Document Detail


Update on Usher syndrome.
MedLine Citation:
PMID:  19165952     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
PURPOSE OF REVIEW: The present review addresses the mechanisms, genetics and pathogenesis of Usher syndrome.
RECENT FINDINGS: Recent molecular findings have provided more information regarding the pathogenesis of this disorder and the wide phenotypic variation in both audiovestibular and/or visual systems. Evidence has begun to emerge supporting a theory of a protein interactome involving the Usher proteins in both the inner ear and the retina. This interactome appears to be important for hair cell development in the ear but its role in the retina remains unclear.
SUMMARY: Understanding clinical disease progression and molecular pathways is important in the progress towards developing gene therapy to prevent blindness due to Usher syndrome as well as delivering prognostic information to affected individuals.
Authors:
Zubin Saihan; Andrew R Webster; Linda Luxon; Maria Bitner-Glindzicz
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Review    
Journal Detail:
Title:  Current opinion in neurology     Volume:  22     ISSN:  1473-6551     ISO Abbreviation:  Curr. Opin. Neurol.     Publication Date:  2009 Feb 
Date Detail:
Created Date:  2009-01-23     Completed Date:  2009-03-12     Revised Date:  2013-01-18    
Medline Journal Info:
Nlm Unique ID:  9319162     Medline TA:  Curr Opin Neurol     Country:  England    
Other Details:
Languages:  eng     Pagination:  19-27     Citation Subset:  IM    
Affiliation:
UCL Institute of Ophthalmology & Moorfields Eye Hospital, London, UK. z.saihan@ucl.ac.uk
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MeSH Terms
Descriptor/Qualifier:
Alleles
Animals
Databases, Genetic
Disease Models, Animal
Ear, Inner / cytology,  pathology
Extracellular Matrix Proteins / genetics,  metabolism
Genetic Predisposition to Disease*
Hair Cells, Auditory / cytology,  metabolism,  pathology
Humans
Mutation
Myosins / genetics,  metabolism
Phenotype
Protein Isoforms / genetics,  metabolism
Retina / cytology,  metabolism,  pathology
Usher Syndromes* / genetics,  pathology,  physiopathology
Chemical
Reg. No./Substance:
0/Extracellular Matrix Proteins; 0/Protein Isoforms; EC 3.6.4.1/Myosins; EC 3.6.4.1/myosin VIIa

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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