Article
The role of splicing factors in retinitis pigmentosa: links to cilia.
Biochemical Society transactions - 30 Jun 2021
Maxwell Dale W, O'Keefe Raymond T, Roy Sudipto, Hentges Kathryn E
Abstract excerpt
Cilia are critical to numerous biological functions, both in development and everyday homeostatic processes. Diseases arising from genetic mutations that cause cilia dysfunction are termed ciliopathies. Several ubiquitously expressed splicing factors have been implicated in the condition Retinitis Pigmentosa (RP), a group of diseases characterised by the progressive degeneration of the retina. In many types of RP...
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