Increased Aβ42(43) from cell lines expressing presenilin 1 mutations

Nitin D. Mehta; Lawrence M. Refolo; Chris Eckman; Sunny Sanders; Debra Yager; Jordi Perez-Tur; Steve Younkin; Karen Duff; John Hardy; Mike Hutton

doi:10.1002/ana.410430217

Increased Aβ42(43) from cell lines expressing presenilin 1 mutations

Nitin D. Mehta, Lawrence M. Refolo, Chris Eckman, Sunny Sanders, Debra Yager, Jordi Perez-Tur, Steve Younkin, Karen Duff, John Hardy, Mike Hutton

Neuroscience

Research output: Contribution to journal › Article › peer-review

90 Scopus citations

Abstract

Mutations in the presenilln 1 (PS1) gene on chromosome 14 are a major cause of autosomal dominant, early-onset Alzheimer's disease. Here, we show that transfecting cells with several mutant, but not wild-type, PS1 cDNAs alters the processing of the amyloid precursor protein (APP) such that more Aβ42(43) is produced, confirming and extending several recent reports. The most effective mutation in this regard was the exon 9 splice-out mutation (Δ9). The correlation between the size of the effect on APP processing and the age of onset of disease assessed in families with the mutations was not informative, and the possible reasons for this are discussed.

Original language	English (US)
Pages (from-to)	256-258
Number of pages	3
Journal	Annals of neurology
Volume	43
Issue number	2
DOIs	https://doi.org/10.1002/ana.410430217
State	Published - Feb 1998

ASJC Scopus subject areas

Neurology
Clinical Neurology

Access to Document

10.1002/ana.410430217

Cite this

@article{ae79da6de3dd43828fe54408cb8405d4,

title = "Increased Aβ42(43) from cell lines expressing presenilin 1 mutations",

abstract = "Mutations in the presenilln 1 (PS1) gene on chromosome 14 are a major cause of autosomal dominant, early-onset Alzheimer's disease. Here, we show that transfecting cells with several mutant, but not wild-type, PS1 cDNAs alters the processing of the amyloid precursor protein (APP) such that more Aβ42(43) is produced, confirming and extending several recent reports. The most effective mutation in this regard was the exon 9 splice-out mutation (Δ9). The correlation between the size of the effect on APP processing and the age of onset of disease assessed in families with the mutations was not informative, and the possible reasons for this are discussed.",

author = "Mehta, {Nitin D.} and Refolo, {Lawrence M.} and Chris Eckman and Sunny Sanders and Debra Yager and Jordi Perez-Tur and Steve Younkin and Karen Duff and John Hardy and Mike Hutton",

year = "1998",

month = feb,

doi = "10.1002/ana.410430217",

language = "English (US)",

volume = "43",

pages = "256--258",

journal = "Annals of neurology",

issn = "0364-5134",

publisher = "John Wiley and Sons Inc.",

number = "2",

}

TY - JOUR

T1 - Increased Aβ42(43) from cell lines expressing presenilin 1 mutations

AU - Mehta, Nitin D.

AU - Refolo, Lawrence M.

AU - Eckman, Chris

AU - Sanders, Sunny

AU - Yager, Debra

AU - Perez-Tur, Jordi

AU - Younkin, Steve

AU - Duff, Karen

AU - Hardy, John

AU - Hutton, Mike

PY - 1998/2

Y1 - 1998/2

N2 - Mutations in the presenilln 1 (PS1) gene on chromosome 14 are a major cause of autosomal dominant, early-onset Alzheimer's disease. Here, we show that transfecting cells with several mutant, but not wild-type, PS1 cDNAs alters the processing of the amyloid precursor protein (APP) such that more Aβ42(43) is produced, confirming and extending several recent reports. The most effective mutation in this regard was the exon 9 splice-out mutation (Δ9). The correlation between the size of the effect on APP processing and the age of onset of disease assessed in families with the mutations was not informative, and the possible reasons for this are discussed.

AB - Mutations in the presenilln 1 (PS1) gene on chromosome 14 are a major cause of autosomal dominant, early-onset Alzheimer's disease. Here, we show that transfecting cells with several mutant, but not wild-type, PS1 cDNAs alters the processing of the amyloid precursor protein (APP) such that more Aβ42(43) is produced, confirming and extending several recent reports. The most effective mutation in this regard was the exon 9 splice-out mutation (Δ9). The correlation between the size of the effect on APP processing and the age of onset of disease assessed in families with the mutations was not informative, and the possible reasons for this are discussed.

UR - http://www.scopus.com/inward/record.url?scp=0031594142&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0031594142&partnerID=8YFLogxK

U2 - 10.1002/ana.410430217

DO - 10.1002/ana.410430217

M3 - Article

C2 - 9485068

AN - SCOPUS:0031594142

SN - 0364-5134

VL - 43

SP - 256

EP - 258

JO - Annals of neurology

JF - Annals of neurology

IS - 2

ER -

Increased Aβ42(43) from cell lines expressing presenilin 1 mutations

Abstract

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this