Ontology highlight
ABSTRACT:
SUBMITTER: Wetzel-Smith MK
PROVIDER: S-EPMC4301587 | biostudies-literature | 2014 Dec
REPOSITORIES: biostudies-literature
Nature medicine 20141124 12
We have identified a rare coding mutation, T835M (rs137875858), in the UNC5C netrin receptor gene that segregated with disease in an autosomal dominant pattern in two families enriched for late-onset Alzheimer's disease and that was associated with disease across four large case-control cohorts (odds ratio = 2.15, Pmeta = 0.0095). T835M alters a conserved residue in the hinge region of UNC5C, and in vitro studies demonstrate that this mutation leads to increased cell death in human HEK293T cells ...[more]