Functional analysis of two novel retinitis pigmentosa mutations reveals structural role of the third transmembrane helix in rhodopsin photoactivation.

Abstract excerpt

Mutations in the visual receptor rhodopsin are a common cause of inherited retinal diseases. Many of these mutations occur within the transmembrane core of the receptor and can impact in its folding and function. In this study, we investigate two mutations associated with the retinal degenerative disease retinitis pigmentosa, T1083.23P and G1213.36R, both located in the third transmembrane helix of rhodopsin and...

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