Cargando…

Ap2s1 mutation causes hypercalcaemia in mice and impairs interaction between calcium-sensing receptor and adaptor protein-2

Adaptor protein 2 (AP2), a heterotetrameric complex comprising AP2α, AP2β2, AP2μ2 and AP2σ2 subunits, is ubiquitously expressed and involved in endocytosis and trafficking of membrane proteins, such as the calcium-sensing receptor (CaSR), a G-protein coupled receptor that signals via Gα(11). Mutatio...

Descripción completa

Detalles Bibliográficos
Autores principales:	Hannan, Fadil M, Stevenson, Mark, Bayliss, Asha L, Stokes, Victoria J, Stewart, Michelle, Kooblall, Kreepa G, Gorvin, Caroline M, Codner, Gemma, Teboul, Lydia, Wells, Sara, Thakker, Rajesh V
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2021
Materias:	General Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8165646/ https://www.ncbi.nlm.nih.gov/pubmed/33729479 http://dx.doi.org/10.1093/hmg/ddab076

Ejemplares similares

MON-539 Mice Harboring a Germline Heterozygous AP2S1 Mutation, Arg15Leu, Are a Model for Familial Hypocalciuric Hypercalcemia Type 3 (FHH3)
por: Hannan, Fadil, et al.
Publicado: (2019)

N‐ethyl‐N‐nitrosourea–Induced Adaptor Protein 2 Sigma Subunit 1 (Ap2s1) Mutations Establish Ap2s1 Loss‐of‐Function Mice
por: Gorvin, Caroline M, et al.
Publicado: (2017)

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 subunit, that impair calcium-sensing receptor signalling
por: Gorvin, Caroline M, et al.
Publicado: (2018)

SAT-036 Extracellular Domain Calcium-Sensing Receptor (CaSR) Mutations Leading to Hypercalcemic and Hypocalcemic Disorders Cluster at the Homodimeric Interface
por: Olesen, Mie, et al.
Publicado: (2019)

Genetic causes of neonatal and infantile hypercalcaemia
por: Gorvin, Caroline M.
Publicado: (2021)

Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype–phenotype correlations, codon bias and dominant-negative effects
por: Hannan, Fadil M., et al.
Publicado: (2015)

A G‐protein Subunit‐α11 Loss‐of‐Function Mutation, Thr54Met, Causes Familial Hypocalciuric Hypercalcemia Type 2 (FHH2)
por: Gorvin, Caroline M, et al.
Publicado: (2016)

Cinacalcet Rectifies Hypercalcemia in a Patient With Familial Hypocalciuric Hypercalcemia Type 2 (FHH2) Caused by a Germline Loss‐of‐Function Gα(11) Mutation
por: Gorvin, Caroline M, et al.
Publicado: (2017)

Multiple Endocrine Neoplasia Type 1 (MEN1) Phenocopy Due to a Cell Cycle Division 73 (CDC73) Variant
por: Lines, Kate E, et al.
Publicado: (2020)

miR-3156-5p is downregulated in serum of MEN1 patients and regulates expression of MORF4L2
por: Kooblall, Kreepa G, et al.
Publicado: (2022)

OR30-5 Germline Ablation of G-Protein Subunit Alpha-11 in Mice Causes Hypercalcemia That Is Rectified by Treatment with Cinacalcet
por: Hannan, Fadil, et al.
Publicado: (2019)

Calcilytic NPSP795 Increases Plasma Calcium and PTH in an Autosomal Dominant Hypocalcemia Type 1 Mouse Model
por: Hannan, Fadil M, et al.
Publicado: (2020)

MON-335 Phenocopy of Multiple Endocrine Neoplasia Type 1 (MEN1) Due to a Germline Cell Division Cycle 73 (CDC73) Variant
por: Lines, Kate, et al.
Publicado: (2019)

The AP2 adaptor enhances clathrin coat stiffness
por: Lherbette, Michael, et al.
Publicado: (2019)

Activating Mutations of the G-protein Subunit α (11) Interdomain Interface Cause Autosomal Dominant Hypocalcemia Type 2
por: Gorvin, Caroline M, et al.
Publicado: (2019)

