Usher Syndrome Protein Network Functions in the Retina and their Relation to Other Retinal Ciliopathies

Publication type:
Chapter
Metadata:
Autoren
  • Nasrin Sorusch
  • Kirsten Wunderlich
  • Katharina Bauss
  • Kerstin Nagel-Wolfrum
  • Uwe Wolfrum
Autoren-URL
https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=fis-test-1&SrcAuth=WosAPI&KeyUT=WOS:000350418200068&DestLinkType=FullRecord&DestApp=WOS_CPL
DOI
10.1007/978-1-4614-3209-8_67
ISBN-13
978-1-4614-3208-1
Schlüsselwörter
  • Usher syndrome
  • Deaf-blindness
  • Retinitis pigmentosa
  • LCA
  • BBS
  • Ciliopathy
  • Protein networks
  • Interactome
  • Ciliary transport
Paginierung
527 - 533
Datum der Veröffentlichung
2014
Status
Published
Titel
Usher Syndrome Protein Network Functions in the Retina and their Relation to Other Retinal Ciliopathies
Ausgabe der Zeitschrift
801

Data source: Web of Science (Lite)

Other metadata sources:
Autoren
  • Nasrin Sorusch
  • Kirsten Wunderlich
  • Katharina Bauss
  • Kerstin Nagel-Wolfrum
  • Uwe Wolfrum
DOI
10.1007/978-1-4614-3209-8_67
ISBN-13
9781461432081
Online publication date
2014
Paginierung
527 - 533
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_67
Datum der Datenerfassung
2023
Titel
Usher Syndrome Protein Network Functions in the Retina and their Relation to Other Retinal Ciliopathies

Data source: Crossref

Abstract
The human Usher syndrome (USH) is the most frequent cause of combined hereditary deaf-blindness. USH is genetically and clinically heterogeneous: 15 chromosomal loci assigned to 3 clinical types, USH1-3. All USH1 and 2 proteins are organized into protein networks by the scaffold proteins harmonin (USH1C), whirlin (USH2D) and SANS (USH1G). This has contributed essentially to our current understanding of the USH protein function in the eye and the ear and explains why defects in proteins of different families cause very similar phenotypes. Ongoing in depth analyses of USH protein networks in the eye indicated cytoskeletal functions as well as roles in molecular transport processes and ciliary cargo delivery in photoreceptor cells. The analysis of USH protein networks revealed molecular links of USH to other ciliopathies, including non-syndromic inner ear defects and isolated retinal dystrophies but also to kidney diseases and syndromes like the Bardet-Biedl syndrome. These findings provide emerging evidence that USH is a ciliopathy molecularly related to other ciliopathies, which opens an avenue for common therapy strategies to treat these diseases.
Addresses
  • Institute of Zoology, Dept. Cell & Matrix Biology, Johannes Gutenberg University Mainz, Mainz, Germany, sorusch@uni-mainz.de.
Autoren
  • Nasrin Sorusch
  • Kirsten Wunderlich
  • Katharina Bauss
  • Kerstin Nagel-Wolfrum
  • Uwe Wolfrum
DOI
10.1007/978-1-4614-3209-8_67
Open access
false
Schlüsselwörter
  • Retina
  • Cilia
  • Humans
  • Polycystic Kidney Diseases
  • Ciliary Motility Disorders
  • Encephalocele
  • Retinitis Pigmentosa
  • Usher Syndromes
  • Leber Congenital Amaurosis
Medium
Print
Paginierung
527 - 533
Datum der Veröffentlichung
2014
Status
Published
Datum der Datenerfassung
2014
Titel
Usher syndrome protein network functions in the retina and their relation to other retinal ciliopathies.
Ausgabe der Zeitschrift
801

Data source: Europe PubMed Central

Abstract
The human Usher syndrome (USH) is the most frequent cause of combined hereditary deaf-blindness. USH is genetically and clinically heterogeneous: 15 chromosomal loci assigned to 3 clinical types, USH1-3. All USH1 and 2 proteins are organized into protein networks by the scaffold proteins harmonin (USH1C), whirlin (USH2D) and SANS (USH1G). This has contributed essentially to our current understanding of the USH protein function in the eye and the ear and explains why defects in proteins of different families cause very similar phenotypes. Ongoing in depth analyses of USH protein networks in the eye indicated cytoskeletal functions as well as roles in molecular transport processes and ciliary cargo delivery in photoreceptor cells. The analysis of USH protein networks revealed molecular links of USH to other ciliopathies, including non-syndromic inner ear defects and isolated retinal dystrophies but also to kidney diseases and syndromes like the Bardet-Biedl syndrome. These findings provide emerging evidence that USH is a ciliopathy molecularly related to other ciliopathies, which opens an avenue for common therapy strategies to treat these diseases.
Autoren
  • Nasrin Sorusch
  • Kirsten Wunderlich
  • Katharina Bauss
  • Kerstin Nagel-Wolfrum
  • Uwe Wolfrum
Autoren-URL
https://www.ncbi.nlm.nih.gov/pubmed/24664740
DOI
10.1007/978-1-4614-3209-8_67
Schlüsselwörter
  • Cilia
  • Ciliary Motility Disorders
  • Encephalocele
  • Humans
  • Leber Congenital Amaurosis
  • Polycystic Kidney Diseases
  • Retina
  • Retinitis Pigmentosa
  • Usher Syndromes
Paginierung
527 - 533
Datum der Veröffentlichung
2014
Status
Published
Datum, an dem der Datensatz öffentlich gemacht wurde
2014
Titel
Usher syndrome protein network functions in the retina and their relation to other retinal ciliopathies.
Ausgabe der Zeitschrift
801

Data source: PubMed

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