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Article

Loss-of-function and gain-of-function mutations of calcium-sensing receptor: functional analysis and the effect of allosteric modulators NPS R-568 and NPS 2143.

The Journal of clinical endocrinology and metabolism - 1 Oct 2013

Nakamura Akie, Hotsubo Tomoyuki, Kobayashi Keiji, Mochizuki Hiroshi, Ishizu Katsura, Tajima Toshihiro

Abstract excerpt

OBJECTIVE: Activating mutations in the calcium-sensing receptor (CASR) gene cause autosomal dominant hypoparathyroidism, and heterozygous inactivating CASR mutations cause familial hypocalciuric hypercalcemia. Recently, there has been a focus on the use of allosteric modulators to restore the functional activity of mutant CASRs. In this study, the effect of allosteric modulators NPS R-568 and NPS 2143 on CASR...

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Source

Identifiers

PMID: 23966241
DOI: 10.1210/jc.2013-1974

Genes

NPS
CASR

Variants

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