Results 181 to 190 of about 26,437 (217)

Activation of the Tyrosinase Gene Promoter by Neurofibromin

Biochemical and Biophysical Research Communications, 1994
Neurofibromatosis 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, K, Takahashi, K, Yasumoto, S, Shibahara   +3 more
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Structure and Function of Neurofibromin

2008
The 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, 2000
The 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 Colocalizes with Mitochondria in Cultured Cells

Experimental Cell Research, 1997
Mutations 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, T, Slabe, V, Sundaram, C L, Hoppel, M, Golubic, D W, Stacey   +5 more
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Neurofibromin

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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Neurofibromin and its inactivation of Ras are prerequisites for osteoblast functioning

Bone, 2005
Skeletal problems and osteoporosis occur in up to 50% affected neurofibromatosis type 1 (NF1) humans. Inactivation of neurofibromin results in deregulation of Ras signal transduction. Little is known of bone biology in humans with NF1. The goal of our work was to determine if loss-of-function of Nf1 gene was associated with altered bone homeostasis and
X, Yu, S, Chen, O L, Potter, S M, Murthy, J, Li, J M, Pulcini, N, Ohashi, T, Winata, E T, Everett, D, Ingram, W D, Clapp, J M, Hock   +11 more
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Loss of Neurofibromin in the Leptomeningeal Astroglial Heterotopia of NF-1

Pediatric Neurology, 1998
Neurofibromin, the protein product of the neurofibromatosis type 1 (NF-1) gene, has important roles in tumor suppression or normal embryogenesis. Cerebellar leptomeningeal astroglial heterotopia (LAH) is a proliferation of heterotopic astroglial cells and fibers in the cerebellar leptomeninges, which is characteristically demonstrated in the NF-1 ...
M, Kato, M, Mizuguchi, S, Hattori, S, Nakamura, S, Takashima   +4 more
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Neurofibromin-deficient fibroblasts fail to form perineurium in vitro

Development, 1995
ABSTRACT To identify cell type(s) that might contribute to nerve sheath tumors (neurofibromas) in patients with neurofibromatosis type 1, we generated cell cultures containing neurons, Schwann cells and fibroblasts from transgenic mouse embryos in which the type 1 neurofibromatosis gene was disrupted by homologous recombination (Brannan ...
T, Rosenbaum, Y L, Boissy, K, Kombrinck, C I, Brannan, N A, Jenkins, N G, Copeland, N, Ratner   +6 more
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Neurofibromin in the brain.

Journal of child neurology, 2003
Neurofibromatosis 1 is one of the most common autosomal dominant disorders affecting the nervous system. Individuals with neurofibromatosis 1 present with abnormalities of both astrocytes and neurons that result from reduced or absent expression of the NF1 gene product neurofibromin.
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Neurofibromin and Neuronal Apoptosis

2003
Abstract : 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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