Usher proteins in inner ear structure and function

Zubair M. Ahmed, Gregory I. Frolenkov, Saima Riazuddin

Research output: Contribution to journalReview articlepeer-review

25 Scopus citations

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 understasnding the exact mechanisms of MET.

Original languageEnglish
Pages (from-to)987-989
Number of pages3
JournalPhysiological Genomics
Volume45
Issue number21
DOIs
StatePublished - Nov 1 2013

Keywords

  • CIB2
  • Calcium buffer
  • Inner ear
  • Retinitis pigmentosa
  • Usher syndrome

ASJC Scopus subject areas

  • Physiology
  • Genetics

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