title: Proteolytic processing of presenilin-1 in human lymphoblasts is not affected by the presence of the I143T and G384A mutations.
abstract: Presenilin-1 (PSEN1) mutations I143T and G384A give rise to severe early onset Alzheimers's disease in two extensively studied Belgian families, AD/A and AD/B. In this study we investigated the influence of the I143T and G384A mutations on PSEN1 proteolytic processing. Hereto we analyzed PSEN1 processing in lymphoblasts by immunodetection with PSEN1-specific antibodies and densitometric analysis of the immunoreactive banding pattern. No differences were observed between presymptomatic mutation carriers, patients or escapees, demonstrating that the PSEN1 mutations I143T and G384A do not alter PSEN1 proteolytic processing in lymphoblasts.
authors.affiliation: Flanders Interuniversity Institute for Biotechnology, Department of Biochemistry, University of Antwerp, Belgium.
authors.forename: I
authors.initials: I
authors.lastname: Vanderhoeven
authors.forename: P
authors.initials: P
authors.lastname: Cras
authors.forename: J J
authors.initials: JJ
authors.lastname: Martin
authors.forename: C
authors.initials: C
authors.lastname: Van Broeckhoven
authors.forename: C
authors.initials: C
authors.lastname: De Jonghe
mesh_terms: D000544:Alzheimer Disease / Q000235:genetics* / Q000378:metabolism; D001530:Belgium; D002462:Cell Membrane / Q000737:chemistry; D005192:Family Health; D006579:Heterozygote; D006801:Humans; D008214:Lymphocytes / Q000378:metabolism*; D008565:Membrane Proteins / Q000032:analysis / Q000235:genetics* / Q000378:metabolism*; D010641:Phenotype; D017354:Point Mutation; D053764:Presenilin-1; D013347:Subcellular Fractions / Q000737:chemistry
chemical_list: D008565:Membrane Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1