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Neurofibromin and calcium/calmodulin-dependent serine protein kinase (CASK) are membrane-associated signalling and scaffolding proteins which are mutated in human genetic neurological disorders. Syndecan-2 is a highly glycosylated transmembrane protein whose intracellular C-terminus has previously been shown to interact with the post-synaptic density 95/discs large/zonula occludens-1 (PDZ) domain of CASK and with two separate regions of neurofibromin. These three proteins collaborate to orchestrate the induction of filopodia and dendritic spines. We have used systematic mutagenesis of the intracellular region of syndecan-2 and a quantitative yeast two-hybrid (Y2H) assay to study the determinants of their interactions. We show that syndecan's interactions with both CASK and neurofibromin are dependent on syndecan homodimerization and that neurofibromin largely interacts with the membrane-proximal part of the dimeric syndecan intracellular domain, leaving the membrane-distal C-terminus free to interact with CASK. We conducted a phylogenetic study of syndecan sequences, finding correspondence between conserved residues and mutations affecting both dimerization and interactions; we also find that fish have a very different syndecan repertoire from tetrapods. Further Y2H screens reveal that syndecan-2 interacts with a third distinct region of neurofibromin, and that the multiple neurofibromin regions bind competitively, rather than co-operatively, to syndecan. We combine these results to propose a model for the ternary syndecan-neurofibromin-CASK complex.
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http://dx.doi.org/10.1016/j.bbrc.2009.12.043 | DOI Listing |
Front Neurol
August 2025
Department of Neurosurgery, Children's Hospital Affiliated to Shandong University, Jinan, China.
Background And Aim: Neurofibromatosis type 1 (NF1) is an autosomal dominant tumor predisposition syndrome caused by pathogenic variants in the NF1 gene. It exhibits highly variable and unpredictable clinical manifestations involving multiple organ systems, with café-au-lait macules and multiple neurofibromas being hallmark features. Epilepsy represents a common central nervous system complication in NF1, though its underlying mechanisms remain poorly understood.
View Article and Find Full Text PDFFront Neurol
August 2025
The Eaton-Peabody Laboratories, The Massachusetts Eye and Ear Department of Otolaryngology - Head and Neck Surgery, Boston, MA, United States.
Sensorineural hearing loss (SNHL) is a hallmark symptom in patients with neurofibromatosis type 2-associated schwannomatosis (NF2-SWN), a genetic condition caused by mutations in the Neurofibromin II gene that encodes the tumor suppressor protein Moesin-Ezrin-Radixin-Like Protein (Merlin; also known as schwannomin). These mutations lead to the development of various tumors, including schwannomas, ependymomas and meningiomas along the vestibular nerve and the cerebellopontine angle. Original theories attributed SNHL in NF2-SWN to the mechanical compression of the vestibulocochlear nerve from the tumor itself, in addition to secretion of toxic tumor byproducts.
View Article and Find Full Text PDFInt J Dev Neurosci
October 2025
Department of Neurology, Children's Hospital Affiliated to Shandong University, Jinan, Shandong, China.
Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder, with plexiform neurofibromas occurring in approximately 20%-50% of patients. A 12-year-old girl underwent surgery due to unbearable pain caused by diffuse neurofibromas. Postoperatively, the girl exhibited rapid growth and extremely extensive plexiform neurofibromas, with multiple plexiform neurofibromas that were inoperable.
View Article and Find Full Text PDFHum Genomics
August 2025
Laboratory of Translational Oncology, European Institute of Oncology IRCCS, Milan, Italy.
Identification of a pathogenic variant in NF1 is diagnostic for neurofibromatosis, but is often impossible at the moment of variant detection due to many factors including allelic heterogeneity, sequence homology, and the lack of functional assays. Computational tools may aid in interpretation but are not established for NF1. Here, we optimized our random forest-based predictor RENOVO for NF1 variant interpretation.
View Article and Find Full Text PDFInt J Dev Neurosci
August 2025
Department of Neurology, Children's Hospital Affiliated to Shandong University/Jinan Children's Hospital, Jinan, China.
Background: Neurofibromatosis type 1 (NF1) is an autosomal dominant neurocutaneous syndrome. NF1-related vasculopathy represents a clinically significant yet underrecognized complication. Moyamoya syndrome, a rare cerebrovascular manifestation of NF1, has been rarely reported in the paediatric population.
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