Article
A suppressor screen in Mecp2 mutant mice implicates cholesterol metabolism in Rett syndrome.
Nature genetics - 1 Sept 2013
Buchovecky Christie M, Turley Stephen D, Brown Hannah M, Kyle Stephanie M, McDonald Jeffrey G, Liu Benny, Pieper Andrew A, Huang Wenhui, Katz David M, Russell David W, Shendure Jay, Justice Monica J
Abstract excerpt
Mutations in MECP2, encoding methyl CpG-binding protein 2, cause Rett syndrome, the most severe autism spectrum disorder. Re-expressing Mecp2 in symptomatic Mecp2-null mice markedly improves function and longevity, providing hope that therapeutic intervention is possible in humans. To identify pathways in disease pathology for therapeutic intervention, we carried out a dominant N-ethyl-N-nitrosourea (ENU)...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.