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Activation of autophagy reverses progressive and deleterious protein aggregation in PRPF31 patient‐induced pluripotent stem cell‐derived retinal pigment epithelium cells

INTRODUCTION: Mutations in pre‐mRNA processing factor 31 (PRPF31), a core protein of the spliceosomal tri‐snRNP complex, cause autosomal‐dominant retinitis pigmentosa (adRP). It has remained an enigma why mutations in ubiquitously expressed tri‐snRNP proteins result in retina‐specific disorders, and...

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Detalles Bibliográficos
Autores principales:	Georgiou, Maria, Yang, Chunbo, Atkinson, Robert, Pan, Kuan‐Ting, Buskin, Adriana, Molina, Marina Moya, Collin, Joseph, Al‐Aama, Jumana, Goertler, Franziska, Ludwig, Sebastian E. J., Davey, Tracey, Lührmann, Reinhard, Nagaraja‐Grellscheid, Sushma, Johnson, Colin A., Ali, Robin, Armstrong, Lyle, Korolchuk, Viktor, Urlaub, Henning, Mozaffari‐Jovin, Sina, Lako, Majlinda
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2022
Materias:	Research Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8926896/ https://www.ncbi.nlm.nih.gov/pubmed/35297555 http://dx.doi.org/10.1002/ctm2.759

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