Results 11 to 20 of about 296 (112)
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
doaj +3 more sources
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
doaj +3 more sources
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
doaj +3 more sources
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 is actively transported to the nucleus [PDF]
FEBS Letters, 2004 Mutations in the neurofibromatosis type 1 (NF1) tumor suppressor gene predispose individuals to a variety of benign and malignant tumors. Many tumor suppressors ‘shuttle’ between the nucleus and the cytoplasm, thus regulating their function. By expressing different NF1 constructs in COS‐7 cells (encompassing exons 28–49 and fused to the green ...
Vandenbroucke, Ina +4 more
openaire +2 more sources
Notching in the Posterior Border of the Ramus of Mandible in a Patient with Neurofibromatosis Type I – A Case Report [PDF]
Journal of Clinical and Diagnostic Research, 2013 Neurofibromatosis Type I (NFI) is a relatively common hereditary, autosomal dominant neurocutaneous condition. It is a benign peripheral nerve sheath tumour arising from Schwann cells and peripheral fibroblasts.
Bhuvana Krishnamoorthy +4 more
doaj +1 more source
Targeted exon skipping of NF1 exon 17 as a therapeutic for neurofibromatosis type I
Molecular Therapy: Nucleic Acids, 2022 We investigated the feasibility of utilizing an exon-skipping approach as a genotype-dependent therapeutic for neurofibromatosis type 1 (NF1) by determining which NF1 exons might be skipped while maintaining neurofibromin protein expression and GTPase ...
André Leier +15 more
doaj +1 more source
Neurobiology of Disease, 1995 Vascular pathology is an underestimated complication of neurofibromatosis 1 (NF1). Manifestations include renovascular stenosis with associated hypertension, cerebrovascular occlusion, visceral ischaemia and aneurysms of smaller arteries.
Karen K. Norton +2 more
doaj +1 more source
Scientific Reports, 2021 Neurofibromatosis Type 1 (NF1) is a genetic condition affecting approximately 1:3500 persons worldwide. The NF1 gene codes for neurofibromin protein, a GTPase activating protein (GAP) and a negative regulator of RAS.
Josep Biayna +11 more
doaj +1 more source