Presenilins and Alzheimer's disease.
Mutations in the genes encoding the presenilins cause the majority of early-onset cases of Alzheimer's disease (AD). The identification of the presenilin genes has provided new opportunities for elucidating the molecular mechanisms underlying the etiology and pathogenesis of AD. Recent progress has been made in attempts to understand the normal and pathological functions of the presenilins, emphasizing the effects of presenilin familial AD mutations on the amyloid beta-protein precursor, the presenilins themselves, and apoptotic cell death.
Kim
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TW
Genetics and Aging Unit, Massachusetts General Hospital, Charlestown, Massachusetts 02129, USA. kim@helix.mgh.harvard.edu
Tanzi
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D000544:Alzheimer Disease / Q000235:genetics / Q000378:metabolism*; D000818:Animals; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics / Q000378:metabolism*; D053766:Presenilin-2
D008565:Membrane Proteins; C508861:PSEN2 protein, human; D053766:Presenilin-2