
-
Evidence that systemic gentamicin suppresses premature stop mutations in patients with cystic fibrosis
-
Clancy J.P., et al. Evidence that systemic gentamicin suppresses premature stop mutations in patients with cystic fibrosis. Am. J. Respir. Crit. Care Med. 2001, 163:1683-1692.
-
(2001)
Am. J. Respir. Crit. Care Med.
, vol.163
, pp. 1683-1692
-
-
Clancy, J.P.1
-
9
-
-
0043092426
-
Gentamicin administration in Duchenne patients with premature stop codon. Preliminary results
-
Politano L., et al. Gentamicin administration in Duchenne patients with premature stop codon. Preliminary results. Acta Myol. 2003, 22:15-21.
-
(2003)
Acta Myol.
, vol.22
, pp. 15-21
-
-
Politano, L.1
-
10
-
-
0034982292
-
Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations
-
Wagner K.R., et al. Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations. Ann. Neurol. 2001, 49:706-711.
-
(2001)
Ann. Neurol.
, vol.49
, pp. 706-711
-
-
Wagner, K.R.1
-
11
-
-
0034073736
-
A pilot study of the effect of gentamicin on nasal potential difference measurements in cystic fibrosis patients carrying stop mutations
-
Wilschanski M., et al. A pilot study of the effect of gentamicin on nasal potential difference measurements in cystic fibrosis patients carrying stop mutations. Am. J. Respir. Crit. Care Med. 2000, 161:860-865.
-
(2000)
Am. J. Respir. Crit. Care Med.
, vol.161
, pp. 860-865
-
-
Wilschanski, M.1
-
12
-
-
77952938084
-
Gentamicin-induced readthrough of stop codons in Duchenne muscular dystrophy
-
Malik V., et al. Gentamicin-induced readthrough of stop codons in Duchenne muscular dystrophy. Ann. Neurol. 2010, 67:771-780.
-
(2010)
Ann. Neurol.
, vol.67
, pp. 771-780
-
-
Malik, V.1
-
13
-
-
34247200483
-
In vitro prediction of stop-codon suppression by intravenous gentamicin in patients with cystic fibrosis: a pilot study
-
Sermet-Gaudelus I., et al. In vitro prediction of stop-codon suppression by intravenous gentamicin in patients with cystic fibrosis: a pilot study. BMC Med. 2007, 5:5.
-
(2007)
BMC Med.
, vol.5
, pp. 5
-
-
Sermet-Gaudelus, I.1
-
14
-
-
49149098054
-
A meta-analysis of nonsense mutations causing human genetic disease
-
Mort M., et al. A meta-analysis of nonsense mutations causing human genetic disease. Hum. Mutat. 2008, 29:1037-1047.
-
(2008)
Hum. Mutat.
, vol.29
, pp. 1037-1047
-
-
Mort, M.1
-
15
-
-
65449188724
-
Poly-L-aspartic acid enhances and prolongs gentamicin-mediated suppression of the CFTR-G542X mutation in a cystic fibrosis mouse model
-
Du M., et al. Poly-L-aspartic acid enhances and prolongs gentamicin-mediated suppression of the CFTR-G542X mutation in a cystic fibrosis mouse model. J. Biol. Chem. 2009, 284:6885-6892.
-
(2009)
J. Biol. Chem.
, vol.284
, pp. 6885-6892
-
-
Du, M.1
-
16
-
-
21044457721
-
Prevention of neomycin-induced nephrotoxic event in pig proximal tubular epithelial cell line by apolipoprotein E3
-
Takamoto K., et al. Prevention of neomycin-induced nephrotoxic event in pig proximal tubular epithelial cell line by apolipoprotein E3. J. Antibiot. (Tokyo) 2005, 58:353-355.
-
(2005)
J. Antibiot. (Tokyo)
, vol.58
, pp. 353-355
-
-
Takamoto, K.1
-
17
-
-
77953133544
-
Repairing faulty genes by aminoglycosides: development of new derivatives of geneticin (G418) with enhanced suppression of diseases-causing nonsense mutations
-
Nudelman I., et al. Repairing faulty genes by aminoglycosides: development of new derivatives of geneticin (G418) with enhanced suppression of diseases-causing nonsense mutations. Bioorg. Med. Chem. 2010, 18:3735-3746.
-
(2010)
Bioorg. Med. Chem.
, vol.18
, pp. 3735-3746
-
-
Nudelman, I.1
-
18
-
-
1942470550
-
Crystal structure and functional analysis of the eukaryotic class II release factor eRF3 from S. pombe
-
Kong C., et al. Crystal structure and functional analysis of the eukaryotic class II release factor eRF3 from S. pombe. Mol. Cell 2004, 14:233-245.
