More than a FAD: the in vivo effects of disease-linked presenilin-1 mutations.
Mutations in presenilins are linked to familial autosomal dominant Alzheimer's disease. In this issue of Neuron, Xia et al. (2015) show that a disease-linked mutation leads to loss of γ-secretase function, cognitive decline, and neurodegeneration when knocked into the mouse genome.
N. Bud Grossman Center for Memory Research and Care, University of Minnesota Medical School, Minneapolis, MN 55455, USA; Department of Neurology, University of Minnesota Medical School, Minneapolis, MN 55455, USA.
Kathleen R
KR
Zahs
N. Bud Grossman Center for Memory Research and Care, University of Minnesota Medical School, Minneapolis, MN 55455, USA; Department of Neurology, University of Minnesota Medical School, Minneapolis, MN 55455, USA; Department of Neuroscience, University of Minnesota Medical School, Minneapolis, MN 55455, USA; Geriatric Research Education Clinical Center, Minneapolis VA Medical Center, Minneapolis, MN 55417, USA. Electronic address: hsiao005@umn.edu.
Karen H
KH
Ashe
D000544:Alzheimer Disease / Q000235:genetics* / Q000378:metabolism*; D000818:Animals; D055879:Gene Knock-In Techniques; D006801:Humans; D008297:Male; D055495:Neurogenesis / Q000502:physiology*; D053764:Presenilin-1 / Q000502:physiology*
D053764:Presenilin-1; C580804:presenilin 1, mouse