Article
AMPK modulation ameliorates dominant disease phenotypes of CTRP5 variant in retinal degeneration.
Communications biology - 9 Dec 2021
Miyagishima Kiyoharu J, Sharma Ruchi, Nimmagadda Malika, Clore-Gronenborn Katharina, Qureshy Zoya, Ortolan Davide, Bose Devika, Farnoodian Mitra, Zhang Congxiao, Fausey Andrew, Sergeev Yuri V, Abu-Asab Mones, Jun Bokkyoo, Do Khanh V, Kautzman Guerin Marie-Audrey, Calandria Jorgelina, George Aman, Guan Bin, Wan Qin, Sharp Rachel C, Cukras Catherine, Sieving Paul A, Hufnagel Robert B, Bazan Nicolas G, Boesze-Battaglia Kathleen, Miller Sheldon, Bharti Kapil
Abstract excerpt
Late-onset retinal degeneration (L-ORD) is an autosomal dominant disorder caused by a missense substitution in CTRP5. Distinctive clinical features include sub-retinal pigment epithelium (RPE) deposits, choroidal neovascularization, and RPE atrophy. In induced pluripotent stem cells-derived RPE from L-ORD patients (L-ORD-iRPE), we show that the dominant pathogenic CTRP5 variant leads to reduced CTRP5 secretion....
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