Usher Syndrome Protein Network Functions in the Retina and their Relation to Other Retinal Ciliopathies
- Publikationstyp:
- Kapitel
- Metadaten:
-
- 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
Datenquelle: Web of Science (Lite)
- Andere Metadatenquellen:
-
- 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
Datenquelle: 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
- 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
Datenquelle: 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
Datenquelle: PubMed
- Beziehungen:
- Eigentum von