Article
MLK3 regulates bone development downstream of the faciogenital dysplasia protein FGD1 in mice.
The Journal of clinical investigation - 1 Nov 2011
Zou Weiguo, Greenblatt Matthew B, Shim Jae-Hyuck, Kant Shashi, Zhai Bo, Lotinun Sutada, Brady Nicholas, Hu Dorothy Zhang, Gygi Steven P, Baron Roland, Davis Roger J, Jones Dallas, Glimcher Laurie H
Abstract excerpt
Mutations in human FYVE, RhoGEF, and PH domain-containing 1 (FGD1) cause faciogenital dysplasia (FGDY; also known as Aarskog syndrome), an X-linked disorder that affects multiple skeletal structures. FGD1 encodes a guanine nucleotide exchange factor (GEF) that specifically activates the Rho GTPase CDC42. However, the mechanisms by which mutations in FGD1 affect skeletal development are unknown. Here, we describe...
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