Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750306
rs63750306
0.050 GeneticVariation 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

dbSNP: rs63750306
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

dbSNP: rs63750306
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

dbSNP: rs63750306
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

dbSNP: rs63750306
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

dbSNP: rs63749805
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

dbSNP: rs63749805
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

dbSNP: rs63749805
rs63749805
0.030 GeneticVariation BEFREE Human kidney 293 and mouse neuroblastoma N2a cells were stably transfected with wild-type and PS1 P117L. 9507958

1998

dbSNP: rs63751163
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

dbSNP: rs63751163
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

dbSNP: rs1362575880
rs1362575880
0.010 GeneticVariation 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

dbSNP: rs63750852
rs63750852
0.010 GeneticVariation BEFREE Chinese Presenilin-1 V97L mutation enhanced Abeta42 levels in SH-SY5Y neuroblastoma cells. 16916581

2006

dbSNP: rs63751235
rs63751235
0.010 GeneticVariation 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

dbSNP: rs63750646
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