-
(2004)
Mol. Cell
, vol.14
, pp. 233-245
-
-
Kong, C.1
-
19
-
-
77953216857
-
NMR solution structure and function of the C-terminal domain of eukaryotic class 1 polypeptide chain release factor
-
Mantsyzov A.B., et al. NMR solution structure and function of the C-terminal domain of eukaryotic class 1 polypeptide chain release factor. FEBS J. 2010, 277:2611-2627.
-
(2010)
FEBS J.
, vol.277
, pp. 2611-2627
-
-
Mantsyzov, A.B.1
-
20
-
-
0034603210
-
The crystal structure of human eukaryotic release factor eRF1-mechanism of stop codon recognition and peptidyl-tRNA hydrolysis
-
Song H., et al. The crystal structure of human eukaryotic release factor eRF1-mechanism of stop codon recognition and peptidyl-tRNA hydrolysis. Cell 2000, 100:311-321.
-
(2000)
Cell
, vol.100
, pp. 311-321
-
-
Song, H.1
-
21
-
-
77956553901
-
Decoding accuracy in eRF1 mutants and its correlation with pleiotropic quantitative traits in yeast
-
Merritt G.H., et al. Decoding accuracy in eRF1 mutants and its correlation with pleiotropic quantitative traits in yeast. Nucleic Acids Res. 2010, 38:5479-5492.
-
(2010)
Nucleic Acids Res.
, vol.38
, pp. 5479-5492
-
-
Merritt, G.H.1
-
22
-
-
64549115744
-
Molecular dissection of translation termination mechanism identifies two new critical regions in eRF1
-
Hatin I., et al. Molecular dissection of translation termination mechanism identifies two new critical regions in eRF1. Nucleic Acids Res. 2009, 37:1789-1798.
-
(2009)
Nucleic Acids Res.
, vol.37
, pp. 1789-1798
-
-
Hatin, I.1
-
23
-
-
0033827056
-
Terminating eukaryote translation: domain 1 of release factor eRF1 functions in stop codon recognition
-
Bertram G., et al. Terminating eukaryote translation: domain 1 of release factor eRF1 functions in stop codon recognition. RNA 2000, 6:1236-1247.
-
(2000)
RNA
, vol.6
, pp. 1236-1247
-
-
Bertram, G.1
-
24
-
-
44449153482
-
Distinct eRF3 requirements suggest alternate eRF1 conformations mediate peptide release during eukaryotic translation termination
-
Fan-Minogue H., et al. Distinct eRF3 requirements suggest alternate eRF1 conformations mediate peptide release during eukaryotic translation termination. Mol. Cell 2008, 30:599-609.
-
(2008)
Mol. Cell
, vol.30
, pp. 599-609
-
-
Fan-Minogue, H.1
-
25
-
-
34547797392
-
Eukaryotic class 1 translation termination factor eRF1--the NMR structure and dynamics of the middle domain involved in triggering ribosome-dependent peptidyl-tRNA hydrolysis
-
Ivanova E.V., et al. Eukaryotic class 1 translation termination factor eRF1--the NMR structure and dynamics of the middle domain involved in triggering ribosome-dependent peptidyl-tRNA hydrolysis. FEBS J. 2007, 274:4223-4237.
-
(2007)
FEBS J.
, vol.274
, pp. 4223-4237
-
-
Ivanova, E.V.1
-
26
-
-
0037223622
-
The essential role of the invariant GGQ motif in the function and stability in vivo of bacterial release factors RF1 and RF2
-
Mora L., et al. The essential role of the invariant GGQ motif in the function and stability in vivo of bacterial release factors RF1 and RF2. Mol. Microbiol. 2003, 47:267-275.
-
(2003)
Mol. Microbiol.
, vol.47
, pp. 267-275
-
-
Mora, L.1
-
27
-
-
0035476654
-
Class-1 translation termination factors: invariant GGQ minidomain is essential for release activity and ribosome binding but not for stop codon recognition
-
Seit-Nebi A., et al. Class-1 translation termination factors: invariant GGQ minidomain is essential for release activity and ribosome binding but not for stop codon recognition. Nucleic Acids Res. 2001, 29:3982-3987.
-
(2001)
Nucleic Acids Res.
, vol.29
, pp. 3982-3987
-
-
Seit-Nebi, A.1
-
28
-
-
0032937983
-
The C-terminus of eRF1 defines a functionally important domain for translation termination in Saccharomyces cerevisiae
-
Eurwilaichitr L., et al. The C-terminus of eRF1 defines a functionally important domain for translation termination in Saccharomyces cerevisiae. Mol. Microbiol. 1999, 32:485-496.
