Alternative splicing in genetic diseases: improved diagnosis and novel treatment options

AJ Bergsma, E van der Wal, M Broeders… - International review of …, 2018 - Elsevier
Alternative splicing is an important mechanism to regulate gene expression and to expand
the repertoire of gene products in order to accommodate an increase in complexity of
multicellular organisms. It needs to be precisely regulated, which is achieved via RNA
structure, splicing factors, transcriptional regulation, and chromatin. Changes in any of these
factors can lead to disease. These may include the core spliceosome, splicing
enhancer/repressor sequences and their interacting proteins, the speed of transcription by …