Pharmacochaperone-mediated rescue of calcium-sensing receptor loss-of-function mutants.

doi:10.1210/me.2009-0041

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Article

Pharmacochaperone-mediated rescue of calcium-sensing receptor loss-of-function mutants.

Molecular endocrinology (Baltimore, Md.) - 1 Jul 2009

White Elissa, McKenna Jennifer, Cavanaugh Alice, Breitwieser Gerda E

Abstract excerpt

The calcium sensing receptor (CaSR) is a Family C/3 G protein-coupled receptor that translates changes in extracellular Ca(2+) into diverse intracellular signals. Loss-of-function mutations in human CaSR cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. CaSR must navigate a number of endoplasmic reticulum quality control checkpoints during biosynthesis, including a...

Topics

Allosteric Regulation
Allosteric Site
Cell Membrane
Cells, Cultured
Humans
Models, Biological
Molecular Chaperones
Mutant Proteins
Polymorphism, Single Nucleotide
Receptors, Calcium-Sensing

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PMID: 19389809
DOI: 10.1210/me.2009-0041
PMCID: PMC2703600

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