Results 181 to 190 of about 26,229 (202)
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Neurofibromin: a general outlook
Clinical Genetics, 2006Neurofibromin is a cytoplasmic protein that is predominantly expressed in neurons, Schwann cells, oligodendrocytes, astrocytes and leukocytes. It is encoded by the gene NF1, located on chromosome 17, at q11.2, and has different biochemical functions, including association to microtubules and participation in several signaling pathways.
Trovo-Marqui, A. B., Tajara, E. H.
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Neurofibromin in Skeletal Development
2015Skeletal complications are frequent in neurofibromatosis type 1 (NF1). Various skeletal manifestations are observed including generalized osteopenia (low bone mass), scoliosis, long bone bowing, pseudarthrosis, bone lytic lesions, and sphenoid wing dysplasia.
Mateusz Kolanczyk, David A. Stevenson
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Neurofibromin Colocalizes with Mitochondria in Cultured Cells
Experimental Cell Research, 1997Mutations in neurofibromatosis type 1 target the gene coding for neurofibromin. While neurofibromin is able to accelerate the rate of GTP hydrolysis by cellular Ras proteins, its biological function is not well understood. To gain information regarding its function, the intracellular localization of neurofibromin was analyzed in cultured cell lines ...
M, Roudebush +5 more
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The Mechanism of Ras GTPase Activation by Neurofibromin
Biochemistry, 2003Individual rate constants have been determined for each step of the Ras.GTP hydrolysis mechanism, activated by neurofibromin. Fluorescence intensity and anisotropy stopped-flow measurements used the fluorescent GTP analogue, mantGTP (2'(3')-O-(N-methylanthraniloyl)GTP), to determine rate constants for binding and release of neurofibromin. Quenched flow
Phillips, Robert A. +3 more
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1995
Abstract ProteinNeurofibromin is a protein of 2818 amino acids with several splicing variants {Gutmann and Collins 1993). The best characterized consists of an extra 21 amino acids inserted in the GTPase-activating protein {GAP)-related domain {Anderson et al. 1993; Mochizuki et al. 1992; Uchida et al. 1992).
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Abstract ProteinNeurofibromin is a protein of 2818 amino acids with several splicing variants {Gutmann and Collins 1993). The best characterized consists of an extra 21 amino acids inserted in the GTPase-activating protein {GAP)-related domain {Anderson et al. 1993; Mochizuki et al. 1992; Uchida et al. 1992).
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Structure and Function of Neurofibromin
2008The NF1 gene encodes the giant protein neurofibromin (320 kDa), whose activity is impaired in patients with neurofibromatosis type 1 (NF1).
S. Welti, I. D’Angelo, K. Scheffzek
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Neurofibromin progress on the fly
Nature, 2000The genetic disease neurofibromatosis type 1 causes tumours and, in some cases, learning difficulties. The disease is caused by a mutation in the gene for a protein called neurofibromin, which is involved in the control of cell division. Results in fruitflies that lack the protein suggest that the learning disabilities of patients may result from a ...
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Neurofibromin regulates G protein–stimulated adenylyl cyclase activity
Nature Neuroscience, 2002Neurofibromatosis type 1 (NF1) is a dominant genetic disorder characterized by multiple benign and malignant nervous system tumors, and by learning defects in 45% of children with NF1 mutations. Studies of neurofibromin, the protein encoded by NF1, have focused on its functions in tumorigenesis and regulation of Ras activity; however, Drosophila NF1 ...
Jiayuan, Tong +4 more
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Activation of the Tyrosinase Gene Promoter by Neurofibromin
Biochemical and Biophysical Research Communications, 1994Neurofibromatosis type 1 (NF1) is a hereditary cancer syndrome, characterized by café-au-lait skin spots and multiple neurofibromas. A gene linked to NF1 encodes neurofibromin, an established function of which is to stimulate intrinsic GTPase activity of ras protein. By transiently coexpressing a neurofibromin cDNA in a melanoma cell line, we show that
H, Suzuki +3 more
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Neurofibromin and Neuronal Apoptosis
2003Abstract : Our purpose is to examine the role of neurofibromin in modulating the survival of embryonic sensory and sympathetic neurons. To understand how reduced neurofibromin levels might impact the survival responses to activity-mediated signaling (mimicked with KCl) and to neurotrophins, we used dissociated cultures of Nf1+/- and exon23a-/- sensory ...
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