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Article

Abnormal cross-talk between mutant presenilin 1 (I143T, G384A) and glycosphingolipid biosynthesis.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology - 1 Jul 2012

Mutoh Tatsuro, Kawamura Naoki, Hirabayashi Yoshio, Shima Sayuri, Miyashita Tadayuki, Ito Shinji, Asakura Kunihiko, Araki Wataru, Cazzaniga Emanuela, Muto Eri, Masserini Massimo

Abstract excerpt

Mutations in the presenilin 1 (PS1) gene are associated with early onset familial Alzheimer's disease (FAD). In this study, we found that the expression of mutant-PS1 in stable transfectants of SH-SY5Y neuroblastoma cells results in a reduction of the biosynthesis and steady-state levels of glucosylceramide. As an in vivo corroboration of these data, there was a significant reduction of brain glucosylceramide and...

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PMID: 22508690
DOI: 10.1096/fj.11-198630

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