2006
DOI: 10.1111/j.1471-4159.2005.03578.x
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Presenilin clinical mutations can affect γ‐secretase activity by different mechanisms

Abstract: Mutations in human presenilin (PS) genes cause aggressive forms of familial Alzheimer's disease. Presenilins are polytopic proteins that harbour the catalytic site of the c-secretase complex and cleave many type I transmembrane proteins including b-amyloid precursor protein (APP), Notch and syndecan 3. Contradictory results have been published concerning whether PS mutations cause 'abnormal' gain or (partial) loss of function of c-secretase. To avoid the possibility that wild-type PS confounds the interpretati… Show more

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Cited by 391 publications
(406 citation statements)
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“…1B ), thereby validating our substrate and cell-based system. Interestingly, and in contradiction with observations reported by Bentahir et al [10], the same PS1- and PS2-expressing cells that generated different amounts of Aβ generated equal amounts of AICD-GVP as measured by both a neo-epitope ELISA specific for the N-terminus of AICD (Fig. 1C ) and a Luciferase reporter gene assay (Fig.…”
Section: Resultscontrasting
confidence: 95%
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“…1B ), thereby validating our substrate and cell-based system. Interestingly, and in contradiction with observations reported by Bentahir et al [10], the same PS1- and PS2-expressing cells that generated different amounts of Aβ generated equal amounts of AICD-GVP as measured by both a neo-epitope ELISA specific for the N-terminus of AICD (Fig. 1C ) and a Luciferase reporter gene assay (Fig.…”
Section: Resultscontrasting
confidence: 95%
“…Conditioned media was then harvested for Aβ ELISA at the same time that cell lysates were harvested for AICD-GVP ELISA or Luciferase assay. Consistent with previous reports [10, 11, 13], the Aβ ELISA demonstrated that PS1 generates approximately five-fold more Aβ than PS2 (Fig. 1B ), thereby validating our substrate and cell-based system.…”
Section: Resultssupporting
confidence: 92%
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