Ontology highlight
ABSTRACT:
SUBMITTER: Tamayev R
PROVIDER: S-EPMC3376850 | biostudies-other | 2012 Mar
REPOSITORIES: biostudies-other
Tamayev Robert R Matsuda Shuji S Arancio Ottavio O D'Adamio Luciano L D'Adamio Luciano L
EMBO molecular medicine 20120123 3
A mutation in the BRI2/ITM2b gene causes loss of BRI2 protein leading to familial Danish dementia (FDD). BRI2 deficiency of FDD provokes an increase in amyloid-β precursor protein (APP) processing since BRI2 is an inhibitor of APP proteolysis, and APP mediates the synaptic/memory deficits in FDD. APP processing is linked to Alzheimer disease (AD) pathogenesis, which is consistent with a common mechanism involving toxic APP metabolites in both dementias. We show that inhibition of APP cleavage by ...[more]