Topic: NF1 gene

Neurofibromatosis type 1 (NF1) is a genetic disorder caused by reduction or absence of neurofibromin due to mutations in the NF1 gene that result in multiple behavioral defects among other aberrant phenotypes. To directly assess the consequences of Nf1 deficiency on evoked neuronal activity, potentially underlying neuroplasticity defects, we utilized null mutations, point mutations, and RNA interference to manipulate Nf1 levels in Drosophila melanogaster. Our study focused on assessing the functional alterations in the giant fiber system, a well-established electrophysiological model to study

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