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
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
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
doaj +1 more source
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
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
Advancement in research and therapy of NF1 mutant malignant tumors
Cancer Cell International, 2020 The NF1 gene encodes neurofibromin, which is one of the primary negative regulatory factors of the Ras protein. Neurofibromin stimulates the GTPase activity of Ras to convert it from an active GTP-bound form to its inactive GDP-bound form through its ...
Junyan Tao +4 more
doaj +1 more source
The Contribution of Oxidative Stress to NF1-Altered Tumors
Antioxidants, 2023 The neurofibromatosis-1 gene (NF1) was initially characterized because its germline mutation is responsible for an inherited syndromic disease predisposing tumor development, in particular neurofibromas but also various malignancies.
Elisabetta Kuhn +6 more
doaj +1 more source