AP2S1 regulates APP degradation through late endosome-lysosome fusion in cells and APP/PS1 mice. | AP2S1 regulates APP degradation through late endosome-lysosome fusion in cells and APP/PS1 mice. Wen QX, Luo B, Xie XY, Zhou GF, Chen J, Song L, Liu Y, Xie SQ, Chen L, Li KY, Xiang XJ, Chen GJ., Free PMC Article | 01/14/2023 |
Mechanism of p38 MAPK-induced EGFR endocytosis and its crosstalk with ligand-induced pathways. | Mechanism of p38 MAPK-induced EGFR endocytosis and its crosstalk with ligand-induced pathways. Perez Verdaguer M, Zhang T, Paulo JA, Gygi S, Watkins SC, Sakurai H, Sorkin A., Free PMC Article | 10/9/2021 |
Hypercalcemia-associated AP2sigma mutations reduced calcium-sensing receptor (CaSR) signaling via Galphaq/11 and Galphai/o pathways. The mutations also delayed CaSR internalization due to prolonged residency time of CaSR in clathrin structures that impaired or abolished endosomal signaling. | AP2σ Mutations Impair Calcium-Sensing Receptor Trafficking and Signaling, and Show an Endosomal Pathway to Spatially Direct G-Protein Selectivity. Gorvin CM, Rogers A, Hastoy B, Tarasov AI, Frost M, Sposini S, Inoue A, Whyte MP, Rorsman P, Hanyaloglu AC, Breitwieser GE, Thakker RV., Free PMC Article | 08/24/2019 |
CaSR and AP2S1 sequencing is worthwhile in patients with familial hyperparathyroidism and phenotype suggesting familial hypocalciuric hypercalcemia as it can diagnose up to 50% of cases. | Stepwise CaSR, AP2S1, and GNA11 sequencing in patients with suspected familial hypocalciuric hypercalcemia. Szalat A, Shpitzen S, Tsur A, Zalmon Koren I, Shilo S, Tripto-Shkolnik L, Durst R, Leitersdorf E, Meiner V. | 08/19/2017 |
In 33 CASR-negative patients with suspected FHH, Data found two (~6%) with a mutation in AP2S1 (p.Arg15Leu and p.Arg15His). Family screening confirmed the genotype-phenotype correlations. Data did not identify any pathogenic mutations in GNA11. | AP2S1 and GNA11 mutations - not a common cause of familial hypocalciuric hypercalcemia. Hovden S, Rejnmark L, Ladefoged SA, Nissen PH. | 02/18/2017 |
our studies demonstrate AP2sigma2 mutations to result in a more severe FHH phenotype with genotype-phenotype correlations, and a dominant-negative mechanism of action with mutational bias at the Arg15 residue. | Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effects. Hannan FM, Howles SA, Rogers A, Cranston T, Gorvin CM, Babinsky VN, Reed AA, Thakker CE, Bockenhauer D, Brown RS, Connell JM, Cook J, Darzy K, Ehtisham S, Graham U, Hulse T, Hunter SJ, Izatt L, Kumar D, McKenna MJ, McKnight JA, Morrison PJ, Mughal MZ, O'Halloran D, Pearce SH, Porteous ME, Rahman M, Richardson T, Robinson R, Scheers I, Siddique H, Van't Hoff WG, Wang T, Whyte MP, Nesbit MA, Thakker RV., Free PMC Article | 06/4/2016 |
The results affirm that a significant number of patients suspected of having Familial hypocalciuric hypercalcemia but proven negative for CASR mutation have AP2S1 p.R15 mutations. | Codon Arg15 mutations of the AP2S1 gene: common occurrence in familial hypocalciuric hypercalcemia cases negative for calcium-sensing receptor (CASR) mutations. Hendy GN, Canaff L, Newfield RS, Tripto-Shkolnik L, Wong BY, Lee BS, Cole DE. | 10/4/2014 |
The absence of AP2S1 abnormalities in hypocalcemic patients, suggests that autosomal dominant hypocalcemia 3 (ADH3) may not occur or otherwise represents a rare hypocalcemic disorder. | Mutational analysis of the adaptor protein 2 sigma subunit (AP2S1) gene: search for autosomal dominant hypocalcemia type 3 (ADH3). Rogers A, Nesbit MA, Hannan FM, Howles SA, Gorvin CM, Cranston T, Allgrove J, Bevan JS, Bano G, Brain C, Datta V, Grossman AB, Hodgson SV, Izatt L, Millar-Jones L, Pearce SH, Robertson L, Selby PL, Shine B, Snape K, Warner J, Thakker RV., Free PMC Article | 10/4/2014 |
None of the 60 patients presented with nucleotidic changes or copy number variation in the AP2S1 gene, thereby excluding AP2S1 defects as a frequent cause of isolated hypoparathyroidism. | Analysis of AP2S1, a calcium-sensing receptor regulator, in familial and sporadic isolated hypoparathyroidism. Lambert AS, Grybek V, Francou B, Esterle L, Bertrand G, Bouligand J, Guiochon-Mantel A, Hieronimus S, Voitel D, Soskin S, Magdelaine C, Lienhardt A, Silve C, Linglart A. | 07/19/2014 |
Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3. | Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3. Nesbit MA, Hannan FM, Howles SA, Reed AA, Cranston T, Thakker CE, Gregory L, Rimmer AJ, Rust N, Graham U, Morrison PJ, Hunter SJ, Whyte MP, McVean G, Buck D, Thakker RV., Free PMC Article | 02/23/2013 |