Progressive accumulation of cytoplasmic aggregates in PRPF31 retinal pigment epithelium cells interferes with cell survival-Reference-Cited by-同舟云学术

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Progressive accumulation of cytoplasmic aggregates in PRPF31 retinal pigment epithelium cells interferes with cell survival

Published:2022-12 Issue:4 Volume:2 Page:
ISSN:2768-0622
Container-title:Clinical and Translational Discovery
language:en
Short-container-title:Clinical and Translational Dis

Author:

Georgiou Maria¹^ORCID,Atkinson Robert¹,Mozaffari‐Jovin Sina²³⁴,Lako Majlinda¹

Affiliation:

1. Newcastle University Biosciences Institute Newcastle upon Tyne UK

2. Max‐Planck Institute of Biophysical Chemistry Göttingen Germany

3. Medical Genetics Research Center Mashhad University of Medical Sciences Mashhad Iran

4. Department of Medical Genetics, Faculty of Medicine Mashhad University of Medical Sciences Mashhad Iran

Funder

Retina UK

Fight for Sight

H2020 European Research Council

National Institute for Medical Research Development

Publisher

Wiley

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ctd2.89

Reference20 articles.

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

2. Retinitis pigmentosa

3. Autosomal Dominant Retinitis Pigmentosa Secondary to Pre-mRNA Splicing-Factor GenePRPF31(RP11): Review of Disease Mechanism and Report of a Family with a Novel 3-Base Pair Insertion

4. The Spliceosome: Design Principles of a Dynamic RNP Machine

5. Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa

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