Coding GNAS mutations leading to hormone resistance impair in vitro agonist- and cholera toxin-induced adenosine cyclic 3',5'-monophosphate formation mediated by human XLalphas.

Abstract excerpt

Most loss of function mutations of GNAS identified in different forms of pseudohypoparathyroidism disrupt not only the stimulatory G protein alpha-subunit (Gsalpha), but also its paternally expressed variant, XLalphas. However, the possibility that XLalphas deficiency contributes to disease pathogenesis has remained unexplored. We therefore examined the signaling property of human XLalphas and the effects of one...

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