Reduced affinity of calcium sensing-receptor heterodimers and reduced mutant homodimer trafficking combine to impair function in a model of familial hypocalciuric hypercalcemia type 1

Heterozygous loss-of-function mutation of the calcium sensing-receptor (CaSR), causes familial hypocalciuric hypercalcemia type 1 (FHH1), a typically benign condition characterized by mild hypercalcemia. In contrast, homozygous mutation of this dimer-forming G-protein coupled receptor manifests as t...

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Detalles Bibliográficos
Autores principales: Wang, Xiaohua, Lundblad, James, Smith, Stephen M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9299317/
https://www.ncbi.nlm.nih.gov/pubmed/35857775
http://dx.doi.org/10.1371/journal.pone.0266993

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9299317/
https://www.ncbi.nlm.nih.gov/pubmed/35857775
http://dx.doi.org/10.1371/journal.pone.0266993

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