Abstract:
:Usher syndrome (USH) is a neurosensory disorder affecting both hearing and vision in humans. Linkage studies of families of USH patients, studies in animals, and characterization of purified proteins have provided insight into the molecular mechanisms of hearing. To date, 11 USH proteins have been identified, and evidence suggests that all of them are crucial for the function of the mechanosensory cells of the inner ear, the hair cells. Most USH proteins are localized to the stereocilia of the hair cells, where mechano-electrical transduction (MET) of sound-induced vibrations occurs. Therefore, elucidation of the functions of USH proteins in the stereocilia is a prerequisite to understanding the exact mechanisms of MET.
journal_name
Physiol Genomicsjournal_title
Physiological genomicsauthors
Ahmed ZM,Frolenkov GI,Riazuddin Sdoi
10.1152/physiolgenomics.00135.2013subject
Has Abstractpub_date
2013-11-01 00:00:00pages
987-9issue
21eissn
1094-8341issn
1531-2267pii
physiolgenomics.00135.2013journal_volume
45pub_type
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