Neurofibromin 1 mediates sleep depth in Drosophila. [PDF]
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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Neurofibromin 1 regulates early developmental sleep in Drosophila [PDF]
Neurobiology of Sleep and Circadian Rhythms, 2023 Sleep disturbances are common in neurodevelopmental disorders, but knowledge of molecular factors that govern sleep in young animals is lacking. Evidence across species, including Drosophila, suggests that juvenile sleep has distinct functions and ...
Jaclyn Durkin +6 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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Neurofibromin 1 Impairs Natural Killer T-Cell-Dependent Antitumor Immunity against a T-Cell Lymphoma [PDF]
Frontiers in Immunology, 2018 Neurofibromin 1 (NF1) is a tumor suppressor gene encoding a Ras GTPase that negatively regulates Ras signaling pathways. Mutations in NF1 are linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome.
Jianyun Liu +6 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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MicroRNA-193b enhances tumor progression via down regulation of neurofibromin 1. [PDF]
PLoS ONE, 2013 Despite improvements in therapeutic approaches for head and neck squamous cell carcinomas (HNSCC), clinical outcome has remained disappointing, with 5-year overall survival rates hovering around 40-50%, underscoring an urgent need to better understand ...
Michelle Lenarduzzi +7 more
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Neurofibromin 1 controls metabolic balance and Notch-dependent quiescence of murine juvenile myogenic progenitors [PDF]
Nature CommunicationsPatients affected by neurofibromatosis type 1 (NF1) frequently show muscle weakness with unknown etiology. Here we show that, in mice, Neurofibromin 1 (Nf1) is not required in muscle fibers, but specifically in early postnatal myogenic progenitors (MPs),
Xiaoyan Wei +13 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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Neurofibromin 1 mutations impair the function of human induced pluripotent stem cell-derived microglia [PDF]
Disease Models & Mechanisms, 2023 Leonard D. Kuhrt +14 more
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A Novel Frameshift Mutation in Neurofibromin 1 Gene in a Chinese Family with Neurofibromatosis Type 1 [PDF]
Chinese Medical Journal, 2017 Ying-Ying Dong +9 more
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