Article
A rare mutation in UNC5C predisposes to late-onset Alzheimer's disease and increases neuronal cell death.
Nature medicine - 1 Dec 2014
Wetzel-Smith Monica K, Hunkapiller Julie, Bhangale Tushar R, Srinivasan Karpagam, Maloney Janice A, Atwal Jasvinder K, Sa Susan M, Yaylaoglu Murat B, Foreman Oded, Ortmann Ward, Rathore Nisha, Hansen David V, Tessier-Lavigne Marc, Mayeux Richard, Pericak-Vance Margaret, Haines Jonathan, Farrer Lindsay A, Schellenberg Gerard D, Goate Alison, Behrens Timothy W, Cruchaga Carlos, Watts Ryan J, Graham Robert R
Abstract excerpt
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...
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