-
(1999)
Mol. Microbiol.
, vol.32
, pp. 485-496
-
-
Eurwilaichitr, L.1
-
29
-
-
33744993160
-
In vitro reconstitution of eukaryotic translation reveals cooperativity between release factors eRF1 and eRF3
-
Alkalaeva E.Z., et al. In vitro reconstitution of eukaryotic translation reveals cooperativity between release factors eRF1 and eRF3. Cell 2006, 125:1125-1136.
-
(2006)
Cell
, vol.125
, pp. 1125-1136
-
-
Alkalaeva, E.Z.1
-
30
-
-
33845992204
-
Kinetic analysis of interaction of eukaryotic release factor 3 with guanine nucleotides
-
Pisareva V.P., et al. Kinetic analysis of interaction of eukaryotic release factor 3 with guanine nucleotides. J. Biol. Chem. 2006, 281:40224-40235.
-
(2006)
J. Biol. Chem.
, vol.281
, pp. 40224-40235
-
-
Pisareva, V.P.1
-
31
-
-
4344677977
-
GTP hydrolysis by eRF3 facilitates stop codon decoding during eukaryotic translation termination
-
Salas-Marco J., Bedwell D.M. GTP hydrolysis by eRF3 facilitates stop codon decoding during eukaryotic translation termination. Mol. Cell. Biol. 2004, 24:7769-7778.
-
(2004)
Mol. Cell. Biol.
, vol.24
, pp. 7769-7778
-
-
Salas-Marco, J.1
Bedwell, D.M.2
-
32
-
-
65449127059
-
Structural insights into eRF3 and stop codon recognition by eRF1
-
Cheng Z., et al. Structural insights into eRF3 and stop codon recognition by eRF1. Genes Dev. 2009, 23:1106-1118.
-
(2009)
Genes Dev.
, vol.23
, pp. 1106-1118
-
-
Cheng, Z.1
-
33
-
-
83855162728
-
The structure of the eukaryotic ribosome at 3.0 A resolution
-
Ben-Shem A., et al. The structure of the eukaryotic ribosome at 3.0 A resolution. Science 2011, 334:1524-1529.
-
(2011)
Science
, vol.334
, pp. 1524-1529
-
-
Ben-Shem, A.1
-
34
-
-
29244487090
-
Crystal structures of the ribosome in complex with release factors RF1 and RF2 bound to a cognate stop codon
-
Petry S., et al. Crystal structures of the ribosome in complex with release factors RF1 and RF2 bound to a cognate stop codon. Cell 2005, 123:1255-1266.
-
(2005)
Cell
, vol.123
, pp. 1255-1266
-
-
Petry, S.1
-
35
-
-
0347721768
-
A cryo-electron microscopic study of ribosome-bound termination factor RF2
-
Rawat U.B., et al. A cryo-electron microscopic study of ribosome-bound termination factor RF2. Nature 2003, 421:87-90.
-
(2003)
Nature
, vol.421
, pp. 87-90
-
-
Rawat, U.B.1
-
36
-
-
34548227759
-
A model for how ribosomal release factors induce peptidyl-tRNA cleavage in termination of protein synthesis
-
Trobro S., Aqvist J. A model for how ribosomal release factors induce peptidyl-tRNA cleavage in termination of protein synthesis. Mol. Cell 2007, 27:758-766.
-
(2007)
Mol. Cell
, vol.27
, pp. 758-766
-
-
Trobro, S.1
Aqvist, J.2
-
37
-
-
0034628438
-
A tripeptide 'anticodon' deciphers stop codons in messenger RNA
-
Ito K., et al. A tripeptide 'anticodon' deciphers stop codons in messenger RNA. Nature 2000, 403:680-684.
-
(2000)
Nature
, vol.403
, pp. 680-684
-
-
Ito, K.1
-
38
-
-
0036810254
-
Release of peptide promoted by the GGQ motif of class 1 release factors regulates the GTPase activity of RF3
-
Zavialov A.V., et al. Release of peptide promoted by the GGQ motif of class 1 release factors regulates the GTPase activity of RF3. Mol. Cell 2002, 10:789-798.
-
(2002)
Mol. Cell
, vol.10
, pp. 789-798
-
-
Zavialov, A.V.1
-
39
-
-
49649099901
-
Structural basis for translation termination on the 70S ribosome
-
Laurberg M., et al. Structural basis for translation termination on the 70S ribosome. Nature 2008, 454:852-857.
