Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype–phenotype correlations, codon bias and dominant-negative effects

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 calciu...

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Publicado no:Hum Mol Genet
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2015
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4550820/
https://ncbi.nlm.nih.gov/pubmed/26082470
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv226
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