Hypercalcemic Disorders in Children
por: Stokes, Victoria J, et al.
Publicado: (2017)

A Hong Kong Chinese kindred with familial hypocalciuric hypercalcaemia caused by AP2S1 mutation
por: Wong, Felix Chi Kin, et al.
Publicado: (2019)

VGLUT2 Trafficking Is Differentially Regulated by Adaptor Proteins AP-1 and AP-3
por: Li, Haiyan, et al.
Publicado: (2017)

Spectrum of germline AIRE mutations causing APS-1 and familial hypoparathyroidism
por: Cranston, Treena, et al.
Publicado: (2022)

Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3
por: Nesbit, M. Andrew, et al.
Publicado: (2012)

NECAPs are negative regulators of the AP2 clathrin adaptor complex
por: Beacham, Gwendolyn M, et al.
Publicado: (2018)

A Mouse Model with a Frameshift Mutation in the Nuclear Factor I/X ( NFIX ) Gene Has Phenotypic Features of Marshall‐Smith Syndrome
por: Kooblall, Kreepa G., et al.
Publicado: (2023)

Calcium-sensing receptor residues with loss- and gain-of-function mutations are located in regions of conformational change and cause signalling bias
por: Gorvin, Caroline M, et al.
Publicado: (2018)

Screening and validation of genome-edited animals
por: Bunton-Stasyshyn, Rosie K, et al.
Publicado: (2021)

Adaptor Protein 2 (AP-2) complex is essential for functional axogenesis in hippocampal neurons
por: Kyung, Jae Won, et al.
Publicado: (2017)

Neonatal Hypocalcemic Seizures in Offspring of a Mother With Familial Hypocalciuric Hypercalcemia Type 1 (FHH1)
por: Dharmaraj, Poonam, et al.
Publicado: (2020)

SAT-404 Neonatal Hypocalcemic Seizures in Offspring of a Mother with Familial Hypocalciuric Hypercalcemia Type 1 (FHH1)
por: Hannan, Fadil M, et al.
Publicado: (2020)

Sorting it out: AP-2 and alternate clathrin adaptors in endocytic cargo selection
por: Traub, Linton M.
Publicado: (2003)

Transient Fcho1/2⋅Eps15/R⋅AP-2 Nanoclusters Prime the AP-2 Clathrin Adaptor for Cargo Binding
por: Ma, Li, et al.
Publicado: (2016)

Characterization of the Adaptor-related Protein Complex, AP-3
por: Simpson, Fiona, et al.
Publicado: (1997)

AP-3 adaptor complex-mediated vesicle trafficking
por: Ma, Zhuo, et al.
Publicado: (2021)

Disorders of the calcium-sensing receptor and partner proteins: insights into the molecular basis of calcium homeostasis
por: Hannan, Fadil M, et al.
Publicado: (2016)

Clues from hypercalcaemia
por: Nicholson, S, et al.
Publicado: (2002)

Identification of a G‐Protein Subunit‐α11 Gain‐of‐Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2)
por: Piret, Sian E, et al.
Publicado: (2016)

Cinacalcet corrects hypercalcemia in mice with an inactivating Gα(11) mutation
por: Howles, Sarah A., et al.
Publicado: (2017)

Genetic background influences tumour development in heterozygous Men1 knockout mice
por: Lines, Kate E, et al.
Publicado: (2020)

Familial Hypocalciuric Hypercalcemia Type 1 and Autosomal-Dominant Hypocalcemia Type 1: Prevalence in a Large Healthcare Population
por: Dershem, Ridge, et al.
Publicado: (2020)

Autosomal Dominant Hypocalcemia Type 1 (ADH1) Associated With Myoclonus and Intracerebral Calcifications
por: Elston, Marianne S, et al.
Publicado: (2022)

Alpha-2 HS glycoprotein in the hypercalcaemia of multiple myeloma.
por: Crawford, S. M.
Publicado: (1984)

The Role of the Clathrin Adaptor AP-1: Polarized Sorting and Beyond
por: Nakatsu, Fubito, et al.
Publicado: (2014)

Cannot write session to /tmp/vufind_sessions/sess_2g3gce9ab13ko63t8cgn5f11u3