-
(2008)
Nature
, vol.454
, pp. 852-857
-
-
Laurberg, M.1
-
40
-
-
55849143658
-
Insights into translational termination from the structure of RF2 bound to the ribosome
-
Weixlbaumer A., et al. Insights into translational termination from the structure of RF2 bound to the ribosome. Science 2008, 322:953-956.
-
(2008)
Science
, vol.322
, pp. 953-956
-
-
Weixlbaumer, A.1
-
41
-
-
0032226544
-
Aminoglycoside antibiotics. Structures, functions, and resistance
-
Wright G.D., et al. Aminoglycoside antibiotics. Structures, functions, and resistance. Adv. Exp. Med. Biol. 1998, 456:27-69.
-
(1998)
Adv. Exp. Med. Biol.
, vol.456
, pp. 27-69
-
-
Wright, G.D.1
-
42
-
-
27244458194
-
Crystal structures of complexes between aminoglycosides and decoding A site oligonucleotides: role of the number of rings and positive charges in the specific binding leading to miscoding
-
Francois B., et al. Crystal structures of complexes between aminoglycosides and decoding A site oligonucleotides: role of the number of rings and positive charges in the specific binding leading to miscoding. Nucleic Acids Res. 2005, 33:5677-5690.
-
(2005)
Nucleic Acids Res.
, vol.33
, pp. 5677-5690
-
-
Francois, B.1
-
43
-
-
0025070318
-
Binding of tRNA to the ribosomal A and P sites protects two distinct sets of nucleotides in 16 S rRNA
-
Moazed D., Noller H.F. Binding of tRNA to the ribosomal A and P sites protects two distinct sets of nucleotides in 16 S rRNA. J. Mol. Biol. 1990, 211:135-145.
-
(1990)
J. Mol. Biol.
, vol.211
, pp. 135-145
-
-
Moazed, D.1
Noller, H.F.2
-
44
-
-
0033543589
-
Recognition of the codon-anticodon helix by ribosomal RNA
-
Yoshizawa S., et al. Recognition of the codon-anticodon helix by ribosomal RNA. Science 1999, 285:1722-1725.
-
(1999)
Science
, vol.285
, pp. 1722-1725
-
-
Yoshizawa, S.1
-
45
-
-
84859593945
-
A new understanding of the decoding principle on the ribosome
-
Demeshkina N., et al. A new understanding of the decoding principle on the ribosome. Nature 2012, 484:256-259.
-
(2012)
Nature
, vol.484
, pp. 256-259
-
-
Demeshkina, N.1
-
46
-
-
0142075322
-
The molecular basis for A-site mutations conferring aminoglycoside resistance: relationship between ribosomal susceptibility and X-ray crystal structures
-
Pfister P., et al. The molecular basis for A-site mutations conferring aminoglycoside resistance: relationship between ribosomal susceptibility and X-ray crystal structures. Chembiochem 2003, 4:1078-1088.
-
(2003)
Chembiochem
, vol.4
, pp. 1078-1088
-
-
Pfister, P.1
-
47
-
-
0030702773
-
Suppression of a CFTR premature stop mutation in a bronchial epithelial cell line
-
Bedwell D.M., et al. Suppression of a CFTR premature stop mutation in a bronchial epithelial cell line. Nat. Med. 1997, 3:1280-1284.
-
(1997)
Nat. Med.
, vol.3
, pp. 1280-1284
-
-
Bedwell, D.M.1
-
48
-
-
0031013486
-
Aminoglycoside nephrotoxicity
-
Swan S.K. Aminoglycoside nephrotoxicity. Semin. Nephrol. 1997, 17:27-33.
-
(1997)
Semin. Nephrol.
, vol.17
, pp. 27-33
-
-
Swan, S.K.1
-
50
-
-
0029598756
-
Formation of free radicals by gentamicin and iron and evidence for an iron/gentamicin complex
-
Priuska E.M., Schacht J. Formation of free radicals by gentamicin and iron and evidence for an iron/gentamicin complex. Biochem. Pharmacol. 1995, 50:1749-1752.
-
(1995)
Biochem. Pharmacol.
, vol.50
, pp. 1749-1752
-
-
Priuska, E.M.1
Schacht, J.2
-
51
-
-
1342286071
-
The major 5' determinant in stop codon read-through involves two adjacent adenines
-
Tork S., et al. The major 5' determinant in stop codon read-through involves two adjacent adenines. Nucleic Acids Res. 2004, 32:415-421.
-
(2004)
Nucleic Acids Res.
