Loss of neurofibromin induces inflammatory macrophage phenotypic switch and retinal neovascularization via GLUT1 activation [PDF]
Cell ReportsSummary: Persons with neurofibromatosis type 1 (NF1) exhibit enhanced glucose metabolism, which is replicated in Nf1-mutant mice. Inflammatory macrophages invest NF1-associated tumors, and targeting macrophages appears efficacious in NF1 models ...
Zsuzsanna Bordan, Brian K Stansfield
exaly +4 more sources
A Conserved Circadian Function for the Neurofibromatosis 1 Gene [PDF]
Cell Reports, 2018 Summary: Loss of the Neurofibromatosis 1 (Nf1) protein, neurofibromin, in Drosophila disrupts circadian rhythms of locomotor activity without impairing central clock function, suggesting effects downstream of the clock.
Lei Bai +10 more
doaj +4 more sources
Metabolic and behavioral effects of neurofibromin result from differential recruitment of MAPK and mTOR signaling. [PDF]
PLoS GeneticsNeurofibromatosis type 1 results from mutations in the NF1 gene and its encoded neurofibromin protein. This condition produces multiple symptoms, including tumors, behavioral alterations, and metabolic changes. Molecularly, neurofibromin mutations affect
Valentina Botero +6 more
doaj +2 more sources
Neurofibromin Structure, Functions and Regulation
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).
Michel Doudeau +2 more
exaly +3 more sources
Valosin-Containing Protein Contributes to Plexiform Neurofibroma Formation and Represents a Novel Therapeutic Target [PDF]
CellsNeurofibromatosis type 1 (NF1) patients are predisposed to develop plexiform neurofibromas (PNFs). By cross-comparison of RNA sequencing and RUNX1-CHIP sequencing data on mouse PNFs, we found that transcripts encoding the NF1-interacting p97/valosin ...
Lalitha Gopalan +9 more
doaj +2 more sources
A haploinsufficiency restoration strategy corrects neurobehavioral deficits in Nf1+/– mice [PDF]
The Journal of Clinical InvestigationNeurofibromatosis type 1 (NF1) is a genetic disorder caused by mutations of the NF1 tumor suppressor gene resulting in the loss of function of neurofibromin, a GTPase-activating protein (GAP) for Ras.
Su Jung Park +18 more
doaj +2 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
Juan Báez-Flores +2 more
exaly +3 more sources
Unraveling novel variants in the NF1 gene and investigating potential therapeutic strategies [PDF]
Scientific ReportsGermline mutations in the NF1 gene disrupt neurofibromin function, leading to autosomal-dominant neurofibromatosis type I (NF1). As a tumor suppressor, neurofibromin negatively regulates the RAS signaling.
Jianmei Huang +10 more
doaj +2 more sources
Neuroretinal dysfunction in patients affected by neurofibromatosis type 1 [PDF]
International Journal of Ophthalmology, 2022 AIM: To examine neuroretinal function by using the multifocal electroretinography (mfERG) test in patients with neurofibromatosis type 1 (NF1) without optic pathway gliomas (OPGs).
Antonietta Moramarco +8 more
doaj +1 more source
Neurofibromin 1 is a miRNA target in neurons. [PDF]
PLoS ONE, 2012 Mutations of the neurofibromin 1 gene cause neurofibromatosis type 1, a disease in which learning and behavioral abnormalities are common. The disease is completely penetrant but shows variable phenotypic expression in patients.
Maria Paschou, Epaminondas Doxakis
doaj +1 more source