Sreelakshmi Vasudevan

2 months ago | biorxiv.org | Sreelakshmi Vasudevan |Vivek Prakash |Paul Park

AbstractA K296E mutation in rhodopsin causes autosomal dominant retinitis pigmentosa, a progressive retinal degenerative disease. Early in vitro characterizations of this mutation studied on a bovine rhodopsin background indicated that the mutation causes the receptor to be constitutively active. This molecular defect has been the primary focus when considering the pathogenic mechanism of the mutation.