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Retinitis Pigmentosa Caused By Mutations In The Ciliary Mak Gene Is Relatively Mild And Is Not Associated With Apparent Extra-Ocular Features
Purpose: Defects in MAK, encoding a protein localized to the photoreceptor connecting cilium, have recently been associated with autosomal recessive retinitis pigmentosa (RP). The aim of this study is to describe our ...
Dynamics Of The Rhomboid-Like Protein Rhbdd2 Expression In Mouse Retina And Involvement Of Its Human Ortholog In Retinitis Pigmentosa
(Amer Soc Biochemistry Molecular Biology Inc, 2013)
The novel rhomboid-like protein RHBDD2 is distantly related to rhomboid proteins, a group of highly specialized membrane-bound proteases that catalyze regulated intramembrane proteolysis. In retina, RHBDD2 is expressed ...