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PRPF8 activates Retinitis Pigmentosa. 2 / 2
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"The authors differentiated gene-corrected patient urinary iPSCs to RPE cells and generated 3D ROs rescuing photoreceptor structure and electrophysiological properties, reversing the observed ciliopathy and restoring gene expression to a level in accordance with that in the control using transcriptome-based analysis.A study by Foltz and colleagues [100] describes the use of genome editing technology in patient-derived iPSCs to correct the c.6901C>T point mutation in the PRPF8 gene that causes Retinitis Pigmentosa 13 (RP13), thus generating an isogenic control line for cellular modelling."
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"A better knowledge of how Prp8 suppresses the effect of mutations at well-conserved 5′-GU and 3′-branch-point sites under the control of various DExD/H-box proteins could open a novel way to correct t[MISSING/INVALID CREDENTIALS: limited to 200 char for Elsevier]"
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