|
Childhood Neuroblastoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The effects of these two mutations on presenilin-1 endoproteolysis and β-amyloid (Aβ) production were examined in SH-SY5Y neuroblastoma cells infected with lentiviruses expressing presenilin-1 wild type (WT), I249L and P433S mutants.
|
31235249 |
2019 |
|
Childhood Neuroblastoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Here, we report that the expression of FAD-linked PS1 M146V mutant affects store-operated calcium channel activity (Isoc) in human neuroblastoma SK-N-SH cells.
|
23624206 |
2013 |
|
Childhood Neuroblastoma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
In this study, we found that the expression of mutant-PS1 in stable transfectants of SH-SY5Y neuroblastoma cells results in a reduction of the biosynthesis and steady-state levels of glucosylceramide.
|
22508690 |
2012 |
|
Childhood Neuroblastoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
This potential for a direct protein-protein interaction between PS-1 and MAO-A is not specific for HT-22 cells as we were also able to co-immunoprecipitate MAO-A with FLAG-PS-1 variants in N2a mouse neuroblastoma cells and in HEK293 human embryonic kidney cells.
|
21373759 |
2011 |
|
Childhood Neuroblastoma
|
0.100 |
PosttranslationalModification
|
disease |
BEFREE |
Aim of present study was to analyze the methylation pattern of PSEN1 promoter in SK-N-BE neuroblastoma cells and TgCRND8 mice, in a B vitamin (folate, B12 and B6) deficiency paradigm.
|
19329227 |
2011 |
|
Childhood Neuroblastoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Tunicamycin treatment caused a doubling of PSEN1 holoprotein production in HEK293 cells and an increase in holoprotein production to approximately 180% in GOTO human neuroblastoma and KNS-42 human glioma cell lines, without changing the amounts of PSEN1 N- or C-terminal fragments.
|
20164584 |
2010 |
|
Childhood Neuroblastoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The human neuroblastoma SH-SY5Y cells stably transfected with these two Chinese presenilin 1 mutations were established to explore whether they are sensitive to, or influenced by, serum deprivation and protected by insulin-like growth factor-1 (IGF-1).
|
18706205 |
2008 |
|
Childhood Neuroblastoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
To verify whether this mutation is pathologically functional, we established mutation type and wild type Presenilin-1 gene stably transfected cell lines (human neuroblastoma SH-SY5Y cells) to detect beta-amyloid (Abeta) concentrations using ELISA and radioimmunity methods.
|
16916581 |
2006 |
|
Childhood Neuroblastoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Morphological change by overexpression of D385A dominant negative presenilin 1 in human neuroblastoma SH-SY5Y cells.
|
17099291 |
2006 |
|
Childhood Neuroblastoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
The abundance of mRNA transcripts for presenilin 1 and 2 (PS1 and PS2), APP, and nicastrin were evaluated in neuroblastoma cells exposed either to serum-depleted medium or to low-density lipoproteins (LDL).
|
17401156 |
2006 |
|
Childhood Neuroblastoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
We report here the molecular influences of the overexpression of PS1 protein by stable transfection of PS1 cDNA into SH-SY5Y neuroblastoma cells on the function of high affinity nerve growth factor receptor, Trk, that is essential for neuronal survival and differentiation.
|
15950763 |
2005 |
|
Childhood Neuroblastoma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
We show that in vitro translated ER81 indeed binds specifically to the -10 region of the PS1 promoter and that ER81 activates by two- to threefold the basal transcription of a presenilin-1 promoter-chloramphenicol acetyltransferase reporter synthetic gene (-119, +178)PS1CAT in transient infection assays in neuroblastoma cells (SK-N-SH).
|
12750007 |
2003 |
|
Childhood Neuroblastoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
The over-expression of the wild type or mutant forms of the presenilin-1 protein alters glycoprotein processing in a human neuroblastoma cell line.
|
12850546 |
2003 |
|
Childhood Neuroblastoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In the present study, we examined intracellular Ca(2+) stores coupled to muscarinic receptors and capacitative Ca(2+) entry (CCE) in the human neuroblastoma SH-SY5Y cell line, and how these were modulated by over-expression of either wild-type presenilin 1 (PS1wt) or a mutant form of presenilin 1 (PS1 deltaE9) which predisposes to early-onset Alzheimer's disease.
|
12213305 |
2002 |
|
Childhood Neuroblastoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Presenilin-1 mutations alter K+ currents in the human neuroblastoma cell line, SH-SY5Y.
|
12218704 |
2002 |
|
Childhood Neuroblastoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Caspase cleavage of exon 9 deleted presenilin-1 is an early event in apoptosis induced by calcium ionophore A 23187 in SH-SY5Y neuroblastoma cells.
|
11599009 |
2001 |
|
Childhood Neuroblastoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To elucidate the role of presenilin-1 in the Alzheimer's disease pathology, we tested two such mutations (P117L and M146L) for their effect in stably transfected mouse neuroblastoma cell lines.
|
11311782 |
2001 |
|
Childhood Neuroblastoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This study examined the effects of overexpression of presenilin-1 wild-type (PS1wt) or mutant L286V (PS1m) in human neuroblastoma SH-SY5Y cells on signal transduction systems.
|
11382407 |
2001 |
|
Childhood Neuroblastoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We showed previously that PS1 exon 9 deletion (PS1 DeltaE9) and L250S mutations predispose SH-SY5Y neuroblastoma cells to high glucose stress-induced apoptosis and that the anti-apoptotic effect of insulin-like growth factor I (IGF-I) is compromised by these mutations.
|
11746362 |
2001 |
|
Childhood Neuroblastoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
For this, we established SH-SY5Y neuroblastoma cell lines stably transfected with wild-type PS1 or either the PS1 exon 9 deletion (deltaE9) or PS1 L250S mutants.
|
10658639 |
2000 |
|
Childhood Neuroblastoma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Analysis of the mutant and wild-type-280 variants using luciferase reporter gene expression in transiently transfected neuroblastoma cells showed a 30% decrease in transcriptional activity for the mutant-280G PSEN1 promoter variant compared with the wild-type variant-280C.
|
10655540 |
2000 |
|
Childhood Neuroblastoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In the present study, we examined the effect of PSEN1 1143T and G384A mutations on tau phosphorylation in human SH-SY5Y and mouse Neuro-2a neuroblastoma cell lines that were transiently transfected with wild type (WT) or mutant PSEN1.
|
10430510 |
1999 |
|
Childhood Neuroblastoma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Interestingly, the expression of presenilin-1 in human U87 MG astrocytoma and human SK-N-SH neuroblastoma cells is only increased when cells are treated with glial cell line-derived neurotrophic factor or transforming growth factor-beta3.
|
10473269 |
1999 |
|
Childhood Neuroblastoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To investigate the pathogenic mechanism of PS1 mutations linked to FAD, we established inducible mouse neuroblastoma (Neuro 2a) cell lines expressing the human wild-type (wt) or mutated PS1(M146L or deltaexon 10) under the control of the Lac repressor.
|
10360683 |
1999 |
|
Childhood Neuroblastoma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Overexpression of GRP78 in neuroblastoma cells bearing PS1 mutants almost completely restores resistance to ER stress to the level of cells expressing wild-type PS1.
|
10587643 |
1999 |