{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Mo J"],"funding":["- Neurofibromatosis Therapeutic Acceleration Program - NF1 Research Consortium Fund - Giorgio Foundation","U.S. Department of Health & Human Services | NIH | National Cancer Institute","NCI NIH HHS"],"pagination":["1235-1251"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9063229"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["41(9)"],"pubmed_abstract":["Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disease and one of the most common inherited tumor predisposition syndromes, affecting 1 in 3000 individuals worldwide. The NF1 gene encodes neurofibromin, a large protein with RAS GTP-ase activating (RAS-GAP) activity, and loss of NF1 results in increased RAS signaling. Neurofibromin contains many other domains, and there is considerable evidence that these domains play a role in some manifestations of NF1. Investigating the role of these domains as well as the various signaling pathways that neurofibromin regulates and interacts with will provide a better understanding of how neurofibromin acts to suppress tumor development and potentially open new therapeutic avenues. In this review, we discuss what is known about the struc"],"journal":["Oncogene"],"pubmed_title":["Neurofibromin and suppression of tumorigenesis: beyond the GAP."],"pmcid":["PMC9063229"],"funding_grant_id":["R01 CA166593","U54 CA196519"],"pubmed_authors":["Le LQ","McKay RM","Mo J","Moye SL"],"additional_accession":[]},"is_claimable":false,"name":"Neurofibromin and suppression of tumorigenesis: beyond the GAP.","description":"Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disease and one of the most common inherited tumor predisposition syndromes, affecting 1 in 3000 individuals worldwide. The NF1 gene encodes neurofibromin, a large protein with RAS GTP-ase activating (RAS-GAP) activity, and loss of NF1 results in increased RAS signaling. Neurofibromin contains many other domains, and there is considerable evidence that these domains play a role in some manifestations of NF1. Investigating the role of these domains as well as the various signaling pathways that neurofibromin regulates and interacts with will provide a better understanding of how neurofibromin acts to suppress tumor development and potentially open new therapeutic avenues. In this review, we discuss what is known about the struc","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Feb","modification":"2025-05-18T12:06:09.277Z","creation":"2025-04-05T20:40:52.056Z"},"accession":"S-EPMC9063229","cross_references":{"pubmed":["35066574"],"doi":["10.1038/s41388-021-02156-y"]}}