Article
Gene therapy rescues olfactory perception in a clinically relevant ciliopathy model of Bardet-Biedl syndrome.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology - 1 Sept 2021
Xie Chao, Habif Julien C, Uytingco Cedric R, Ukhanov Kirill, Zhang Lian, de Celis Carlos, Sheffield Val C, Martens Jeffrey R
Abstract excerpt
Bardet-Biedl syndrome (BBS) is a hereditary genetic disorder that results in numerous clinical manifestations including olfactory dysfunction. Of at least 21 BBS-related genes that can carry multiple mutations, a pathogenic mutation, BBS1M390R, is the single most common mutation of clinically diagnosed BBS outcomes. While the deletion of BBS-related genes in mice can cause variable penetrance in different organ...
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