| Retinal Dystrophy In Bardet-Biedl Syndrome And Related Syndromic Ciliopathies. | |
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MedLine Citation:
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PMID: 21477661 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Primary cilia are almost ubiquitously expressed in eukaryotic cells where they function as sensors relaying information either from the extracellular environment or between two compartments of the same cell, such as in the photoreceptor cell. In ciliopathies, a continuously growing class of genetic disorders related to ciliary defects, the modified primary cilium of the photoreceptor, also known as the connecting cilium, is frequently defective. Ciliary dysfunction involves disturbances in the trafficking and docking of specific proteins involved in its biogenesis or maintenance. The main well conserved ciliary process, Intra-Flagellar Transport (IFT), is a complex process carried out by multimeric ciliary particles and molecular motors of major importance in the photoreceptor cell. It is defective in a growing number of ciliopathies leading to retinal degeneration. Retinitis pigmentosa related to ciliary dysfunction can be an isolated feature or a part of a syndrome such as Bardet-Biedl syndrome (BBS). Research on ciliopathies and BBS has led to the discovery of several major cellular processes carried out by the primary cilium structure and has highlighted their genetic heterogeneity. |
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Authors:
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A Mockel; Y Perdomo; F Stutzmann; J Letsch; V Marion; H Dollfus |
Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-4-5 |
Journal Detail:
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Title: Progress in retinal and eye research Volume: - ISSN: 1873-1635 ISO Abbreviation: - Publication Date: 2011 Apr |
Date Detail:
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Created Date: 2011-4-11 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9431859 Medline TA: Prog Retin Eye Res Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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Copyright © 2011 Elsevier Ltd. All rights reserved. |
Affiliation:
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Laboratoire de physiopathologie des syndromes rares et héréditaires, EA 3949, Avenir INSERM, Faculté de Médecine de Strasbourg, Strasbourg, France. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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