September 2022 Cell Surface Calcium-Sensing Receptor Heterodimers: Mutant Gene Dosage Affects Ca 2+ Sensing CaSR-GABAB1 and CaSR-GABAB2 chimeras subject to GABAB -dependent endoplasmic reticulum sorting to traffic mutant Transfected HEK-293 cells were assessed for Ca2+o -stimulated Ca2+i mobilization using mutations in either When the same mutation was present in both VFT domains of receptor dimers, analogous to homozygous neonatal Mutant heterodimers containing one wild-type (WT) and one mutant VFT domain, however, corresponding to

Characterization of a new WHIM syndrome mutant reveals mechanistic differences in regulation of the chemokine and compare the properties of S339fs5 with wild type CXCR4 and a previously identified WHIM syndrome mutant The S339fs5 and R334X mutants exhibited significantly increased signaling compared to wild type CXCR4 effectively inhibited by the CXCR4 antagonist TE-14016, this had no effect on the degradation of the WHIM mutants Taken together, these studies identify a new WHIM syndrome mutant, CXCR4-S339fs5, that promotes enhanced

Mutations in G protein-coupled receptors (GPCRs) underlie numerous diseases. Pharmacological chaperones are cell-permeant small molecules that engage nascent mutant GPCRs in the We previously demonstrated rescue of cell surface expression of luteinizing hormone receptor mutants Here we demonstrate that a similar approach can be employed to rescue mutant follicle-stimulating hormone acts as a pharmacological chaperone and can rescue cell surface expression and function of certain mutant

Tags double mutant cycle analysis , protein expression , protein-protein interaction , receptor binding

Regions of Regulators of G Protein Signaling Predicted by Three-Dimensional Missense Tolerance Ratio Analysis Here we analyze the RGS domains of 15 RGS protein family members using a novel bioinformatic tool that Subsequent permutation analysis can define the protein regions that are most significantly intolerant , including cancer-linked mutations in regulator of G protein signaling (RGS) proteins. (3DMTR) to define regions of genetic intolerance in RGS proteins and prioritize which cancer-linked mutants

We performed genetic epistasis between Gpr161 or Ankmy2 mutants, and Gli2/Gli3 knockouts, Gli3R knock-in We also tested the role of cilia-generated signaling using a Gpr161 ciliary localization knock-in mutant