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Results: 1 to 20 of 50

1.

Pulmonology: CFTR modulators for cystic fibrosis.

Bertoncini E, Colomb-Lippa D.

JAAPA. 2013 Feb;26(2):59-60. No abstract available.

PMID:
23409389
[PubMed - indexed for MEDLINE]
2.

Treatment of a methylmalonyl-CoA mutase stopcodon mutation.

Buck NE, Wood LR, Hamilton NJ, Bennett MJ, Peters HL.

Biochem Biophys Res Commun. 2012 Nov 2;427(4):753-7. doi: 10.1016/j.bbrc.2012.09.133. Epub 2012 Oct 4.

PMID:
23041189
[PubMed - indexed for MEDLINE]
3.

A comparative evaluation of NB30, NB54 and PTC124 in translational read-through efficacy for treatment of an USH1C nonsense mutation.

Goldmann T, Overlack N, Möller F, Belakhov V, van Wyk M, Baasov T, Wolfrum U, Nagel-Wolfrum K.

EMBO Mol Med. 2012 Nov;4(11):1186-99. doi: 10.1002/emmm.201201438. Epub 2012 Oct 2.

PMID:
23027640
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Cystic fibrosis transmembrane conductance regulator-modifying medications: the future of cystic fibrosis treatment.

Pettit RS.

Ann Pharmacother. 2012 Jul-Aug;46(7-8):1065-75. doi: 10.1345/aph.1R076. Epub 2012 Jun 26. Review.

PMID:
22739718
[PubMed - indexed for MEDLINE]
5.

Read-through compound 13 restores dystrophin expression and improves muscle function in the mdx mouse model for Duchenne muscular dystrophy.

Kayali R, Ku JM, Khitrov G, Jung ME, Prikhodko O, Bertoni C.

Hum Mol Genet. 2012 Sep 15;21(18):4007-20. doi: 10.1093/hmg/dds223. Epub 2012 Jun 12.

PMID:
22692682
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Highlights of the North American Cystic Fibrosis Conference 2011.

Pabary R, Thursfield R, Davies JC.

J R Soc Med. 2012 Jun;105 Suppl 2:S9-13. doi: 10.1258/jrsm.2012.12s002. No abstract available.

PMID:
22688370
[PubMed - indexed for MEDLINE]
7.

Drug treatment of Duchenne muscular dystrophy: available evidence and perspectives.

Beytía Mde L, Vry J, Kirschner J.

Acta Myol. 2012 May;31(1):4-8. Review.

PMID:
22655510
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Gene therapy for muscular dystrophy: lessons learned and path forward.

Mendell JR, Rodino-Klapac L, Sahenk Z, Malik V, Kaspar BK, Walker CM, Clark KR.

Neurosci Lett. 2012 Oct 11;527(2):90-9. doi: 10.1016/j.neulet.2012.04.078. Epub 2012 May 17. Review.

PMID:
22609847
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

[Treatment with antisense oligonucleotides in Duchenne's disease].

Pascual-Pascual SI.

Rev Neurol. 2012 May 21;54 Suppl 3:S31-9. Review. Spanish.

PMID:
22605630
[PubMed - indexed for MEDLINE]
Free Article
10.

Personalized medicine comes to cystic fibrosis.

[No authors listed]

Am J Med Genet A. 2012 Feb;158A(2):viii-ix. doi: 10.1002/ajmg.a.35226. No abstract available.

PMID:
22266959
[PubMed - indexed for MEDLINE]
11.

The chemical compound PTC124 does not affect cellular electrophysiology of cardiac ventricular myocytes.

Koopmann TT, Verkerk AO, Bezzina CR, de Bakker JM, Wilde AA.

Cardiovasc Drugs Ther. 2012 Feb;26(1):41-5. doi: 10.1007/s10557-011-6352-2.

PMID:
22065308
[PubMed - indexed for MEDLINE]
12.

Rescue of melanocortin 4 receptor (MC4R) nonsense mutations by aminoglycoside-mediated read-through.

Brumm H, Mühlhaus J, Bolze F, Scherag S, Hinney A, Hebebrand J, Wiegand S, Klingenspor M, Grüters A, Krude H, Biebermann H.

Obesity (Silver Spring). 2012 May;20(5):1074-81. doi: 10.1038/oby.2011.202. Epub 2011 Jul 7.

PMID:
21738238
[PubMed - indexed for MEDLINE]
13.

Stop codon read-through with PTC124 induces palmitoyl-protein thioesterase-1 activity, reduces thioester load and suppresses apoptosis in cultured cells from INCL patients.

Sarkar C, Zhang Z, Mukherjee AB.

Mol Genet Metab. 2011 Nov;104(3):338-45. doi: 10.1016/j.ymgme.2011.05.021. Epub 2011 Jun 13.

PMID:
21704547
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Nonsense-mediated mRNA decay and cystic fibrosis.

Linde L, Kerem B.

Methods Mol Biol. 2011;741:137-54. doi: 10.1007/978-1-61779-117-8_10.

PMID:
21594783
[PubMed - indexed for MEDLINE]
15.

Current status of pharmaceutical and genetic therapeutic approaches to treat DMD.

Pichavant C, Aartsma-Rus A, Clemens PR, Davies KE, Dickson G, Takeda S, Wilton SD, Wolff JA, Wooddell CI, Xiao X, Tremblay JP.

Mol Ther. 2011 May;19(5):830-40. doi: 10.1038/mt.2011.59. Epub 2011 Apr 5. Review.

PMID:
21468001
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations.

Dranchak PK, Di Pietro E, Snowden A, Oesch N, Braverman NE, Steinberg SJ, Hacia JG.

J Cell Biochem. 2011 May;112(5):1250-8. doi: 10.1002/jcb.22979.

PMID:
21465523
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

PTC124 improves readthrough and increases enzymatic activity of the CPT1A R160X nonsense mutation.

Tan L, Narayan SB, Chen J, Meyers GD, Bennett MJ.

J Inherit Metab Dis. 2011 Apr;34(2):443-7. doi: 10.1007/s10545-010-9265-5. Epub 2011 Jan 21.

PMID:
21253826
[PubMed - indexed for MEDLINE]
18.

PTC124-mediated translational readthrough of a nonsense mutation causing Usher syndrome type 1C.

Goldmann T, Overlack N, Wolfrum U, Nagel-Wolfrum K.

Hum Gene Ther. 2011 May;22(5):537-47. doi: 10.1089/hum.2010.067. Epub 2011 Mar 25.

PMID:
21235327
[PubMed - indexed for MEDLINE]
19.

Chronic ataluren (PTC124) treatment of nonsense mutation cystic fibrosis.

Wilschanski M, Miller LL, Shoseyov D, Blau H, Rivlin J, Aviram M, Cohen M, Armoni S, Yaakov Y, Pugatsch T, Cohen-Cymberknoh M, Miller NL, Reha A, Northcutt VJ, Hirawat S, Donnelly K, Elfring GL, Ajayi T, Kerem E.

Eur Respir J. 2011 Jul;38(1):59-69. doi: 10.1183/09031936.00120910. Epub 2011 Jan 13. Erratum in: Eur Respir J. 2011 Oct;38(4):996. Pugatch, T [corrected to Pugatsch, T].

PMID:
21233271
[PubMed - indexed for MEDLINE]
Free Article
20.

[Research on mRNA degradation and drug discovery].

Ogami K, Hoshino S.

Nihon Yakurigaku Zasshi. 2010 Sep;136(3):150-4. Review. Japanese. No abstract available.

PMID:
20838017
[PubMed - indexed for MEDLINE]

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