Neurofibromin Structure, Functions and Regulation [PDF]
Cells, 2020 Neurofibromin is a large and multifunctional protein encoded by the tumor suppressor gene NF1, mutations of which cause the tumor predisposition syndrome neurofibromatosis type 1 (NF1).
Mohammed Bergoug +5 more
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Identification of Germinal Neurofibromin Hotspots
Biomedicines, 2022 Neurofibromin is engaged in many cellular processes and when the proper protein functioning is impaired, it causes neurofibromatosis type 1 (NF1), one of the most common inherited neurological disorders. Recent advances in sequencing and screening of the
Sergio Lois +4 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
doaj +3 more sources
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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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
europepmc +2 more sources
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
doaj +1 more source
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
doaj +1 more source
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
doaj +1 more source
Rare Association Between Neurofibromatosis Type 1 and Adrenocortical Carcinoma. [PDF]
Clin Case RepAxial slice CT abdomen pelvis with portal venous contrast, revealing a well circumscribed 22 × 20 × 22 mm left adrenocortical adenocarcinoma (ACC) in a patient with neurofibromatosis type 1 (NF1). ABSTRACT Although rare, adrenocortical carcinoma (ACC) should be considered in individuals with neurofibromatosis type 1 (NF1) presenting with adrenal ...
Pluim Z +6 more
europepmc +2 more sources