The role of the sigma subunit of Adaptor Protein-2, AP2σ2, in the regulation of calcium homeostasis
A Rogers - 2016 - ora.ox.ac.uk
The calcium sensing receptor (CaSR), a G-protein coupled receptor (GPCR), and its
downstream signalling pathways are essential for calcium homeostasis. Loss-or gain-of …
downstream signalling pathways are essential for calcium homeostasis. Loss-or gain-of …
Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 exert dominant-negative effects
Adaptor protein-2 (AP2) is a heterotetramer of α, β, μ, and σ subunits that is pivotal in clathrin-
mediated endocytosis and facilitates internalisation of plasma membrane constituents such …
mediated endocytosis and facilitates internalisation of plasma membrane constituents such …
Ap2s1 mutation causes hypercalcaemia in mice and impairs interaction between calcium-sensing receptor and adaptor protein-2
FM Hannan, M Stevenson, AL Bayliss… - Human Molecular …, 2021 - academic.oup.com
Abstract Adaptor protein 2 (AP2), a heterotetrameric complex comprising AP2α, AP2β2,
AP2μ2 and AP2σ2 subunits, is ubiquitously expressed and involved in endocytosis and …
AP2μ2 and AP2σ2 subunits, is ubiquitously expressed and involved in endocytosis and …
Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype–phenotype correlations, codon bias …
FM Hannan, SA Howles, A Rogers… - Human molecular …, 2015 - academic.oup.com
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 …
plasma membrane constituents such as the calcium-sensing receptor (CaSR). Mutations of …
The role of AP2σ variants in calcitropic and non-calcitropic disorders
V Stokes - 2022 - ora.ox.ac.uk
The Adaptor Protein 2 (AP2) is a heterotetrameric complex comprising of α, β, μ and σ-
subunits, and it has an integral role in clathrin-mediated endocytosis (CME). CME is the …
subunits, and it has an integral role in clathrin-mediated endocytosis (CME). CME is the …
FHH3-associated AP2σ mutations impair MAPK signalling pathways
A Rogers, C Gorvin, M Whyte… - Endocrine …, 2015 - endocrine-abstracts.org
Familial hypocalciuric hypercalcaemia type-3 (FHH3) is caused by loss-of-function
mutations of the sigma subunit of adaptor protein-2 (AP2), a ubiquitously expressed …
mutations of the sigma subunit of adaptor protein-2 (AP2), a ubiquitously expressed …
The role of the G-protein subunit, G-alpha-11, and the adaptor protein 2 sigma subunit, ap2-sigma-2, in the regulation of calcium homeostasis
S Howles - 2015 - ora.ox.ac.uk
The calcium sensing receptor (CaSR) is a G-protein coupled receptor (GPCR) that plays a
central role in calcium homeostasis. Loss-of-function mutations of the CaSR cause familial …
central role in calcium homeostasis. Loss-of-function mutations of the CaSR cause familial …
Calcium-sensing receptor internalisation is impaired in cells expressing FHH3-associated AP2σ mutations
C Gorvin, B Hastoy, G Breitwieser… - Endocrine …, 2015 - endocrine-abstracts.org
The calcium-sensing receptor (CaSR), a class C G-protein coupled receptor (GPCR) is
critical for calcium homeostasis. The presence of CaSR at the plasma membrane (PM) is …
critical for calcium homeostasis. The presence of CaSR at the plasma membrane (PM) is …
Familial hypocalciuric hypercalcaemia type 3 is caused by mutations in adaptor protein 2 sigma 1
Familial hypocalciuric hypercalcaemia (FHH) is an autosomal dominant disorder
characterized by lifelong elevation of serum calcium concentrations with inappropriately low …
characterized by lifelong elevation of serum calcium concentrations with inappropriately low …
Large-scale exome datasets reveal a new class of adaptor-related protein complex 2 sigma subunit (AP2σ) mutations, located at the interface with the AP2 alpha …
CM Gorvin, R Metpally, VJ Stokes… - Human Molecular …, 2018 - academic.oup.com
Mutations of the sigma subunit of the heterotetrameric adaptor-related protein complex 2
(AP2σ) impair signalling of the calcium-sensing receptor (CaSR), and cause familial …
(AP2σ) impair signalling of the calcium-sensing receptor (CaSR), and cause familial …