, vol.32
, pp. 415-421
-
-
Tork, S.1
-
52
-
-
0034779875
-
Impact of the six nucleotides downstream of the stop codon on translation termination
-
Namy O., et al. Impact of the six nucleotides downstream of the stop codon on translation termination. EMBO Rep. 2001, 2:787-793.
-
(2001)
EMBO Rep.
, vol.2
, pp. 787-793
-
-
Namy, O.1
-
53
-
-
0014759158
-
A new antibiotic, negamycin
-
Hamada M., et al. A new antibiotic, negamycin. J. Antibiot. (Tokyo) 1970, 23:170-171.
-
(1970)
J. Antibiot. (Tokyo)
, vol.23
, pp. 170-171
-
-
Hamada, M.1
-
54
-
-
0016299512
-
Negamycin inhibits termination of protein synthesis directed by phage f2 RNA in vitro
-
Uehara Y., et al. Negamycin inhibits termination of protein synthesis directed by phage f2 RNA in vitro. Biochim. Biophys. Acta 1974, 374:82-95.
-
(1974)
Biochim. Biophys. Acta
, vol.374
, pp. 82-95
-
-
Uehara, Y.1
-
55
-
-
0347993773
-
Negamycin restores dystrophin expression in skeletal and cardiac muscles of mdx mice
-
Arakawa M., et al. Negamycin restores dystrophin expression in skeletal and cardiac muscles of mdx mice. J. Biochem. 2003, 134:751-758.
-
(2003)
J. Biochem.
, vol.134
, pp. 751-758
-
-
Arakawa, M.1
-
56
-
-
36749023383
-
Negamycin binds to the wall of the nascent chain exit tunnel of the 50S ribosomal subunit
-
Schroeder S.J., et al. Negamycin binds to the wall of the nascent chain exit tunnel of the 50S ribosomal subunit. Antimicrob. Agents Chemother. 2007, 51:4462-4465.
-
(2007)
Antimicrob. Agents Chemother.
, vol.51
, pp. 4462-4465
-
-
Schroeder, S.J.1
-
57
-
-
39449127401
-
Drug-induced readthrough of premature stop codons leads to the stabilization of laminin α2 chain mRNA in CMD myotubes
-
Allamand V., et al. Drug-induced readthrough of premature stop codons leads to the stabilization of laminin α2 chain mRNA in CMD myotubes. J. Gene Med. 2008, 10:217-224.
-
(2008)
J. Gene Med.
, vol.10
, pp. 217-224
-
-
Allamand, V.1
-
58
-
-
68649089108
-
Pharmaceuticals targeting nonsense mutations in genetic diseases: progress in development
-
Rowe S.M., Clancy J.P. Pharmaceuticals targeting nonsense mutations in genetic diseases: progress in development. BioDrugs 2009, 23:165-174.
-
(2009)
BioDrugs
, vol.23
, pp. 165-174
-
-
Rowe, S.M.1
Clancy, J.P.2
-
59
-
-
34247588271
-
PTC124 targets genetic disorders caused by nonsense mutations
-
Welch E.M., et al. PTC124 targets genetic disorders caused by nonsense mutations. Nature 2007, 447:87-91.
-
(2007)
Nature
, vol.447
, pp. 87-91
-
-
Welch, E.M.1
-
60
-
-
77950430317
-
Molecular basis for the high-affinity binding and stabilization of firefly luciferase by PTC124
-
Auld D.S., et al. Molecular basis for the high-affinity binding and stabilization of firefly luciferase by PTC124. Proc. Natl. Acad. Sci. U.S.A. 2010, 107:4878-4883.
-
(2010)
Proc. Natl. Acad. Sci. U.S.A.
, vol.107
, pp. 4878-4883
-
-
Auld, D.S.1
-
61
-
-
62549134976
-
Mechanism of PTC124 activity in cell-based luciferase assays of nonsense codon suppression
-
Auld D.S., et al. Mechanism of PTC124 activity in cell-based luciferase assays of nonsense codon suppression. Proc. Natl. Acad. Sci. U.S.A. 2009, 106:3585-3590.
-
(2009)
Proc. Natl. Acad. Sci. U.S.A.
, vol.106
, pp. 3585-3590
-
-
Auld, D.S.1
-
62
-
-
67649880582
-
Nonsense suppression activity of PTC124 (ataluren)
-
author reply E65
-
Peltz S.W., et al. Nonsense suppression activity of PTC124 (ataluren). Proc. Natl. Acad. Sci. U.S.A. 2009, 106:E64. author reply E65.
-
(2009)
Proc. Natl. Acad. Sci. U.S.A.
