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ea0034p17 | Bone | SFEBES2014

The calcilytic NPS2143 rectifies the gain-of-function associated with G-protein α 11 mutations causing autosomal dominant hypocalcaemia type 2

Babinsky Valerie , Hannan Fadil , Nesbit M Andrew , Howles Sarah , Hu Jianxin , Spiegel Allen , Thakker Rajesh

Autosomal dominant hypocalcaemia (ADH) is a disorder that needs to be distinguished from hypoparathyroidism, as ADH patients are at risk of nephrocalcinosis and renal failure when treated with activated vitamin D preparations. ADH types 1 and 2 are due to gain-of-function mutations of the calcium-sensing receptor (CaSR) and G-protein α 11 (Gα11), respectively. CaSR targeted drugs, known as calcilytics, rectify the gain-of-function associated with ADH1-causing mutatio...

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ea0015oc24 | Tumours, diabetes, bone | SFEBES2008

The calcilytic agent NPS2143 rectifies hypocalcaemia in a mouse model, Nuf, that is due to an activating calcium-sensing-receptor (CaSR) mutation: relevance to autosomal dominant hypocalcaemia with hypercalciuria

Hannan Fadil , Walls Gerard , Kallay Eniko , Nesbit M Andrew , Hough Tertius , Cox Roger , Hu Jianxin , Spiegel Allen , Thakker Rajesh

The G-protein coupled calcium-sensing-receptor (CaSR) regulates calcium homeostasis and inactivating mutations result in familial hypocalciuric hypercalcaemia (FHH), whilst activating mutations result in autosomal dominant hypocalcaemia with hypercalciuria (ADHH). Allosteric CaSR modulators consist of: calcimimetics, which activate the CaSR e.g. Cinacalcet, that is used to treat the hypercalcaemia of chronic renal failure and metastatic parathyroid carcinoma; and calcilytics e...

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ea0015np1 | Novartis prize posters | SFEBES2008

The calcilytic agent NPS2143 rectifies hypocalcaemia in a mouse model, Nuf, that is due to an activating calcium-sensing-receptor (CaSR) mutation: Relevance to Autosomal Dominant Hypocalcaemia with Hypercalciuria

Hannan Fadil , Walls Gerard , Kallay Eniko , Andrew Nesbit M , Hough Tertius , Cox Roger , Hu Jianxin , Spiegel Allen , Thakker Rajesh

(This poster is based on OC24)...

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Endocrine Abstracts

The calcilytic NPS2143 rectifies the gain-of-function associated with G-protein α 11 mutations causing autosomal dominant hypocalcaemia type 2

The calcilytic agent NPS2143 rectifies hypocalcaemia in a mouse model, Nuf, that is due to an activating calcium-sensing-receptor (CaSR) mutation: relevance to autosomal dominant hypocalcaemia with hypercalciuria

The calcilytic agent NPS2143 rectifies hypocalcaemia in a mouse model, Nuf, that is due to an activating calcium-sensing-receptor (CaSR) mutation: Relevance to Autosomal Dominant Hypocalcaemia with Hypercalciuria

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