Article
Independent mutations at Arg181 and Arg274 of Vangl proteins that are associated with neural tube defects in humans decrease protein stability and impair membrane targeting.
Biochemistry - 19 Aug 2014
Iliescu Alexandra, Gravel Michel, Horth Cynthia, Gros Philippe
Abstract excerpt
In vertebrates, Vangl proteins play important roles during embryogenesis, including establishing planar polarity and coordinating convergent extension movements. In mice, homozygosity for mutations in the Vangl1 and Vangl2 genes or combined heterozygosity for Vangl1/Vangl2 mutations causes the very severe neural tube defect (NTD) craniorachischisis. Recently, a number of patient-specific VANGL1 and VANGL2 protein...
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