rs121917887
|
|
|
0.080 |
GeneticVariation |
BEFREE |
A similar ser120-gly mutation in NME1 has been found in human neuroblastoma, suggesting that mutation in this region may be a general phenomenon related to tumor progression.
|
7794272 |
1995 |
rs201216664
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A similar ser120-gly mutation in NME1 has been found in human neuroblastoma, suggesting that mutation in this region may be a general phenomenon related to tumor progression.
|
7794272 |
1995 |
rs121912438
|
|
|
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.
|
9315720 |
1997 |
rs74315406
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We developed a cell model of Gerstmann-Sträussler-Scheinker disease, a neurodegenerative condition characterized by PrPM-containing amyloid deposits and neuronal loss, by expressing the Gerstmann-Sträussler-Scheinker haplotype Q217R-129V in human neuroblastoma cells.
|
9353306 |
1997 |
rs1231783932
|
|
|
0.010 |
GeneticVariation |
BEFREE |
COS-1 cells doubly transfected with cDNAs for N141I mutant PS2 and human beta-amyloid precursor protein (betaAPP) or a C-terminal fragment thereof, as well as mouse Neuro2a neuroblastoma cells stably transfected with N141I mutant PS2 alone, secreted 1.5- to 10-fold more A beta ending at residues 42 (or 43) [A beta42(43)] compared with those expressing the wild-type PS2.
|
9050898 |
1997 |
rs63750215
|
|
|
0.010 |
GeneticVariation |
BEFREE |
COS-1 cells doubly transfected with cDNAs for N141I mutant PS2 and human beta-amyloid precursor protein (betaAPP) or a C-terminal fragment thereof, as well as mouse Neuro2a neuroblastoma cells stably transfected with N141I mutant PS2 alone, secreted 1.5- to 10-fold more A beta ending at residues 42 (or 43) [A beta42(43)] compared with those expressing the wild-type PS2.
|
9050898 |
1997 |
rs63750306
|
|
|
0.050 |
GeneticVariation |
BEFREE |
The influence of PS1 mutations on the generation of endogenous intracellular amyloid beta-protein (A beta) species was assessed using a highly sensitive immunoblotting technique with inducible mouse neuroblastoma (Neuro 2a) cell lines expressing the human wild-type (wt) or mutated PS1 (M146L or delta exon 10).
|
9751187 |
1998 |
rs63749805
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Human kidney 293 and mouse neuroblastoma N2a cells were stably transfected with wild-type and PS1 P117L.
|
9507958 |
1998 |
rs1211164799
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The influence of PS1 mutations on the generation of endogenous intracellular amyloid beta-protein (A beta) species was assessed using a highly sensitive immunoblotting technique with inducible mouse neuroblastoma (Neuro 2a) cell lines expressing the human wild-type (wt) or mutated PS1 (M146L or delta exon 10).
|
9751187 |
1998 |
rs121917887
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Moreover, like the Killer-of-prune mutation in Drosophila NDK and the neuroblastoma Ser120 --> Gly mutation in human NDK-A/Nm23-H1, the Ser122 --> Pro substitution in NDK-B affects the stability of the protein toward heat and urea.
|
10400630 |
1999 |
rs63750306
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Two (P117L; M146L) familial Alzheimer's disease (FAD)-causing presenilin-1 (PS1) mutations have been tested fortheir effect in stably transfected mouse neuroblastoma (N2a) cell lines.
|
10400232 |
1999 |
rs63750306
|
|
|
0.050 |
GeneticVariation |
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 |
rs121912443
|
|
|
0.030 |
GeneticVariation |
BEFREE |
We have investigated the response to oxidative stress in a model system obtained by stable transfection of the human neuroblastoma cell line SH-SY5Y with plasmids directing constitutive expression of either wild-type human Cu,Zn superoxide dismutase or a mutant of this enzyme (H46R) associated with familial amyotrophic lateral sclerosis.
|
10461909 |
1999 |
rs63749805
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Two (P117L; M146L) familial Alzheimer's disease (FAD)-causing presenilin-1 (PS1) mutations have been tested fortheir effect in stably transfected mouse neuroblastoma (N2a) cell lines.
|
10400232 |
1999 |
rs201216664
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Moreover, like the Killer-of-prune mutation in Drosophila NDK and the neuroblastoma Ser120 --> Gly mutation in human NDK-A/Nm23-H1, the Ser122 --> Pro substitution in NDK-B affects the stability of the protein toward heat and urea.
|
10400630 |
1999 |
rs63750646
|
|
|
0.010 |
GeneticVariation |
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 |
rs74315407
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We have established stably transfected human neuroblastoma cells (SH-SY5Y) expressing mutant V210I, or wild-type PrPc.
|
10454141 |
1999 |
rs63751163
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Alzheimer's disease presenilin-1 exon 9 deletion and L250S mutations sensitize SH-SY5Y neuroblastoma cells to hyperosmotic stress-induced apoptosis.
|
10658639 |
2000 |
rs74315406
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We have examined the role of molecular chaperones in the folding of normal and mutant PrP Q217R (PrP(217)) in transfected neuroblastoma cells.
|
10970892 |
2000 |
rs121917887
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Prune protein interacts with the metastasis suppressor nm23-H1, but shows impaired affinity towards the nm23-H1 S120G mutant associated with advanced neuroblastoma.
|
11687967 |
2001 |
rs63750306
|
|
|
0.050 |
GeneticVariation |
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 |
rs63749805
|
|
|
0.030 |
GeneticVariation |
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 |
rs63751163
|
|
|
0.020 |
GeneticVariation |
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 |
rs1273925499
|
|
|
0.010 |
GeneticVariation |
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 |
rs28933385
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To investigate whether the E200K mutation is enough to de novo confer PrP(Sc) properties to mutant PrP, as suggested by experiments in Chinese hamster ovary cells, we examined the biochemical behavior of E200KPrP in brains and fibroblasts from sporadic as well as homozygous and heterozygous E200KCJD patients, asymptomatic transgenic mice carrying the E200K mutation, as well as in normal and scrapie-infected mouse neuroblastoma cells expressing E200KPrP.
|
11259483 |
2001 |