TY - JOUR
T1 - Usher proteins in inner ear structure and function
AU - Ahmed, Zubair M.
AU - Frolenkov, Gregory I.
AU - Riazuddin, Saima
PY - 2013/11/1
Y1 - 2013/11/1
N2 - 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 understasnding the exact mechanisms of MET.
AB - 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 understasnding the exact mechanisms of MET.
KW - CIB2
KW - Calcium buffer
KW - Inner ear
KW - Retinitis pigmentosa
KW - Usher syndrome
UR - http://www.scopus.com/inward/record.url?scp=84887118257&partnerID=8YFLogxK
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U2 - 10.1152/physiolgenomics.00135.2013
DO - 10.1152/physiolgenomics.00135.2013
M3 - Review article
C2 - 24022220
AN - SCOPUS:84887118257
SN - 1094-8341
VL - 45
SP - 987
EP - 989
JO - Physiological Genomics
JF - Physiological Genomics
IS - 21
ER -