| http://purl.uniprot.org/citations/10887099 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10887099 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10887099 | http://www.w3.org/2000/01/rdf-schema#comment | "Megaloblastic anemia 1 (MGA1) is an autosomal recessive disorder caused by the selective intestinal malabsorption of intrinsic factor (IF) and vitamin B(12)/cobalamin (Cbl) in complex. Most Finnish patients with MGA1 carry the disease-specific P1297L mutation (FM1) in the IF-B(12) receptor, cubilin. By site-directed mutagenesis, mammalian expression, and functional comparison of the purified wild-type and FM1 mutant forms of the IF-Cbl-binding cubilin region (CUB domains 5-8, amino acid 928-1386), we have investigated the functional implications of the P1297L mutation. Surface plasmon resonance analysis revealed that the P1297L substitution specifically increases the K(d) for IF-Cbl binding several-fold, largely by decreasing the association rate constant. In agreement with the binding data, the wild-type protein, but not the FM1 mutant protein, potently inhibits 37 degrees C uptake of iodine 125-IF-Cbl in cubilin-expressing epithelial cells. In conclusion, the data presented show a substantial loss in affinity of the FM1 mutant form of the IF-Cbl binding region of cubilin. This now explains the malabsorption of Cbl and Cbl-dependent anemia in MGA1 patients with the FM1 mutation. (Blood. 2000;96:405-409)"xsd:string |
| http://purl.uniprot.org/citations/10887099 | http://purl.uniprot.org/core/author | "Jacobsen C."xsd:string |
| http://purl.uniprot.org/citations/10887099 | http://purl.uniprot.org/core/author | "Jacobsen C."xsd:string |
| http://purl.uniprot.org/citations/10887099 | http://purl.uniprot.org/core/author | "Aminoff M."xsd:string |
| http://purl.uniprot.org/citations/10887099 | http://purl.uniprot.org/core/author | "Aminoff M."xsd:string |
| http://purl.uniprot.org/citations/10887099 | http://purl.uniprot.org/core/author | "Moestrup S.K."xsd:string |
| http://purl.uniprot.org/citations/10887099 | http://purl.uniprot.org/core/author | "Moestrup S.K."xsd:string |
| http://purl.uniprot.org/citations/10887099 | http://purl.uniprot.org/core/author | "Krahe R."xsd:string |
| http://purl.uniprot.org/citations/10887099 | http://purl.uniprot.org/core/author | "Krahe R."xsd:string |
| http://purl.uniprot.org/citations/10887099 | http://purl.uniprot.org/core/author | "de La Chapelle A."xsd:string |
| http://purl.uniprot.org/citations/10887099 | http://purl.uniprot.org/core/author | "de La Chapelle A."xsd:string |
| http://purl.uniprot.org/citations/10887099 | http://purl.uniprot.org/core/author | "Kristiansen M."xsd:string |
| http://purl.uniprot.org/citations/10887099 | http://purl.uniprot.org/core/author | "Kristiansen M."xsd:string |
| http://purl.uniprot.org/citations/10887099 | http://purl.uniprot.org/core/author | "Verroust P.J."xsd:string |
| http://purl.uniprot.org/citations/10887099 | http://purl.uniprot.org/core/author | "Verroust P.J."xsd:string |
| http://purl.uniprot.org/citations/10887099 | http://purl.uniprot.org/core/date | "2000"xsd:gYear |
| http://purl.uniprot.org/citations/10887099 | http://purl.uniprot.org/core/date | "2000"xsd:gYear |
| http://purl.uniprot.org/citations/10887099 | http://purl.uniprot.org/core/name | "Blood"xsd:string |
| http://purl.uniprot.org/citations/10887099 | http://purl.uniprot.org/core/name | "Blood"xsd:string |
| http://purl.uniprot.org/citations/10887099 | http://purl.uniprot.org/core/pages | "405-409"xsd:string |
| http://purl.uniprot.org/citations/10887099 | http://purl.uniprot.org/core/pages | "405-409"xsd:string |
| http://purl.uniprot.org/citations/10887099 | http://purl.uniprot.org/core/title | "Cubilin P1297L mutation associated with hereditary megaloblastic anemia 1 causes impaired recognition of intrinsic factor-vitamin B(12) by cubilin."xsd:string |
| http://purl.uniprot.org/citations/10887099 | http://purl.uniprot.org/core/title | "Cubilin P1297L mutation associated with hereditary megaloblastic anemia 1 causes impaired recognition of intrinsic factor-vitamin B(12) by cubilin."xsd:string |