rs113994087
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0.100 |
GeneticVariation |
BEFREE |
The most frequent ALK mutations in neuroblastoma cause amino acid substitutions (F1174L and R1275Q) in the intracellular tyrosine kinase domain of the intact ALK receptor.
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22072639 |
2011 |
rs113994087
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0.100 |
GeneticVariation |
BEFREE |
We detected the ALK mutation (F1174C and R1275Q) in 2 (3.7%) of the 54 NB specimens.
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21940108 |
2011 |
rs113994087
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0.100 |
GeneticVariation |
BEFREE |
Using both Sanger and targeted deep sequencing, this study describes the identification of distinct ALK mutations in these paired cell lines, including the rare R1275L mutation, which has not previously been reported in a neuroblastoma cell line.
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27888620 |
2016 |
rs113994087
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0.100 |
GeneticVariation |
BEFREE |
The two most frequent mutations, ALK-F1174L and ALK-R1275Q, contribute to NB tumorigenesis in mouse models, and cooperate with MYCN in the oncogenic process.
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24947326 |
2014 |
rs113994087
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0.100 |
GeneticVariation |
BEFREE |
To study the contribution of ALK mutations in NB initiation and progression, we reprogrammed fibroblasts from two related NB patients carrying germline mutations in ALK (R1275Q) using non-integrating Sendai virus.
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30605844 |
2019 |
rs113994087
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0.100 |
GeneticVariation |
BEFREE |
The R1275Q neuroblastoma mutant and certain ATP-competitive inhibitors stabilize alternative activation loop conformations of anaplastic lymphoma kinase.
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22932897 |
2012 |
rs113994087
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0.100 |
GeneticVariation |
BEFREE |
Herein, we have illustrated the dynamic conformational property of wild-type ALK as well as the kinase activation equilibrium variation induced by two neuroblastoma mutations (R1275Q and Y1278S) and ATP binding by performing enhanced sampling accelerated Molecular Dynamics (aMD) simulations.
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29638111 |
2018 |
rs113994087
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0.100 |
GeneticVariation |
BEFREE |
Combined treatment with alectinib and vorinostat might be a novel therapeutic option for NB harboring the ALK R1275Q mutation.
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31262882 |
2019 |
rs113994087
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0.100 |
GeneticVariation |
BEFREE |
Accordingly, the combination of the ALK/MET inhibitor crizotinib and selective HDAC8 inhibitors (3-6 µM PCI-34051 or 10 µM 20a) efficiently killed neuroblastoma cell lines carrying wildtype ALK (SK-N-BE(2)-C, IMR5/75), amplified ALK (NB-1), and those carrying the activating ALK F1174L mutation (Kelly), and, in cells carrying the activating R1275Q mutation (LAN-5), combination treatment decreased viable cell count.
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29515255 |
2018 |
rs113994087
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0.100 |
GeneticVariation |
BEFREE |
A 77-gene ALK signature was established and successfully validated in primary neuroblastoma samples, in a neuroblastoma cell line with ALK(F1174L) and ALK(R1275Q) regulable overexpression constructs and in other ALKomas.
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25805801 |
2015 |
rs121912438
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0.100 |
GeneticVariation |
BEFREE |
In order to investigate the effect of various calcium modulators and the SOD-1 mutation on neuronal death, we tested motoneuron-neuroblastoma hybrid (VSC 4.1) cells constitutively expressing human SOD-1 gene with mutations (A4V, G93A) or wild-type.
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12151755 |
2002 |
rs121912438
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0.100 |
GeneticVariation |
BEFREE |
These effects are consequent to activation of inflammatory processes in G93A-glioblastoma cells stimulated by cocultured G93A-neuroblastoma.
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15208263 |
2004 |
rs121912438
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0.100 |
GeneticVariation |
BEFREE |
To characterize the cellular response to mitochondrial perturbations at the level of gene expression and alternative pre-mRNA splicing we used splicing-sensitive microarrays to profile human neuroblastoma SH-SY5Y cells treated with paraquat, a neurotoxic herbicide that induces the formation of reactive oxygen species and causes mitochondrial damage in animal models, and SH-SY5Y cells stably expressing the mutant G93A-SOD1 protein, one of the genetic causes of ALS.