, vol.106
-
-
Peltz, S.W.1
-
63
-
-
77956311645
-
Read-Through strategies for suppression of nonsense mutations in Duchenne/Becker muscular dystrophy: aminoglycosides and ataluren (PTC124)
-
Finkel R.S. Read-Through strategies for suppression of nonsense mutations in Duchenne/Becker muscular dystrophy: aminoglycosides and ataluren (PTC124). J. Child Neurol. 2010, 25:1158-1164.
-
(2010)
J. Child Neurol.
, vol.25
, pp. 1158-1164
-
-
Finkel, R.S.1
-
64
-
-
84855342859
-
Suppression of nonsense mutations as a therapeutic approach to treat genetic diseases
-
Keeling K.M., Bedwell D.M. Suppression of nonsense mutations as a therapeutic approach to treat genetic diseases. Wiley Interdiscip. Rev. RNA 2011, 2:837-852.
-
(2011)
Wiley Interdiscip. Rev. RNA
, vol.2
, pp. 837-852
-
-
Keeling, K.M.1
Bedwell, D.M.2
-
65
-
-
0037069328
-
Resistance to the macrolide antibiotic tylosin is conferred by single methylations at 23S rRNA nucleotides G748 and A2058 acting in synergy
-
Liu M., Douthwaite S. Resistance to the macrolide antibiotic tylosin is conferred by single methylations at 23S rRNA nucleotides G748 and A2058 acting in synergy. Proc. Natl. Acad. Sci. U.S.A. 2002, 99:14658-14663.
-
(2002)
Proc. Natl. Acad. Sci. U.S.A.
, vol.99
, pp. 14658-14663
-
-
Liu, M.1
Douthwaite, S.2
-
66
-
-
77950837290
-
Restoration of APC gene function in colorectal cancer cells by aminoglycoside- and macrolide-induced read-through of premature termination codons
-
Zilberberg A., et al. Restoration of APC gene function in colorectal cancer cells by aminoglycoside- and macrolide-induced read-through of premature termination codons. Gut 2010, 59:496-507.
-
(2010)
Gut
, vol.59
, pp. 496-507
-
-
Zilberberg, A.1
-
67
-
-
77949904260
-
Nonsense-mediated mRNA decay in human cells: mechanistic insights, functions beyond quality control and the double-life of NMD factors
-
Nicholson P., et al. Nonsense-mediated mRNA decay in human cells: mechanistic insights, functions beyond quality control and the double-life of NMD factors. Cell. Mol. Life Sci. 2010, 67:677-700.
-
(2010)
Cell. Mol. Life Sci.
, vol.67
, pp. 677-700
-
-
Nicholson, P.1
-
68
-
-
66049162655
-
Execution of nonsense-mediated mRNA decay: what defines a substrate?
-
Rebbapragada I., Lykke-Andersen J. Execution of nonsense-mediated mRNA decay: what defines a substrate?. Curr. Opin. Cell Biol. 2009, 21:394-402.
-
(2009)
Curr. Opin. Cell Biol.
, vol.21
, pp. 394-402
-
-
Rebbapragada, I.1
Lykke-Andersen, J.2
-
69
-
-
33746889124
-
Specific inhibition of nonsense-mediated mRNA decay components, SMG-1 or Upf1, rescues the phenotype of Ullrich disease fibroblasts
-
Usuki F., et al. Specific inhibition of nonsense-mediated mRNA decay components, SMG-1 or Upf1, rescues the phenotype of Ullrich disease fibroblasts. Mol. Ther. 2006, 14:351-360.
-
(2006)
Mol. Ther.
, vol.14
, pp. 351-360
-
-
Usuki, F.1
-
70
-
-
32044454232
-
HUPF2 silencing identifies physiologic substrates of mammalian nonsense-mediated mRNA decay
-
Wittmann J., et al. hUPF2 silencing identifies physiologic substrates of mammalian nonsense-mediated mRNA decay. Mol. Cell. Biol. 2006, 26:1272-1287.
-
(2006)
Mol. Cell. Biol.
, vol.26
, pp. 1272-1287
-
-
Wittmann, J.1
-
71
-
-
50849094851
-
Systemic aminoglycoside treatment in rodent models of retinitis pigmentosa
-
Guerin K., et al. Systemic aminoglycoside treatment in rodent models of retinitis pigmentosa. Exp. Eye Res. 2008, 87:197-207.
-
(2008)
Exp. Eye Res.
, vol.87
, pp. 197-207
-
-
Guerin, K.1
-
72
-
-
77955392133
-
Aminoglycoside-mediated partial suppression of MECP2 nonsense mutations responsible for Rett syndrome in vitro
-
Popescu A.C., et al. Aminoglycoside-mediated partial suppression of MECP2 nonsense mutations responsible for Rett syndrome in vitro. J. Neurosci. Res. 2010, 88:2316-2324.
