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, Steven G Younkin, Karen Duff, John Hardy, Mike Hutton

Research output: Contribution to journalArticle

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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 languageEnglish (US)
Pages (from-to)256-258
Number of pages3
JournalAnnals of Neurology
Volume43
Issue number2
DOIs
StatePublished - Feb 1998

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Presenilin-1
Cell Line
Mutation
Amyloid beta-Protein Precursor
Chromosomes, Human, Pair 14
Age of Onset
Exons
Alzheimer Disease
Complementary DNA
Genes

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Mehta, N. D., Refolo, L. M., Eckman, C., Sanders, S., Yager, D., Perez-Tur, J., ... Hutton, M. (1998). Increased Aβ42(43) from cell lines expressing presenilin 1 mutations. Annals of Neurology, 43(2), 256-258. https://doi.org/10.1002/ana.410430217

Increased Aβ42(43) from cell lines expressing presenilin 1 mutations. / Mehta, Nitin D.; Refolo, Lawrence M.; Eckman, Chris; Sanders, Sunny; Yager, Debra; Perez-Tur, Jordi; Younkin, Steven G; Duff, Karen; Hardy, John; Hutton, Mike.

In: Annals of Neurology, Vol. 43, No. 2, 02.1998, p. 256-258.

Research output: Contribution to journalArticle

Mehta, ND, Refolo, LM, Eckman, C, Sanders, S, Yager, D, Perez-Tur, J, Younkin, SG, Duff, K, Hardy, J & Hutton, M 1998, 'Increased Aβ42(43) from cell lines expressing presenilin 1 mutations', Annals of Neurology, vol. 43, no. 2, pp. 256-258. https://doi.org/10.1002/ana.410430217
Mehta ND, Refolo LM, Eckman C, Sanders S, Yager D, Perez-Tur J et al. Increased Aβ42(43) from cell lines expressing presenilin 1 mutations. Annals of Neurology. 1998 Feb;43(2):256-258. https://doi.org/10.1002/ana.410430217
Mehta, Nitin D. ; Refolo, Lawrence M. ; Eckman, Chris ; Sanders, Sunny ; Yager, Debra ; Perez-Tur, Jordi ; Younkin, Steven G ; Duff, Karen ; Hardy, John ; Hutton, Mike. / Increased Aβ42(43) from cell lines expressing presenilin 1 mutations. In: Annals of Neurology. 1998 ; Vol. 43, No. 2. pp. 256-258.
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