Topic: Microtubule Associated Proteins

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

Neurons are characterised by their intricate polarised morphology, crucial for proper CNS function. Achieving and maintaining this morphology is essential, facilitated by microtubules, key constituents of the neuronal cytoskeleton. Microtubule function is modulated by Microtubule Associated Proteins (MAPs), among which microtubule-stabilising MAP6d1 stands out for being the first neuronal protein identified to be directly involved in the formation of microtubule doublets in vitro. Microtubule doublets are highly stable structures specifically crucial for the formation and functioning of cilia