A comparative evaluation of NB30, NB54 and PTC124 in translational read‐through efficacy for treatment of an USH1C nonsense mutation-Reference-Cited by-同舟云学术

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

Published:2012-10-02 Issue:11 Volume:4 Page:1186-1199
ISSN:1757-4676
Container-title:EMBO Molecular Medicine
language:en
Short-container-title:EMBO Mol Med

Author:

Goldmann Tobias¹²,Overlack Nora¹,Möller Fabian¹,Belakhov Valery³,van Wyk Michiel¹⁴,Baasov Timor³,Wolfrum Uwe¹,Nagel‐Wolfrum Kerstin¹

Affiliation:

1. Cell and Matrix Biology, Institute of Zoology, Johannes Gutenberg University of Mainz, Mainz, Germany

2. Present address: Department for Neuropathology, University Clinic Freiburg, Institute of Pathology, Freiburg, Germany

3. Edith and Joseph Fischer Enzyme Inhibitors Laboratory, Schulich Faculty of Chemistry, Technion‐Israel Institute of Technology, Haifa, Israel

4. Present address: Vetsuisse Faculty, Institute of Animal Pathology, Bern, Switzerland

Publisher

EMBO

Subject

Molecular Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/emmm.201201438

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2. Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC

3. A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene

4. Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle

5. Readthrough of nonsense mutations in Rett syndrome: evaluation of novel aminoglycosides and generation of a new mouse model

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