{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Hurt CM"],"funding":["NINDS NIH HHS"],"pagination":["569-579"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC4035122"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["387(6)"],"pubmed_abstract":["Various naturally occurring polymorphic forms of human G protein-coupled receptors (GPCRs) have been identified and linked to diverse pathological diseases, including receptors for vasopressin type 2 (nephrogenic diabetes insipidus) and gonadotropin releasing hormone (hypogonadotropic hypogonadism). In most cases, polymorphic amino acid mutations disrupt protein folding, altering receptor function as well as plasma membrane expression. Other pathological GPCR variants have been found that do not alter receptor function, but instead affect only plasma membrane trafficking (e.g., delta opiate and histamine type 1 receptors). Thus, altered membrane trafficking with retained receptor function may be another mechanism causing polymorphic GPCR dysfunction. Two common human α2A and α2C adrenergic"],"journal":["Naunyn-Schmiedeberg's archives of pharmacology"],"pubmed_title":["Common α2A and α2C adrenergic receptor polymorphisms do not affect plasma membrane trafficking."],"pmcid":["PMC4035122"],"funding_grant_id":["K08NS050654-01A1","K08 NS050654"],"pubmed_authors":["Sorensen MW","Hurt CM","Angelotti T"],"additional_accession":[]},"is_claimable":false,"name":"Common α2A and α2C adrenergic receptor polymorphisms do not affect plasma membrane trafficking.","description":"Various naturally occurring polymorphic forms of human G protein-coupled receptors (GPCRs) have been identified and linked to diverse pathological diseases, including receptors for vasopressin type 2 (nephrogenic diabetes insipidus) and gonadotropin releasing hormone (hypogonadotropic hypogonadism). In most cases, polymorphic amino acid mutations disrupt protein folding, altering receptor function as well as plasma membrane expression. Other pathological GPCR variants have been found that do not alter receptor function, but instead affect only plasma membrane trafficking (e.g., delta opiate and histamine type 1 receptors). Thus, altered membrane trafficking with retained receptor function may be another mechanism causing polymorphic GPCR dysfunction. Two common human α2A and α2C adrenergic","dates":{"release":"2014-01-01T00:00:00Z","publication":"2014 Jun","modification":"2025-04-22T00:07:00.65Z","creation":"2019-03-27T01:28:55Z"},"accession":"S-EPMC4035122","cross_references":{"pubmed":["24643471"],"doi":["10.1007/s00210-014-0972-6"]}}