Topic: neurofibromin

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

Neurofibromatosis 1 (NF1) is a hereditary autosomal dominant disorder affecting 1 in 3500 individuals. It presents with skin abnormalities, Lisch nodules, and neurofibromas. Patients often exhibit macrocephaly, short stature, learning disabilities, and attention deficits. Children and adults with NF1 are also at increased risk for sleep disturbances. The human NF1 gene (17q11.2) encodes neurofibromin, a 2818-amino-acid protein expressed in various nervous system cells throughout life. Nf1 best-understood and evolutionarily conserved role is as a GTPase Activating Protein (GAP) for Ras, which r

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

Neurofibromatosis type 1 (NF1) is a monogenic but highly multisymptomatic disorder that affects 1:2500 individuals and results from mutations in the Nf1 tumor suppressor gene. Nf1 encodes Neurofibromin (Nf1), a large multifunctional protein, preferentially expressed in the central and peripheral nervous system, crucial for regulating multiple signaling pathways. Although typically considered a tumor predisposition syndrome, NF1 is also associated with broad cognitive and behavioral presentations, including impaired learning, attention deficit hyperactivity disorder, autism spectrum disorder, s