Literature DB >> 21235327

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

T Goldmann1, N Overlack, U Wolfrum, K Nagel-Wolfrum.   

Abstract

We investigated the therapeutic potential of the premature termination codon (PTC) readthrough-inducing drug PTC124 in treating the retinal phenotype of Usher syndrome, caused by a nonsense mutation in the USH1C gene. Applications in cell culture, organotypic retina cultures, and mice in vivo revealed significant readthrough and the recovery of protein function. In comparison with other readthrough drugs, namely the clinically approved readthrough-inducing aminoglycoside gentamicin, PTC124 exhibits significant better retinal biocompatibility. Its high readthrough efficiency in combination with excellent biocompatibility makes PTC124 a promising therapeutic agent for PTCs in USH1C, as well as other ocular and nonocular genetic diseases.

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Year:  2011        PMID： 21235327     DOI： 10.1089/hum.2010.067

Source DB:  PubMed          Journal:  Hum Gene Ther        ISSN： 1043-0342            Impact factor:   5.695


  43 in total

1.  A novel Werner Syndrome mutation: pharmacological treatment by read-through of nonsense mutations and epigenetic therapies.

Authors:  Ruben Agrelo; Miguel Arocena Sutz; Fernando Setien; Fabian Aldunate; Manel Esteller; Valeria Da Costa; Ricardo Achenbach
Journal:  Epigenetics       Date:  2015       Impact factor: 4.528

2.  Ataluren stimulates ribosomal selection of near-cognate tRNAs to promote nonsense suppression.

Authors:  Bijoyita Roy; Westley J Friesen; Yuki Tomizawa; John D Leszyk; Jin Zhuo; Briana Johnson; Jumana Dakka; Christopher R Trotta; Xiaojiao Xue; Venkateshwar Mutyam; Kim M Keeling; James A Mobley; Steven M Rowe; David M Bedwell; Ellen M Welch; Allan Jacobson
Journal:  Proc Natl Acad Sci U S A       Date:  2016-10-04       Impact factor: 11.205

3.  New trends in aminoglycosides use.

Authors:  Marina Y Fosso; Yijia Li; Sylvie Garneau-Tsodikova
Journal:  Medchemcomm       Date:  2014-08-01       Impact factor: 3.597

4.  Toward postnatal reversal of ocular congenital malformations.

Authors:  José-Alain Sahel; Katia Marazova
Journal:  J Clin Invest       Date:  2013-12-20       Impact factor: 14.808

Review 5.  Nonsense-Mediated mRNA Decay: Degradation of Defective Transcripts Is Only Part of the Story.

Authors:  Feng He; Allan Jacobson
Journal:  Annu Rev Genet       Date:  2015-10-02       Impact factor: 16.830

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

Authors:  Chinmoy Sarkar; Zhongjian Zhang; Anil B Mukherjee
Journal:  Mol Genet Metab       Date:  2011-06-13       Impact factor: 4.797

Review 7.  Therapeutics based on stop codon readthrough.

Authors:  Kim M Keeling; Xiaojiao Xue; Gwen Gunn; David M Bedwell
Journal:  Annu Rev Genomics Hum Genet       Date:  2014-04-18       Impact factor: 8.929

Review 8.  Nonsense-mediated decay in genetic disease: friend or foe?

Authors:  Jake N Miller; David A Pearce
Journal:  Mutat Res Rev Mutat Res       Date:  2014-05-28       Impact factor: 5.657

9.  The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis.

Authors:  Jake N Miller; Chun-Hung Chan; David A Pearce
Journal:  Hum Mol Genet       Date:  2013-03-28       Impact factor: 6.150

Review 10.  Ataluren as an agent for therapeutic nonsense suppression.

Authors:  Stuart W Peltz; Manal Morsy; Ellen M Welch; Allan Jacobson
Journal:  Annu Rev Med       Date:  2012-11-28       Impact factor: 13.739
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