Results 21 to 30 of about 21,253 (159)

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, Bethany A. Stanhope, Elizabeth B. Brown, Eliza C. Grenci, Tamara Boto, Scarlet J. Park, Lanikea B. King, Keith R. Murphy, Kenneth J. Colodner, James A. Walker, Alex C. Keene, William W. Ja, Seth M. Tomchik   +12 more
doaj   +1 more source

Neurofibromatosis type 1 gene product (neurofibromin) associates with microtubules [PDF]

Somatic Cell and Molecular Genetics, 1993
The neurofibromatosis type 1 (NF1) gene was recently identified by positional cloning and found to encode a protein with structural and functional homology to mammalian and yeast GTPase-activating proteins (GAPs). Using antibodies directed against the NF1 gene product, a protein of approximately 250 kDa was identified and termed neurofibromin.
Gregory, Paula E., Gutmann, David H., Mitchell, Anna L., Park, Soochul, Boguski, Mark, Jacks, Tyler, Wood, Deborah L., Jove, Richard, Collins, Francis S.   +8 more
openaire   +3 more sources

Childhood-Onset Refractory Hypertension Results from Neurofibromatosis Type 1 Caused by a Splicing NF1 Mutation

Kidney & Blood Pressure Research, 2023
Introduction: Neurofibromatosis type 1 (NF-1) is caused by mutations in the NF1 gene that encodes neurofibromin, a negative regulator of RAS proto-oncogene.
Yi-Ting Lu, Buweimairemu Rejiepu, Di Zhang, Dong-Cheng Cai, Kun-Qi Yang, Tao Tian, Xian-Liang Zhou, Peng Fan   +7 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, Jana Mucha, Christian Hagenlocher, Volker Ehemann, Lan Kluwe, Victor Mautner, Andreas von Deimling   +6 more
doaj   +1 more source

The neurofibromatosis type 1 gene and its protein product, neurofibromin [PDF]

Neuron, 1993
Von Recklinghausen neurofibromatosis, or neurofibromatosis type 1 (NFI), affects approximately 1 in 3500 individuals of all ethnic backgrounds. It is inherited as an autosomal dominant disease and is manifested clinically by abnormalities that predominantly affect tissues which derive from the neural crest (Riccardi, 1981,199l; Riccardi and Eichner ...
Gutmann, David H., Collins, Francis S.
openaire   +3 more sources

Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1 [PDF]

Human Molecular Genetics, 1998
Neurofibromatosis type 1 (NF1) is a common familial tumour syndrome with multiple clinical features such as neurofibromas, café-au-lait spots (CLS), iris Lisch nodules, axillary freckling, optic glioma, specific bone lesions and an increased risk of malignant tumours. It is caused by a wide spectrum of mutations affecting the NF1 gene.
A, Klose, M R, Ahmadian, M, Schuelke, K, Scheffzek, S, Hoffmeyer, A, Gewies, F, Schmitz, D, Kaufmann, H, Peters, A, Wittinghofer, P, Nürnberg   +10 more
openaire   +2 more sources

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, Federica Natacci, Massimo Corbo, Luigi Pisani, Stefano Ferrero, Gaetano Bulfamante, Donatella Gambini   +6 more
doaj   +1 more source

A novel diagnostic method to detect truncated neurofibromin in neurofibromatosis 1 [PDF]

Journal of Neurochemistry, 2015
AbstractNeurofibromatosis type 1 (NF1) is an autosomal dominant genetic condition caused by dominant loss‐of‐function mutations of the tumor suppressor gene NF1 that encodes neurofibromin, a negative regulator of RAS activity. Mutation analysis of NF1 located at 17q11.2 has been hampered by the large size of the gene, the high rate of new mutations ...
Esposito T, PILUSO, Giulio, Saracino, D, Uccello, R, Schettino, C, Dato, C, Capaldo, G, Giugliano, T, VARRIALE, Bruno, PAOLISSO, Giuseppe, DI IORIO, Giuseppe, MELONE, Mariarosa Anna Beatrice   +11 more
openaire   +2 more sources

RAS and beyond: the many faces of the neurofibromatosis type 1 protein

Disease Models & Mechanisms, 2022
Neurofibromatosis type 1 is a rare neurogenetic syndrome, characterized by pigmentary abnormalities, learning and social deficits, and a predisposition for benign and malignant tumor formation caused by germline mutations in the NF1 gene.
Corina Anastasaki, Paola Orozco, David H. Gutmann   +2 more
doaj   +1 more source

Using antisense oligonucleotides for the physiological modulation of the alternative splicing of NF1 exon 23a during PC12 neuronal differentiation

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, Helena Mazuelas, Bernat Gel, Ernest Terribas, Gabrijela Dumbovic, Inma Rosas, Juana Fernández-Rodriguez, Ignacio Blanco, Elisabeth Castellanos, Meritxell Carrió, Conxi Lazaro, Eduard Serra   +11 more
doaj   +1 more source