Article
A pathogenic presenilin-1 deletion causes abberrant Abeta 42 production in the absence of congophilic amyloid plaques.
The Journal of biological chemistry - 9 Mar 2001
Steiner H, Revesz T, Neumann M, Romig H, Grim M G, Pesold B, Kretzschmar H A, Hardy J, Holton J L, Baumeister R, Houlden H, Haass C
Abstract excerpt
Familial Alzheimer's disease (FAD) is frequently associated with mutations in the presenilin-1 (PS1) gene. Almost all PS1-associated FAD mutations reported so far are exchanges of single conserved amino acids and cause the increased production of the highly amyloidogenic 42-residue amyloid beta-p...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.