AMPK modulation ameliorates dominant disease phenotypes of CTRP5 variant in retinal degeneration

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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8660775/
https://www.ncbi.nlm.nih.gov/pubmed/34887495
http://dx.doi.org/10.1038/s42003-021-02872-x

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