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21120952 |
2011 |
rs121912438
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0.100 |
GeneticVariation |
BEFREE |
We detected this interaction both in spinal cord extracts of mutant SOD1(G93A) transgenic mice and in cultured neuroblastoma cells.
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17403032 |
2007 |
rs121912438
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0.100 |
GeneticVariation |
BEFREE |
Impairment of nuclear factor-kappaB activation increased glutamate excitotoxicity in a motoneuron-neuroblastoma hybrid cell line expressing mutant (G93A) Cu/Zn-superoxide dismutase.
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20623531 |
2010 |
rs121912438
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0.100 |
GeneticVariation |
BEFREE |
We have set up a model system for familial amyotrophic lateral sclerosis (FALS) by transfecting human neuroblastoma cell line SH-SY5Y with plasmids directing constitutive expression of either wild-type human Cu,Zn superoxide dismutase (Cu,ZnSOD) or a mutant of this enzyme (G93A) associated with FALS.
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9315720 |
1997 |
rs121912438
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0.100 |
GeneticVariation |
BEFREE |
In order to investigate the basis of the tissue specificity of mutant SOD1 we compared the effect of the continuous expression of wild-type or mutant (G93A) human SOD1 on mitochondrial morphology in the NSC-34 motoneuronal-like, the N18TG2 neuroblastoma and the non-neuronal Madin-Darby Canine Kidney (MDCK) cell lines.
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16903849 |
2006 |
rs121912438
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0.100 |
GeneticVariation |
BEFREE |
Treatment of G93A-SOD</span>1 SH-SY5Y neuroblastoma cells with the antioxidant N-acetylcysteine reduced the toxicity of pneumolysin.
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17997855 |
2007 |
rs121912438
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0.100 |
GeneticVariation |
BEFREE |
We have recently observed that calcineurin activity is depressed in human neuroblastoma cells expressing Cu,Zn superoxide dismutase (SOD1) mutant G93A and in brain areas from G93A transgenic mice, and that mutant G93A-SOD1 oxidatively inactivates calcineurin in vitro.
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12437573 |
2002 |
rs121912438
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0.100 |
GeneticVariation |
BEFREE |
Human neuroblastoma SH-SY5Y cells transfected with either familial amyotrophic lateral sclerosis-typical G93A mutant or wild-type copper/zinc superoxide dismutase were compared to untransfected cells in term of glutamate transport.
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15670639 |
2005 |
rs121912438
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0.100 |
GeneticVariation |
BEFREE |
We observed an increased total iron content in G93A-SOD1 SH-SY5Y neuroblastoma cells compared to wild-type (WT)-SOD1 cells. mRNA expression for transferrin receptor 1 (TfR1) and divalent metal transporter 1 was increased in G93A-SOD1 cells, which was in accordance with higher iron uptake.
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23178912 |
2013 |
rs121912438
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0.100 |
GeneticVariation |
BEFREE |
We report that the expression of mutant G93A copper/zinc superoxide dismutase (SOD1), associated with familial amyotrophic lateral sclerosis, specifically causes a decrease in MTT reduction rate and ATP levels and an increase in both cytosolic and mitochondrial reactive oxygen species (ROS) production in human neuroblastoma SH-SY5Y cells compared to cells overexpressing wild-type SOD1 and untransfected cells.
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12901835 |
2003 |
rs121912438
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0.100 |
GeneticVariation |
BEFREE |
Overexpression of a familial mutant form of superoxide dismutase 1 (SOD1) (G93A) in neuroblastoma cells resulted in a similar reduction of IGF-1Rβ protein.
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22875931 |
2012 |
rs121912438
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0.100 |
GeneticVariation |
BEFREE |
To understand better the role of these mutations in the pathophysiology of FALS we have compared the pattern of proteins expressed in human neuroblastoma SH-SY5Y cell line with those of cell lines transfected with plasmids expressing the wild-type human SOD1 and the H46R and G93A mutants.
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17979159 |
2007 |
rs281864719
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0.100 |
GeneticVariation |
BEFREE |
However, lethal neuroblastoma</span> frequently developed in mice co-expressing ALK F1174L and MYCN, even in a genetic background where MYCN alone does not cause overt tumors.
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31218818 |
2019 |