Mutant PRPF8 Causes Widespread Splicing Changes in Spliceosome Components in Retinitis Pigmentosa Patient iPSC-Derived RPE Cells

Retinitis pigmentosa (RP) is a rare, progressive disease that affects photoreceptors and retinal pigment epithelial (RPE) cells with blindness as a final outcome. Despite high medical and social impact, there is currently no therapeutic options to slow down the progression of or cure the disease. Th...

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Detaylı Bibliyografya
Yayımlandı:Front Neurosci
Asıl Yazarlar: Arzalluz-Luque, Ángeles, Cabrera, Jose Luis, Skottman, Heli, Benguria, Alberto, Bolinches-Amorós, Arantxa, Cuenca, Nicolás, Lupo, Vincenzo, Dopazo, Ana, Tarazona, Sonia, Delás, Bárbara, Carballo, Miguel, Pascual, Beatriz, Hernan, Imma, Erceg, Slaven, Lukovic, Dunja
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Frontiers Media S.A. 2021
Konular:
Neuroscience
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC8116631/
https://ncbi.nlm.nih.gov/pubmed/33994920
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fnins.2021.636969
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