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The structure of neurofibromin isoform 2 reveals different functional states [PDF]
Nature, 2021 AbstractThe autosomal dominant monogenetic disease neurofibromatosis type 1 (NF1) affects approximately one in 3,000 individuals and is caused by mutations in the NF1 tumour suppressor gene, leading to dysfunction in the protein neurofibromin (Nf1)1,2.
Andreas Naschberger +2 more
exaly +4 more sources
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The association of NF2 (neurofibromin 2) gene polymorphism and the risk of medulloblastomas
Neurological Sciences, 2018To explore the relationship between NF2 promoter gene mutation and the risk of medulloblastomas (MBs). We collected tissues from 16 MB patients and 7 age-matched non-MB controls. Gene sequencing, qPCR (real-time quantitative polymerase chain reaction), IHC (immunohistochemistry), and WB (Western blot) were used to analyze the changes in the NF2 gene ...
Cailei Zhao +6 more
semanticscholar +3 more sources
, 2012 Alterations in phosphorylation-dependent signalling pathways, accumulation of aggregated proteins in the brain and neuronal apoptosis are common to neurodegeneration and implicate overlapping molecular mechanism. To gain insight into involved pathways, a modified yeast-two hybrid (Y2H) system was applied to screen 71 proteins associated with ...
Josephine M. Worseck
semanticscholar +2 more sources
Neurofibromin interacts with CRMP-2 and CRMP-4 in rat brain
Biochemical and Biophysical Research Communications, 2008Neurofibromin, encoded by the neurofibromatosis type 1 (NF1) gene, regulates the Ras and cAMP pathways and plays a role in proliferation and neuronal morphogenesis. The details of the molecular mechanism of neurofibromin action in these processes are still unclear.
Yi-Ling, Lin, Yi-Ping, Hsueh
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Role of Neurofibromin in Modulation of Expression of the Tyrosinase-Related Protein 2 Gene
Journal of Biochemistry, 1998Tyrosinase-related protein 2 (TRP-2)/DOPAchrome tautomerase is an enzyme involved in melanin biosynthesis and plays an important role in cytoprotection by preventing the production of a toxic melanin precursor, 5,6-dihydroxyindole. Neurofibromin is the protein product of a gene linked to neurofibromatosis type 1 (NF1), which is characterized by ...
H, Suzuki +6 more
openaire +2 more sources
Biochemical and Biophysical Research Communications, 2010
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 ...
Volta Manuela +3 more
openaire +4 more sources
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 ...
Volta Manuela +3 more
openaire +4 more sources
2022
Transposable elements are DNA sequences that can mobilize to new genomic locations and have had a profound impact on human genome evolution. Although ~45% of the human genome consists of transposable element-derived sequences, Long INterspersed Element-1 (LINE-1 or L1) is the only active transposable element in the human genome. L1s can mobilize (i.e.,
openaire +2 more sources
Transposable elements are DNA sequences that can mobilize to new genomic locations and have had a profound impact on human genome evolution. Although ~45% of the human genome consists of transposable element-derived sequences, Long INterspersed Element-1 (LINE-1 or L1) is the only active transposable element in the human genome. L1s can mobilize (i.e.,
openaire +2 more sources
International Journal of Molecular Sciences
Mesothelioma is characterized by the inactivation of tumor suppressor genes, with frequent mutations in neurofibromin 2 (NF2), BRCA1-associated protein 1 (BAP1), and cyclin-dependent kinase inhibitor 2A (CDKN2A).
Taketo Kato +14 more
semanticscholar +1 more source
Mesothelioma is characterized by the inactivation of tumor suppressor genes, with frequent mutations in neurofibromin 2 (NF2), BRCA1-associated protein 1 (BAP1), and cyclin-dependent kinase inhibitor 2A (CDKN2A).
Taketo Kato +14 more
semanticscholar +1 more source