Therapy Strategies for Usher Syndrome Type 1C in the Retina

Publication type:
Chapter
Metadata:
Autoren
  • Kerstin Nagel-Wolfrum
  • Timor Baasov
  • Uwe Wolfrum
Autoren-URL
https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=fis-test-1&SrcAuth=WosAPI&KeyUT=WOS:000350418200094&DestLinkType=FullRecord&DestApp=WOS_CPL
DOI
10.1007/978-1-4614-3209-8_93
ISBN-13
978-1-4614-3208-1
Schlüsselwörter
  • Retinal gene therapy gene addition
  • Gene editing
  • Translational readthrough
  • Aminoglycosides
  • Deaf blindness
Paginierung
741 - 747
Datum der Veröffentlichung
2014
Status
Published
Titel
Therapy Strategies for Usher Syndrome Type 1C in the Retina
Ausgabe der Zeitschrift
801

Data source: Web of Science (Lite)

Other metadata sources:
Autoren
  • Kerstin Nagel-Wolfrum
  • Timor Baasov
  • Uwe Wolfrum
DOI
10.1007/978-1-4614-3209-8_93
ISBN-13
9781461432081
Online publication date
2014
Paginierung
741 - 747
Buchtitel
Retinal Degenerative Diseases
Datum der Veröffentlichung
2014
Status
Published
Herausgeber
Springer New York
Herausgeber URL
http://dx.doi.org/10.1007/978-1-4614-3209-8_93
Datum der Datenerfassung
2023
Titel
Therapy Strategies for Usher Syndrome Type 1C in the Retina

Data source: Crossref

Abstract
The Usher syndrome (USH) is the most common form of inherited deaf-blindness with a prevalence of ~ 1/6,000. Three clinical subtypes (USH1-USH3) are defined according to the severity of the hearing impairment, the presence or absence of vestibular dysfunction and the age of onset of retinitis pigmentosa (RP). USH1 is the most severe subtype with congenital severe to profound hearing loss and onset of RP before puberty. Currently only the amelioration of the hearing deficiency is implemented, but no treatment of the senso-neuronal degeneration in the eye exists.In our studies we are focusing on the evaluation of gene-based therapies to cure the retinal degeneration of USH1C patients: (i) gene augmentation using recombinant adeno-associated virus, (ii) genome editing by homologous recombination mediated by zinc-finger nucleases and, (iii) read-through therapy using novel designer aminoglycosides and PTC124. Latter compounds target in-frame nonsense mutations which account for ~ 20 % of all USH cases.All analyzed gene-based therapy strategies lead to the restoration of USH protein expression. These adjustments may be sufficient to reduce the progression of retinal degeneration, which would greatly improve the life quality of USH patients.
Addresses
  • Department of Cell and Matrix Biology, Institute of Zoology, Johannes Gutenberg University of Mainz, 55099, Mainz, Germany, nagelwol@uni-mainz.de.
Autoren
  • Kerstin Nagel-Wolfrum
  • Timor Baasov
  • Uwe Wolfrum
DOI
10.1007/978-1-4614-3209-8_93
Open access
false
Schlüsselwörter
  • Humans
  • Retinal Degeneration
  • Aminoglycosides
  • Prevalence
  • Protein Biosynthesis
  • Usher Syndromes
  • Genetic Therapy
Medium
Print
Paginierung
741 - 747
Datum der Veröffentlichung
2014
Status
Published
Datum der Datenerfassung
2014
Titel
Therapy strategies for Usher syndrome Type 1C in the retina.
Ausgabe der Zeitschrift
801

Data source: Europe PubMed Central

Abstract
The Usher syndrome (USH) is the most common form of inherited deaf-blindness with a prevalence of ~ 1/6,000. Three clinical subtypes (USH1-USH3) are defined according to the severity of the hearing impairment, the presence or absence of vestibular dysfunction and the age of onset of retinitis pigmentosa (RP). USH1 is the most severe subtype with congenital severe to profound hearing loss and onset of RP before puberty. Currently only the amelioration of the hearing deficiency is implemented, but no treatment of the senso-neuronal degeneration in the eye exists.In our studies we are focusing on the evaluation of gene-based therapies to cure the retinal degeneration of USH1C patients: (i) gene augmentation using recombinant adeno-associated virus, (ii) genome editing by homologous recombination mediated by zinc-finger nucleases and, (iii) read-through therapy using novel designer aminoglycosides and PTC124. Latter compounds target in-frame nonsense mutations which account for ~ 20 % of all USH cases.All analyzed gene-based therapy strategies lead to the restoration of USH protein expression. These adjustments may be sufficient to reduce the progression of retinal degeneration, which would greatly improve the life quality of USH patients.
Autoren
  • Kerstin Nagel-Wolfrum
  • Timor Baasov
  • Uwe Wolfrum
Autoren-URL
https://www.ncbi.nlm.nih.gov/pubmed/24664766
DOI
10.1007/978-1-4614-3209-8_93
Schlüsselwörter
  • Aminoglycosides
  • Genetic Therapy
  • Humans
  • Prevalence
  • Protein Biosynthesis
  • Retinal Degeneration
  • Usher Syndromes
Paginierung
741 - 747
Datum der Veröffentlichung
2014
Status
Published
Datum, an dem der Datensatz öffentlich gemacht wurde
2014
Titel
Therapy strategies for Usher syndrome Type 1C in the retina.
Ausgabe der Zeitschrift
801

Data source: PubMed

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