Allosteric Modulation of the Calcium-sensing Receptor Rectifies Signaling Abnormalities Associated with G-protein α-11 Mutations Causing Hypercalcemic and Hypocalcemic Disorders

Germline loss- and gain-of-function mutations of G-protein α-11 (Gα11), which couples the calcium-sensing receptor (CaSR) to intracellular calcium (Ca2+i) signaling, lead to familial hypocalciuric hypercalcemia type 2 (FHH2) and autosomal dominant hypocalcemia type 2 (ADH2), respectively, whereas so...

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Veröffentlicht in:	The Journal of biological chemistry 2016-05, Vol.291 (20), p.10876-10885
Hauptverfasser:	Babinsky, Valerie N., Hannan, Fadil M., Gorvin, Caroline M., Howles, Sarah A., Nesbit, M. Andrew, Rust, Nigel, Hanyaloglu, Aylin C., Hu, Jianxin, Spiegel, Allen M., Thakker, Rajesh V.
Format:	Artikel
Sprache:	eng
Schlagworte:	Allosteric Regulation - drug effects Allosteric Regulation - genetics Amino Acid Substitution autosomal dominant hypocalcemia calcium Cinacalcet - pharmacology drug action familial hypocalciuric hypercalcemia G protein genetic disease GNA11 GTP-Binding Protein alpha Subunits, Gq-G11 - genetics GTP-Binding Protein alpha Subunits, Gq-G11 - metabolism HEK293 Cells Humans Hypercalcemia - genetics Hypercalcemia - metabolism Hypocalcemia - genetics Hypocalcemia - metabolism Mutation, Missense Naphthalenes - pharmacology parathyroid hormone Receptors, Calcium-Sensing - genetics Receptors, Calcium-Sensing - metabolism Signal Transduction uveal melanoma
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