-
(2010)
J. Neurosci. Res.
, vol.88
, pp. 2316-2324
-
-
Popescu, A.C.1
-
73
-
-
77957153178
-
Membrane blebbing as an assessment of functional rescue of dysferlin-deficient human myotubes via nonsense suppression
-
Wang B., et al. Membrane blebbing as an assessment of functional rescue of dysferlin-deficient human myotubes via nonsense suppression. J. Appl. Physiol. 2010, 109:901-905.
-
(2010)
J. Appl. Physiol.
, vol.109
, pp. 901-905
-
-
Wang, B.1
-
74
-
-
0036379141
-
-/- mouse carrying a human CFTR-G542X transgene
-
-/- mouse carrying a human CFTR-G542X transgene. J. Mol. Med. 2002, 80:595-604.
-
(2002)
J. Mol. Med.
, vol.80
, pp. 595-604
-
-
Du, M.1
-
75
-
-
33745628041
-
Clinical doses of amikacin provide more effective suppression of the human CFTR-G542X stop mutation than gentamicin in a transgenic CF mouse model
-
Du M., et al. Clinical doses of amikacin provide more effective suppression of the human CFTR-G542X stop mutation than gentamicin in a transgenic CF mouse model. J. Mol. Med. 2006, 84:573-582.
-
(2006)
J. Mol. Med.
, vol.84
, pp. 573-582
-
-
Du, M.1
-
76
-
-
0141863491
-
Gentamicin-induced correction of CFTR function in patients with cystic fibrosis and CFTR stop mutations
-
Wilschanski M., et al. Gentamicin-induced correction of CFTR function in patients with cystic fibrosis and CFTR stop mutations. N. Engl. J. Med. 2003, 349:1433-1441.
-
(2003)
N. Engl. J. Med.
, vol.349
, pp. 1433-1441
-
-
Wilschanski, M.1
-
77
-
-
0035997219
-
Clinically relevant aminoglycosides can suppress disease-associated premature stop mutations in the IDUA and P53 cDNAs in a mammalian translation system
-
Keeling K.M., Bedwell D.M. Clinically relevant aminoglycosides can suppress disease-associated premature stop mutations in the IDUA and P53 cDNAs in a mammalian translation system. J. Mol. Med. 2002, 80:367-376.
-
(2002)
J. Mol. Med.
, vol.80
, pp. 367-376
-
-
Keeling, K.M.1
Bedwell, D.M.2
-
78
-
-
79955588050
-
Rescue of non-sense mutated p53 tumor suppressor gene by aminoglycosides
-
Floquet C., et al. Rescue of non-sense mutated p53 tumor suppressor gene by aminoglycosides. Nucleic Acids Res. 2011, 39:3350-3362.
-
(2011)
Nucleic Acids Res.
, vol.39
, pp. 3350-3362
-
-
Floquet, C.1
-
79
-
-
2642698862
-
APC gene: database of germline and somatic mutations in human tumors and cell lines
-
Laurent-Puig P., et al. APC gene: database of germline and somatic mutations in human tumors and cell lines. Nucleic Acids Res. 1998, 26:269-270.
-
(1998)
Nucleic Acids Res.
, vol.26
, pp. 269-270
-
-
Laurent-Puig, P.1
-
80
-
-
80052333494
-
Readthrough of premature termination codons in the adenomatous polyposis coli gene restores its biological activity in human cancer cells
-
Floquet C., et al. Readthrough of premature termination codons in the adenomatous polyposis coli gene restores its biological activity in human cancer cells. PLoS ONE 2011, 6:e24125.
-
(2011)
PLoS ONE
, vol.6
-
-
Floquet, C.1
-
81
-
-
33847360602
-
Nonsense-mediated mRNA decay affects nonsense transcript levels and governs response of cystic fibrosis patients to gentamicin
-
Linde L., et al. Nonsense-mediated mRNA decay affects nonsense transcript levels and governs response of cystic fibrosis patients to gentamicin. J. Clin. Invest. 2007, 117:683-692.
-
(2007)
J. Clin. Invest.
, vol.117
, pp. 683-692
-
-
Linde, L.1
-
82
-
-
34547625136
-
Inhibition of nonsense-mediated mRNA decay (NMD) by a new chemical molecule reveals the dynamic of NMD factors in P-bodies
-
Durand S., et al. Inhibition of nonsense-mediated mRNA decay (NMD) by a new chemical molecule reveals the dynamic of NMD factors in P-bodies. J. Cell Biol. 2007, 178:1145-1160.
