Proteolytic processing of presenilin-1 in human lymphoblasts is not affected by the presence of the I143T and G384A mutations.

doi:10.1016/s0304-3940(99)00722-3

Article

Proteolytic processing of presenilin-1 in human lymphoblasts is not affected by the presence of the I143T and G384A mutations.

Neuroscience letters - 29 Oct 1999

Vanderhoeven I, Cras P, Martin J J, Van Broeckhoven C, De Jonghe C

Abstract excerpt

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...

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Proteolytic processing of presenilin-1 in human lymphoblasts is not affected by the presence of the I143T and G384A mutations.

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