title: Current therapeutic strategies for P23H RHO-linked RP.
abstract: The first autosomal dominant mutation identified to cause retinitis pigmentosa in the North American population was the substitution of proline to histidine at position 23 of the rhodopsin gene (P23H RHO). Many biochemical studies have demonstrated that P23H mutation induces rhodopsin (RHO) misfolding leading to endoplasmic reticulum stress. Herein, we review current thinking of this topic.
authors.affiliation: The Ocular Genetics Unit, Smurfit Institute of Genetics, Trinity College Dublin, College Green, Dublin 2, Ireland, nguyenat@tcd.ie.
authors.forename: Anh T H
authors.initials: AT
authors.lastname: Nguyen
authors.forename: Matthew
authors.initials: M
authors.lastname: Campbell
authors.forename: Anna-Sophia
authors.initials: AS
authors.lastname: Kiang
authors.forename: Marian M
authors.initials: MM
authors.lastname: Humphries
authors.forename: Peter
authors.initials: P
authors.lastname: Humphries
mesh_terms: D000818:Animals; D004195:Disease Models, Animal; D059865:Endoplasmic Reticulum Stress / Q000235:genetics; D005799:Genes, Dominant; D006801:Humans; D057165:Proteostasis Deficiencies / Q000235:genetics* / Q000628:therapy*; D012174:Retinitis Pigmentosa / Q000235:genetics* / Q000628:therapy*; D012243:Rhodopsin / Q000235:genetics*
chemical_list: D012243:Rhodopsin