Alzheimer–associated presenilins 1 and 2 : Neuronal expression in brain and localization to intracellular membranes in mammalian cells View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1996-02

AUTHORS

Dora M. Kovacs, Hillary J. Fausett, Keith J. Page, Tae-Wan Kim, Robert D. Moir, David E. Merriam, Richard D. Hollister, Olivia G. Hallmark, Ronald Mancini, Kevin M. Felsenstein, Bradley T. Hyman, Rudolph E. Tanzi, Wilma Wasco

ABSTRACT

Mutations in two recently identified genes appear to cause the majority of early–onset familial Alzheimer's disease (FAD). These two novel genes, presenilin 1 (PS1) and presenilin 2 (PS2) are members of an evolutionarily conserved gene family. The normal biological role(s) of the presenilins and the mechanism(s) by which the FAD–associated mutations exert their effect remain unknown. Employing in situ hybridization, we demonstrate that the expression patterns of PS1 and PS2 in the brain are extremely similar to each other and that messages for both are primarily detectable in neuronal populations. Immunochemical analyses indicate that PS1 and PS2 are similar in size and localized to similar intracellular compartments (endoplasmic reticulum and Golgi complex). FAD–associated mutations in PS1 and PS2 do not significantly modify either their migration patterns on SDS–polyacrylamide gel electrophoresis or their overall subcellular localization, although subtle differences in perinuclear staining were noted for mutant PS1. More... »

PAGES

224-229

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/nm0296-224

DOI

http://dx.doi.org/10.1038/nm0296-224

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1001947768

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/8574969


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65 migration patterns
66 mutant presenilin 1
67 mutations
68 neuronal expression
69 neuronal populations
70 novel genes
71 overall subcellular localization
72 patterns
73 perinuclear staining
74 population
75 presenilin
76 presenilin 1
77 presenilin 2
78 similar intracellular compartments
79 situ hybridization
80 size
81 staining
82 subcellular localization
83 subtle differences
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