Article
Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effects.
Human molecular genetics - 15 Sept 2015
Hannan Fadil M, Howles Sarah A, Rogers Angela, Cranston Treena, Gorvin Caroline M, Babinsky Valerie N, Reed Anita A, Thakker Clare E, Bockenhauer Detlef, Brown Rosalind S, Connell John M, Cook Jacqueline, Darzy Ken, Ehtisham Sarah, Graham Una, Hulse Tony, Hunter Steven J, Izatt Louise, Kumar Dhavendra, McKenna Malachi J, McKnight John A, Morrison Patrick J, Mughal M Zulf, O'Halloran Domhnall, Pearce Simon H, Porteous Mary E, Rahman Mushtaqur, Richardson Tristan, Robinson Robert, Scheers Isabelle, Siddique Haroon, Van't Hoff William G, Wang Timothy, Whyte Michael P, Nesbit M Andrew, Thakker Rajesh V
Abstract excerpt
The adaptor protein-2 sigma subunit (AP2σ2) is pivotal for clathrin-mediated endocytosis of plasma membrane constituents such as the calcium-sensing receptor (CaSR). Mutations of the AP2σ2 Arg15 residue result in familial hypocalciuric hypercalcaemia type 3 (FHH3), a disorder of extracellular calcium (Ca(2+) o) homeostasis. To elucidate the role of AP2σ2 in Ca(2+) o regulation, we investigated 65 FHH probands,...
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