Deciphering the Impact of PROM1 Alternative Splicing on Human Photoreceptor Development and Maturation
Majlinda Lako,
Marina Moya Molina,
Birthe Dorgau
et al.
Abstract:Conclusions: Importantly, the use of retinal organoids provides a valuable platform to study AS and unravel disease mechanisms in a more physiologically relevant context, opening avenues for further research and potential therapeutic interventions. Together our data indicate that cones may be more sensitive to PROM1 exon 4 skipping, corroborating the pathogenesis of late-onset mild maculopathy.
Introduction: Alternative splicing (AS) is a crucial mechanism contributing to proteomic diversity, which is highly r… Show more
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