Neurofibromin is enriched in the endoplasmic reticulum of CNS neurons

摘要: NF1 patients display CNS abnormalities including learning disabilities, clumsiness, astrocytomas, and on magnetic resonance imaging exams. To determine whether the cellular neuroanatomical distribution of neurofibromin reveals possible function for in brain, we stained rat brain tissue sections with anti-neurofibromin antibodies. Neurofibromin is highly enriched large projection neurons, such as cortical hippocampal pyramidal cells cerebellar Purkinje cells. present cell bodies axons, but dendrites. Immunoelectron microscopic analysis demonstrates that associated smooth vesiculotubular elements cisternal stacks multivesicular body dendrites, not plasma membrane, nucleus, nuclear envelope, Golgi apparatus, mitochondria, or rough endoplasmic reticulum. The preferential localization to reticulum, together evidence modulates ras GTPase activity, suggests some, if all, manifestations might result from altered expression perhaps through disruption Ca2+ signaling, translocation organelles, endocytic pathways.