PTC124-Mediated Translational Readthrough of a Nonsense Mutation Causing Usher Syndrome Type 1C
- Publikationstyp:
- Zeitschriftenaufsatz
- Metadaten:
-
- Autoren
- T Goldmann
- N Overlack
- U Wolfrum
- K Nagel-Wolfrum
- Autoren-URL
- https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=fis-test-1&SrcAuth=WosAPI&KeyUT=WOS:000289887000004&DestLinkType=FullRecord&DestApp=WOS_CPL
- DOI
- 10.1089/hum.2010.067
- Externe Identifier
- Clarivate Analytics Document Solution ID: 754VY
- PubMed Identifier: 21235327
- ISSN
- 1043-0342
- Ausgabe der Veröffentlichung
- 5
- Zeitschrift
- HUMAN GENE THERAPY
- Paginierung
- 537 - 547
- Datum der Veröffentlichung
- 2011
- Status
- Published
- Titel
- PTC124-Mediated Translational Readthrough of a Nonsense Mutation Causing Usher Syndrome Type 1C
- Sub types
- Article
- Ausgabe der Zeitschrift
- 22
Datenquelle: Web of Science (Lite)
- Andere Metadatenquellen:
-
- Autoren
- T Goldmann
- N Overlack
- U Wolfrum
- K Nagel-Wolfrum
- DOI
- 10.1089/hum.2010.067
- eISSN
- 1557-7422
- ISSN
- 1043-0342
- Ausgabe der Veröffentlichung
- 5
- Zeitschrift
- Human Gene Therapy
- Sprache
- en
- Paginierung
- 537 - 547
- Datum der Veröffentlichung
- 2011
- Status
- Published
- Herausgeber
- Mary Ann Liebert Inc
- Herausgeber URL
- http://dx.doi.org/10.1089/hum.2010.067
- Datum der Datenerfassung
- 2018
- Titel
- PTC124-Mediated Translational Readthrough of a Nonsense Mutation Causing Usher Syndrome Type 1C
- Ausgabe der Zeitschrift
- 22
Datenquelle: Crossref
- 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.
- Addresses
- Department of Cell and Matrix Biology, Institute of Zoology, Johannes Gutenberg University Mainz, D-55099 Mainz, Germany.
- Autoren
- T Goldmann
- N Overlack
- U Wolfrum
- K Nagel-Wolfrum
- DOI
- 10.1089/hum.2010.067
- eISSN
- 1557-7422
- Externe Identifier
- PubMed Identifier: 21235327
- Funding acknowledgements
- European Commission FP7: FP7_241955
- Open access
- false
- ISSN
- 1043-0342
- Ausgabe der Veröffentlichung
- 5
- Zeitschrift
- Human gene therapy
- Schlüsselwörter
- Retina
- Cells, Cultured
- Animals
- Mice, Inbred C57BL
- Humans
- Mice
- Oxadiazoles
- Gentamicins
- Adaptor Proteins, Signal Transducing
- Cell Cycle Proteins
- Cytoskeletal Proteins
- Luminescent Proteins
- Codon, Nonsense
- Microscopy, Fluorescence
- Electroporation
- Genetic Vectors
- Usher Syndromes
- Red Fluorescent Protein
- Sprache
- eng
- Medium
- Print-Electronic
- Online publication date
- 2011
- Paginierung
- 537 - 547
- Datum der Veröffentlichung
- 2011
- Status
- Published
- Datum der Datenerfassung
- 2011
- Titel
- PTC124-mediated translational readthrough of a nonsense mutation causing Usher syndrome type 1C.
- Sub types
- Comparative Study
- Journal Article
- Ausgabe der Zeitschrift
- 22
Datenquelle: Europe PubMed Central
- 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.
- Autoren
- T Goldmann
- N Overlack
- U Wolfrum
- K Nagel-Wolfrum
- Autoren-URL
- https://www.ncbi.nlm.nih.gov/pubmed/21235327
- DOI
- 10.1089/hum.2010.067
- eISSN
- 1557-7422
- Ausgabe der Veröffentlichung
- 5
- Zeitschrift
- Hum Gene Ther
- Schlüsselwörter
- Adaptor Proteins, Signal Transducing
- Animals
- Cell Cycle Proteins
- Cells, Cultured
- Codon, Nonsense
- Cytoskeletal Proteins
- Electroporation
- Genetic Vectors
- Gentamicins
- Humans
- Luminescent Proteins
- Mice
- Mice, Inbred C57BL
- Microscopy, Fluorescence
- Oxadiazoles
- Retina
- Usher Syndromes
- Red Fluorescent Protein
- Sprache
- eng
- Country
- United States
- Paginierung
- 537 - 547
- Datum der Veröffentlichung
- 2011
- Status
- Published
- Datum, an dem der Datensatz öffentlich gemacht wurde
- 2011
- Titel
- PTC124-mediated translational readthrough of a nonsense mutation causing Usher syndrome type 1C.
- Sub types
- Comparative Study
- Journal Article
- Ausgabe der Zeitschrift
- 22
Datenquelle: PubMed
- Beziehungen:
- Eigentum von