PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0700095
Disease: Central neuroblastoma
Central 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
CUI: C0700095
Disease: Central neuroblastoma
Central 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
CUI: C0700095
Disease: Central neuroblastoma
Central 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