Topic: Neurofibromatosis-1

Alternative splicing is a crucial mechanism expanding transcriptome and proteome diversity, with post-translational modifications further enhancing this complexity. Our research focuses on Neurofibromatosis-1 (NF-1), caused by mutations in the NF1 gene that encodes neurofibromin and impacts both learning as well as glioblastoma development. Major alternate exons in the NF1 mRNA are exon31, involved in the production of transcripts and isoforms with different RasGAP potencies; and exon51, which bears a nuclear localization signal (NLS) leading to the production of NLS variants that enter the nu