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Results: 1 to 20 of 123

Similar articles for PubMed (Select 23532445)

1.

In vitro read-through of phenylalanine hydroxylase (PAH) nonsense mutations using aminoglycosides: a potential therapy for phenylketonuria.

Ho G, Reichardt J, Christodoulou J.

J Inherit Metab Dis. 2013 Nov;36(6):955-9. doi: 10.1007/s10545-013-9602-6. Epub 2013 Mar 27.

PMID:
23532445
2.

Splice, insertion-deletion and nonsense mutations that perturb the phenylalanine hydroxylase transcript cause phenylketonuria in India.

Bashyam MD, Chaudhary AK, Kiran M, Nagarajaram HA, Devi RR, Ranganath P, Dalal A, Bashyam L, Gupta N, Kabra M, Muranjan M, Puri RD, Verma IC, Nampoothiri S, Kadandale JS.

J Cell Biochem. 2014 Mar;115(3):566-74. doi: 10.1002/jcb.24692.

PMID:
24130151
3.

Read-through strategies for suppression of nonsense mutations in Duchenne/ Becker muscular dystrophy: aminoglycosides and ataluren (PTC124).

Finkel RS.

J Child Neurol. 2010 Sep;25(9):1158-64. doi: 10.1177/0883073810371129. Epub 2010 Jun 2. Review.

4.

Comparison of read-through effects of aminoglycosides and PTC124 on rescuing nonsense mutations of HERG gene associated with long QT syndrome.

Yu H, Liu X, Huang J, Zhang Y, Hu R, Pu J.

Int J Mol Med. 2014 Mar;33(3):729-35. doi: 10.3892/ijmm.2013.1601. Epub 2013 Dec 23.

PMID:
24366185
5.

In vitro expression analysis of R68G and R68S mutations in phenylalanine hydroxylase gene.

Zekanowsk C, Perez B, Desviat LR, Wiszniewski W, Ugarte M.

Acta Biochim Pol. 2000;47(2):365-9.

6.
7.

Phenylalanine hydroxylase deficiency in the Slovak population: genotype-phenotype correlations and genotype-based predictions of BH4-responsiveness.

Polak E, Ficek A, Radvanszky J, Soltysova A, Urge O, Cmelova E, Kantarska D, Kadasi L.

Gene. 2013 Sep 10;526(2):347-55. doi: 10.1016/j.gene.2013.05.057. Epub 2013 Jun 10.

PMID:
23764561
8.

Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations.

Kayaalp E, Treacy E, Waters PJ, Byck S, Nowacki P, Scriver CR.

Am J Hum Genet. 1997 Dec;61(6):1309-17.

9.

Translational read-through as an alternative approach for ocular gene therapy of retinal dystrophies caused by in-frame nonsense mutations.

Nagel-Wolfrum K, Möller F, Penner I, Wolfrum U.

Vis Neurosci. 2014 Sep;31(4-5):309-16. doi: 10.1017/S0952523814000194. Epub 2014 Jun 10. Review.

PMID:
24912600
10.

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.

11.

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
12.

Quantification of phenylalanine hydroxylase activity by isotope-dilution liquid chromatography-electrospray ionization tandem mass spectrometry.

Heintz C, Troxler H, Martinez A, Thöny B, Blau N.

Mol Genet Metab. 2012 Apr;105(4):559-65. doi: 10.1016/j.ymgme.2011.12.025. Epub 2012 Jan 12.

PMID:
22300847
13.

A lack of premature termination codon read-through efficacy of PTC124 (Ataluren) in a diverse array of reporter assays.

McElroy SP, Nomura T, Torrie LS, Warbrick E, Gartner U, Wood G, McLean WH.

PLoS Biol. 2013;11(6):e1001593. doi: 10.1371/journal.pbio.1001593. Epub 2013 Jun 25.

14.

Systemic aminoglycoside treatment in rodent models of retinitis pigmentosa.

Guerin K, Gregory-Evans CY, Hodges MD, Moosajee M, Mackay DS, Gregory-Evans K, Flannery JG.

Exp Eye Res. 2008 Sep;87(3):197-207. doi: 10.1016/j.exer.2008.05.016. Epub 2008 Jun 3.

PMID:
18644591
15.

Repairing faulty genes by aminoglycosides: development of new derivatives of geneticin (G418) with enhanced suppression of diseases-causing nonsense mutations.

Nudelman I, Glikin D, Smolkin B, Hainrichson M, Belakhov V, Baasov T.

Bioorg Med Chem. 2010 Jun 1;18(11):3735-46. doi: 10.1016/j.bmc.2010.03.060. Epub 2010 Mar 27.

PMID:
20409719
16.

Hepatocytes from wild-type or heterozygous donors are equally effective in achieving successful therapeutic liver repopulation in murine phenylketonuria (PKU).

Hamman KJ, Winn SR, Harding CO.

Mol Genet Metab. 2011 Nov;104(3):235-40. doi: 10.1016/j.ymgme.2011.07.027. Epub 2011 Aug 4.

17.

New insights into tetrahydrobiopterin pharmacodynamics from Pah enu1/2, a mouse model for compound heterozygous tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.

Lagler FB, Gersting SW, Zsifkovits C, Steinbacher A, Eichinger A, Danecka MK, Staudigl M, Fingerhut R, Glossmann H, Muntau AC.

Biochem Pharmacol. 2010 Nov 15;80(10):1563-71. doi: 10.1016/j.bcp.2010.07.042. Epub 2010 Aug 10.

PMID:
20705059
18.

A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin.

Dobrowolski SF, Borski K, Ellingson CC, Koch R, Levy HL, Naylor EW.

J Hum Genet. 2009 Jun;54(6):335-9. doi: 10.1038/jhg.2009.37. Epub 2009 May 15.

PMID:
19444284
19.

Pharmacological read-through of nonsense ARSB mutations as a potential therapeutic approach for mucopolysaccharidosis VI.

Bartolomeo R, Polishchuk EV, Volpi N, Polishchuk RS, Auricchio A.

J Inherit Metab Dis. 2013 Mar;36(2):363-71. doi: 10.1007/s10545-012-9521-y. Epub 2012 Sep 13.

20.

[Therapeutic readthrough strategy for suppression of nonsense mutations in duchenne muscular dystrophy].

Shiozuka M, Matsuda R.

Brain Nerve. 2011 Nov;63(11):1253-60. Review. Japanese.

PMID:
22068478
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