Gain-of-Function Enhancement of IP 3 Receptor Modal Gating by Familial Alzheimer’s Disease–Linked Presenilin Mutants in Human Cells and Mouse Neurons

• DOI: 10.1126/scisignal.2000818
• Publication Date: 2010-03-23T22:09:36Z
• Authors: King-Ho Cheung; Lijuan Mei; Don-On Daniel Mak; Ikuo Hayashi; Takeshi Iwatsubo; David E. Kang; J. Kevin Foskett
• Keywords: Neurons; 0301 basic medicine; B-Lymphocytes; 572; Models, Neurological; Presenilins; In Vitro Techniques; Recombinant Proteins; 3. Good health; Mice; 03 medical and health sciences; Alzheimer Disease; Chemicals And Cas Registry Numbers; Mutation; Presenilin-2; Presenilin-1; Animals; Humans; Inositol 1,4,5-Trisphosphate Receptors; Calcium Signaling; Ion Channel Gating

By altering IP 3 receptor gating, presenilin mutations associated with familial Alzheimer’s disease increase Ca 2+ release from the endoplasmic reticulum.