| http://purl.uniprot.org/citations/1730625 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/1730625 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/1730625 | http://www.w3.org/2000/01/rdf-schema#comment | "In a patient with Leprechaunism, we have characterized a new mutation in the insulin receptor substituting Arg for Gly at position 31. The proband, the mother, and the maternal grandfather were heterozygous for the mutation. Fibroblasts of the proband show a strongly reduced number of high affinity insulin receptors on the cell surface, whereas fibroblasts of the healthy mother and grandfather show moderately reduced insulin receptor numbers. In the other family members neither the binding defect nor the Arg31 mutation was found. The Arg31-mutant receptor was overexpressed in Chinese hamster ovary cells. In these cells the mutant alpha beta-proreceptor was not proteolytically cleaved and no transport to the cell surface took place. The proreceptor was unable to bind insulin and to undergo autophosphorylation. In addition, the proreceptor was not recognized by monoclonal antibodies directed against conformation-dependent epitopes. These findings suggest that the Gly31 to Arg31 mutant is involved in the insulin receptor dysfunction seen in the Leprechaun patient. The mutation seems to alter the conformation of the receptor in such way that the transport of the proreceptor to the Golgi compartment, where proteolytical processing occurs, is inhibited."xsd:string |
| http://purl.uniprot.org/citations/1730625 | http://purl.org/dc/terms/identifier | "doi:10.1016/s0021-9258(18)48459-1"xsd:string |
| http://purl.uniprot.org/citations/1730625 | http://purl.org/dc/terms/identifier | "doi:10.1016/s0021-9258(18)48459-1"xsd:string |
| http://purl.uniprot.org/citations/1730625 | http://purl.uniprot.org/core/author | "Maassen J.A."xsd:string |
| http://purl.uniprot.org/citations/1730625 | http://purl.uniprot.org/core/author | "Maassen J.A."xsd:string |
| http://purl.uniprot.org/citations/1730625 | http://purl.uniprot.org/core/author | "Lindhout D."xsd:string |
| http://purl.uniprot.org/citations/1730625 | http://purl.uniprot.org/core/author | "Lindhout D."xsd:string |
| http://purl.uniprot.org/citations/1730625 | http://purl.uniprot.org/core/author | "Moeller W."xsd:string |
| http://purl.uniprot.org/citations/1730625 | http://purl.uniprot.org/core/author | "Moeller W."xsd:string |
| http://purl.uniprot.org/citations/1730625 | http://purl.uniprot.org/core/author | "Krans H.M.J."xsd:string |
| http://purl.uniprot.org/citations/1730625 | http://purl.uniprot.org/core/author | "Krans H.M.J."xsd:string |
| http://purl.uniprot.org/citations/1730625 | http://purl.uniprot.org/core/author | "van der Vorm E.R."xsd:string |
| http://purl.uniprot.org/citations/1730625 | http://purl.uniprot.org/core/author | "van der Vorm E.R."xsd:string |
| http://purl.uniprot.org/citations/1730625 | http://purl.uniprot.org/core/author | "van der Zon G.C.M."xsd:string |
| http://purl.uniprot.org/citations/1730625 | http://purl.uniprot.org/core/author | "van der Zon G.C.M."xsd:string |
| http://purl.uniprot.org/citations/1730625 | http://purl.uniprot.org/core/date | "1992"xsd:gYear |
| http://purl.uniprot.org/citations/1730625 | http://purl.uniprot.org/core/date | "1992"xsd:gYear |
| http://purl.uniprot.org/citations/1730625 | http://purl.uniprot.org/core/name | "J. Biol. Chem."xsd:string |
| http://purl.uniprot.org/citations/1730625 | http://purl.uniprot.org/core/name | "J. Biol. Chem."xsd:string |
| http://purl.uniprot.org/citations/1730625 | http://purl.uniprot.org/core/pages | "66-71"xsd:string |
| http://purl.uniprot.org/citations/1730625 | http://purl.uniprot.org/core/pages | "66-71"xsd:string |
| http://purl.uniprot.org/citations/1730625 | http://purl.uniprot.org/core/title | "An Arg for Gly substitution at position 31 in the insulin receptor, linked to insulin resistance, inhibits receptor processing and transport."xsd:string |
| http://purl.uniprot.org/citations/1730625 | http://purl.uniprot.org/core/title | "An Arg for Gly substitution at position 31 in the insulin receptor, linked to insulin resistance, inhibits receptor processing and transport."xsd:string |