Article
Crooked tail (Cd) model of human folate-responsive neural tube defects is mutated in Wnt coreceptor lipoprotein receptor-related protein 6.
Proceedings of the National Academy of Sciences of the United States of America - 6 Sept 2005
Carter Michelle, Chen Xu, Slowinska Bozena, Minnerath Sharon, Glickstein Sara, Shi Lei, Campagne Fabien, Weinstein Harel, Ross M Elizabeth
Abstract excerpt
A cranial neural tube defect in Crooked tail (Cd) mice is prevented with prenatal dietary folic acid Cd positional cloning reveals a missense mutation of a highly conserved amino acid in the low density lipoprotein receptor-related protein 6 (Lrp6), a coreceptor required for Wnt canonical signaling. Molecular modeling predicts that Lrp6(Cd) alters a hinge region of the second YWTD beta-propeller domain. Mutant...
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