| http://purl.uniprot.org/citations/8188715 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8188715 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8188715 | http://www.w3.org/2000/01/rdf-schema#comment | "Here we report the identification of a new mutation in the alpha-chain of the insulin receptor, changing Trp412 into Ser using DNA from consanguineous parents who gave birth to a child with leprechaunism. The mutant receptor was expressed stably in CHO and transiently in COS-1 cells. It was found that the Ser412 mutant is not cleaved into alpha- and beta-subunits and remains as a 210-kDa proreceptor at an intracellular site. This property of the mutant receptor is in line with the observed decreased insulin binding to the parental fibroblasts. Cross-linking experiments show that the Ser412 proreceptor is able to bind insulin with an affinity comparable to that of the wild-type alpha-chain. Despite its capacity to bind insulin, the mutant receptor is not autophosphorylated. We postulate that the patient was homozygous for the Trp412-->Ser mutation and that the mutation was responsible for the leprechaun phenotype. This is the first description of a transport-defective receptor with the mutation outside the tetrabasic processing site and a functional insulin binding domain. The ability of the Ser412 mutant to bind insulin in cross-linking experiments suggests that the impaired transport of the proreceptor to the cell surface is the primary cause for the binding defect to intact cells."xsd:string |
| http://purl.uniprot.org/citations/8188715 | http://purl.org/dc/terms/identifier | "doi:10.1016/s0021-9258(17)36788-1"xsd:string |
| http://purl.uniprot.org/citations/8188715 | http://purl.org/dc/terms/identifier | "doi:10.1016/s0021-9258(17)36788-1"xsd:string |
| http://purl.uniprot.org/citations/8188715 | http://purl.uniprot.org/core/author | "Maassen J.A."xsd:string |
| http://purl.uniprot.org/citations/8188715 | http://purl.uniprot.org/core/author | "Maassen J.A."xsd:string |
| http://purl.uniprot.org/citations/8188715 | http://purl.uniprot.org/core/author | "Kuipers A."xsd:string |
| http://purl.uniprot.org/citations/8188715 | http://purl.uniprot.org/core/author | "Kuipers A."xsd:string |
| http://purl.uniprot.org/citations/8188715 | http://purl.uniprot.org/core/author | "Moller W."xsd:string |
| http://purl.uniprot.org/citations/8188715 | http://purl.uniprot.org/core/author | "Moller W."xsd:string |
| http://purl.uniprot.org/citations/8188715 | http://purl.uniprot.org/core/author | "Kielkopf-Renner S."xsd:string |
| http://purl.uniprot.org/citations/8188715 | http://purl.uniprot.org/core/author | "Kielkopf-Renner S."xsd:string |
| http://purl.uniprot.org/citations/8188715 | http://purl.uniprot.org/core/author | "Krans H.M.J."xsd:string |
| http://purl.uniprot.org/citations/8188715 | http://purl.uniprot.org/core/author | "Krans H.M.J."xsd:string |
| http://purl.uniprot.org/citations/8188715 | http://purl.uniprot.org/core/author | "van der Vorm E.R."xsd:string |
| http://purl.uniprot.org/citations/8188715 | http://purl.uniprot.org/core/author | "van der Vorm E.R."xsd:string |
| http://purl.uniprot.org/citations/8188715 | http://purl.uniprot.org/core/date | "1994"xsd:gYear |
| http://purl.uniprot.org/citations/8188715 | http://purl.uniprot.org/core/date | "1994"xsd:gYear |
| http://purl.uniprot.org/citations/8188715 | http://purl.uniprot.org/core/name | "J. Biol. Chem."xsd:string |
| http://purl.uniprot.org/citations/8188715 | http://purl.uniprot.org/core/name | "J. Biol. Chem."xsd:string |
| http://purl.uniprot.org/citations/8188715 | http://purl.uniprot.org/core/pages | "14297-14302"xsd:string |
| http://purl.uniprot.org/citations/8188715 | http://purl.uniprot.org/core/pages | "14297-14302"xsd:string |
| http://purl.uniprot.org/citations/8188715 | http://purl.uniprot.org/core/title | "A mutation in the insulin receptor that impairs proreceptor processing but not insulin binding."xsd:string |
| http://purl.uniprot.org/citations/8188715 | http://purl.uniprot.org/core/title | "A mutation in the insulin receptor that impairs proreceptor processing but not insulin binding."xsd:string |