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Functional Characterisation Of Pendrin: The Anion Transporter Causing Pendred Syndrome
Funder
National Health and Medical Research Council
Funding Amount
$211,527.00
Summary
Mutations in the human pendrin protein cause progressive hearing loss from an early age in Pendred syndrome. Using techniques of molecular and cellular biology, we intend to test the effects of Pendred-causing mutations on the function of pendrin expressed in frog and cultured mammalian cells. Our approach will enable us to determine how pendrin functions in both the normal and diseased states, which is currently unknown. This will allow us to consider ways of correcting the ion channel defect a ....Mutations in the human pendrin protein cause progressive hearing loss from an early age in Pendred syndrome. Using techniques of molecular and cellular biology, we intend to test the effects of Pendred-causing mutations on the function of pendrin expressed in frog and cultured mammalian cells. Our approach will enable us to determine how pendrin functions in both the normal and diseased states, which is currently unknown. This will allow us to consider ways of correcting the ion channel defect associated with the Pendred syndrome.Read moreRead less