CORDIS Project
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This project investigates the molecular mechanisms behind mutations in splicing factors linked to Retinitis Pigmentosa, a genetic disorder. By analyzing spliceosomal networks and transcriptomes, the research aims to identify how these mutations affect gene regulation and contribute to disease pathology.
More than 95% of human genes undergo pre-mRNA splicing, and alternative splicing of mRNA precursors represents a prevalent mode of gene regulation.
Errors in this process are often the origin of of disorders.
Most of splicing-related diseases are caused by perturbation in pre-mRNA transcripts which lead to their aberrant processing.
Interestingly, a fraction of mutations affecting directly splicing factors, including core spliceosomal components, has been linked to a group of pathologies.
Partic…
FUNDACIO CENTRE DE REGULACIO GENOMICA
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