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
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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
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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
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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 ...
Yusra Zaidi +20 more
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The NF1 somatic mutational landscape in sporadic human cancers [PDF]
Human Genomics, 2017 Background Neurofibromatosis type 1 (NF1: Online Mendelian Inheritance in Man (OMIM) #162200) is an autosomal dominantly inherited tumour predisposition syndrome.
Charlotte Philpott +4 more
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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
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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
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Neurofibromin expression by normal salivary glands
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 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
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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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