Neurofibromin expression by normal salivary glands [PDF]
Head & Face Medicine, 2021 Introduction Neurofibromin, a protein encoded by the NF1 gene, is mutated in neurofibromatosis 1, one of the most common genetic diseases. Oral manifestations are common and a high prevalence of hyposalivation was recently described in individuals with ...
Eloá Borges Luna +3 more
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Neurofibromin controls macropinocytosis and phagocytosis in Dictyostelium
eLife, 2015 Cells use phagocytosis and macropinocytosis to internalise bulk material, which in phagotrophic organisms supplies the nutrients necessary for growth. Wildtype Dictyostelium amoebae feed on bacteria, but for decades laboratory work has relied on axenic ...
Gareth Bloomfield +5 more
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Neurofibromin 1 mediates sleep depth in Drosophila.
PLoS Genetics, 2023 Neural regulation of sleep and metabolic homeostasis are critical in many aspects of human health. Despite extensive epidemiological evidence linking sleep dysregulation with obesity, diabetes, and metabolic syndrome, little is known about the neural and
Elizabeth B Brown +6 more
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Pathogenic Neurofibromatosis type 1 gene variants in tumors of non-NF1 patients and role of R1276. [PDF]
FEBS Open BioSomatic variants of the neurofibromatosis type 1 (NF1) gene occur across neoplasms without clinical manifestation of the disease NF1. We identified emerging somatic pathogenic NF1 variants and hotspots, for example, at the arginine finger 1276. Those missense variants provide fundamental information about neurofibromin's role in cancer.
Selig M +7 more
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Mechanistic insights from animal models of neurofibromatosis type 1 cognitive impairment
Disease Models & Mechanisms, 2022 Neurofibromatosis type 1 (NF1) is an autosomal-dominant neurogenetic disorder caused by mutations in the gene neurofibromin 1 (NF1). NF1 predisposes individuals to a variety of symptoms, including peripheral nerve tumors, brain tumors and cognitive ...
Andrew H. Miller, Mary C. Halloran
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The therapeutic potential of neurofibromin signaling pathways and binding partners
Communications Biology, 2023 Neurofibromin controls many cell processes, such as growth, learning, and memory. If neurofibromin is not working properly, it can lead to health problems, including issues with the nervous, skeletal, and cardiovascular systems and cancer.
Juan Báez-Flores +2 more
doaj +1 more source
Genetic interactions between neurofibromin and endothelin receptor B in mice. [PDF]
PLoS ONE, 2013 When mutations in two different genes produce the same mutant phenotype, it suggests that the encoded proteins either interact with each other, or act in parallel to fulfill a similar purpose.
Mugdha Deo +2 more
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Sensitivity of malignant peripheral nerve sheath tumor cells to TRAIL is augmented by loss of NF1 through modulation of MYC/MAD and is potentiated by curcumin through induction of ROS. [PDF]
PLoS ONE, 2013 Malignant peripheral nerve sheath tumor (MPNST) is a rare aggressive form of sarcoma often associated with the tumor syndrome neurofibromatosis type 1 (NF1).
David E Reuss +6 more
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Neurofibromin and suppression of tumorigenesis: beyond the GAP [PDF]
Oncogene, 2022 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.
Juan Mo +3 more
openaire +2 more sources
Neurofibromin regulates metabolic rate via neuronal mechanisms in Drosophila
Nature Communications, 2021 Neurofibromatosis type 1 (NF1) is a genetic disorder caused by mutations in neurofibromin and associated with disruptions in physiology and behavior. Here the authors show that neurofibromin regulates metabolic homeostasis via a discrete brain circuit in
Valentina Botero +12 more
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