-
(2007)
J. Cell Biol.
, vol.178
, pp. 1145-1160
-
-
Durand, S.1
-
83
-
-
77956279830
-
Aminoglycosides redesign strategies for improved antibiotics and compounds for treatment of human genetic diseases
-
Pokrovskaya V., et al. Aminoglycosides redesign strategies for improved antibiotics and compounds for treatment of human genetic diseases. Methods Enzymol. 2010, 478:437-462.
-
(2010)
Methods Enzymol.
, vol.478
, pp. 437-462
-
-
Pokrovskaya, V.1
-
84
-
-
70350448984
-
Nonaminoglycoside compounds induce readthrough of nonsense mutations
-
Du L., et al. Nonaminoglycoside compounds induce readthrough of nonsense mutations. J. Exp. Med. 2009, 206:2285-2297.
-
(2009)
J. Exp. Med.
, vol.206
, pp. 2285-2297
-
-
Du, L.1
-
85
-
-
84865794295
-
Read-through compound 13 restores dystrophin expression and improves muscle function in the mdx mouse model for Duchenne muscular dystrophy
-
Kayali R., et al. Read-through compound 13 restores dystrophin expression and improves muscle function in the mdx mouse model for Duchenne muscular dystrophy. Hum. Mol. Genet. 2012, 21:4007-4020.
-
(2012)
Hum. Mol. Genet.
, vol.21
, pp. 4007-4020
-
-
Kayali, R.1
-
86
-
-
77951754356
-
The future of aminoglycosides: the end or renaissance?
-
Houghton J.L., et al. The future of aminoglycosides: the end or renaissance?. Chembiochem 2010, 11:880-902.
-
(2010)
Chembiochem
, vol.11
, pp. 880-902
-
-
Houghton, J.L.1
-
87
-
-
65649136885
-
Development of novel aminoglycoside (NB54) with reduced toxicity and enhanced suppression of disease-causing premature stop mutations
-
Nudelman I., et al. Development of novel aminoglycoside (NB54) with reduced toxicity and enhanced suppression of disease-causing premature stop mutations. J. Med. Chem. 2009, 52:2836-2845.
-
(2009)
J. Med. Chem.
, vol.52
, pp. 2836-2845
-
-
Nudelman, I.1
-
88
-
-
43749105120
-
Efficient total synthesis of (+)-negamycin, a potential chemotherapeutic agent for genetic diseases
-
Hayashi Y., et al. Efficient total synthesis of (+)-negamycin, a potential chemotherapeutic agent for genetic diseases. Chem. Commun. (Camb.) 2008, 20:2379-2381.
-
(2008)
Chem. Commun. (Camb.)
, vol.20
, pp. 2379-2381
-
-
Hayashi, Y.1
-
89
-
-
0024638960
-
In memory of Constantine Spiro Anast
-
Crigler J.F., et al. In memory of Constantine Spiro Anast. Bone Miner. 1989, 5:iii-vii.
-
(1989)
Bone Miner.
, vol.5
-
-
Crigler, J.F.1
-
90
-
-
80755133472
-
Suppression of CFTR premature termination codons and rescue of CFTR protein and function by the synthetic aminoglycoside NB54
-
Rowe S.M., et al. Suppression of CFTR premature termination codons and rescue of CFTR protein and function by the synthetic aminoglycoside NB54. J. Mol. Med. 2011, 89:1149-1161.
-
(2011)
J. Mol. Med.
, vol.89
, pp. 1149-1161
-
-
Rowe, S.M.1
-
91
-
-
84855345879
-
The designer aminoglycoside NB84 significantly reduces glycosaminoglycan accumulation associated with MPS I-H in the Idua-W392X mouse
-
Wang D., et al. The designer aminoglycoside NB84 significantly reduces glycosaminoglycan accumulation associated with MPS I-H in the Idua-W392X mouse. Mol. Genet. Metab. 2012, 105:116-125.
-
(2012)
Mol. Genet. Metab.
, vol.105
, pp. 116-125
-
-
Wang, D.1
-
92
-
-
70349575755
-
Delivery of a read-through inducing compound, TC007, lessens the severity of a spinal muscular atrophy animal model
-
Mattis V.B., et al. Delivery of a read-through inducing compound, TC007, lessens the severity of a spinal muscular atrophy animal model. Hum. Mol. Genet. 2009, 18:3906-3913.
-
(2009)
Hum. Mol. Genet.
, vol.18
, pp. 3906-3913
-
-
Mattis, V.B.1
|