Publications by authors named "Avril Watson"
Article Synopsis
- - The spliceosomal protein PRPF8's carboxy-terminus mutation is linked to retinitis pigmentosa-type 13, but its specific role in human splicing and tissue-specificity is not well understood.
- - Using patient-derived stem cells with a specific PRPF8 mutation, researchers observed retinal cell defects like photoreceptor loss and ciliary issues, highlighting retinal-specific endophenotypes.
- - Detailed analyses showed that PRPF8 influences spliceosome function, affecting 5'-splice site selection and leading to splicing abnormalities, which could provide insights for future therapeutic strategies for retinal diseases.
The demand for induced pluripotent stem cells (iPSC)-derived retinal organoid and retinal pigment epithelium (RPE) models for the modelling of inherited retinopathies has increased significantly in the last decade. These models are comparable with foetal retinas up until the later stages of retinogenesis, expressing all of the key neuronal markers necessary for retinal function. These models have proven to be invaluable in the understanding of retinogenesis, particular in the context of patient-specific diseases.
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