| http://purl.uniprot.org/citations/2512329 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/2512329 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/2512329 | http://www.w3.org/2000/01/rdf-schema#comment | "Six unrelated families with genetically determined structural variants of apo A-I were found in the course of an electrophoretic screening program for apo A-I variants in dried blood samples of newborns. The following structural variations were identified by the combined use of HPLC, time-of-flight secondary ion mass spectrometry (TOF-SIMS), and automated gas phase sequencing: Pro3----Arg (1x), Pro4----Arg (1x), and Pro165----Arg (4x). All variant carriers were heterozygous for their mutant of apo A-I. Subjects heterozygous for apo A-I(Pro165----Arg) (n = 12) were found to exhibit lower mean values for apo A-I (109 +/-16 mg/dl) and HDL cholesterol (37 +/-9 mg/dl) than unaffected family members (n = 9): 176 +/- 41 and 64 +/-18 mg/dl, respectively (P less than 0.001). In 9 of 12 apo A-I(Pro165----Arg) variant carriers the concentrations of apo A-I were below the fifth percentile of sex-matched controls. By two-dimensional immunoelectrophoresis as well as by densitometry the relative concentration of the variant apo A-I in heterozygous carriers of apo A-I(Pro165----Arg) was determined to account for only 30% of the total plasma apo A-I mass instead of the expected 50%. Thus, the observed apo A-I deficiency may be largely a consequence of the decreased concentration of the variant apo A-I. In the case of the apo A-I(Pro3----Arg) mutant, densitometry of HDL apolipoproteins demonstrated a distinctly increased concentration of the variant proapo A-I relative to normal proapo A-I. This phenomenon was not observed in the apo A-I(Pro4----Arg) mutant or in other mutants. This suggests that the interspecies conserved proline residue in position 3 of mature apo A-I is functionally important for the regular enzymatic conversion of proapo A-I to mature apo A-I."xsd:string |
| http://purl.uniprot.org/citations/2512329 | http://purl.org/dc/terms/identifier | "doi:10.1172/jci114355"xsd:string |
| http://purl.uniprot.org/citations/2512329 | http://purl.org/dc/terms/identifier | "doi:10.1172/jci114355"xsd:string |
| http://purl.uniprot.org/citations/2512329 | http://purl.uniprot.org/core/author | "Assmann G."xsd:string |
| http://purl.uniprot.org/citations/2512329 | http://purl.uniprot.org/core/author | "Assmann G."xsd:string |
| http://purl.uniprot.org/citations/2512329 | http://purl.uniprot.org/core/author | "Funke H."xsd:string |
| http://purl.uniprot.org/citations/2512329 | http://purl.uniprot.org/core/author | "Funke H."xsd:string |
| http://purl.uniprot.org/citations/2512329 | http://purl.uniprot.org/core/author | "Altland K."xsd:string |
| http://purl.uniprot.org/citations/2512329 | http://purl.uniprot.org/core/author | "Altland K."xsd:string |
| http://purl.uniprot.org/citations/2512329 | http://purl.uniprot.org/core/author | "Benninghoven A."xsd:string |
| http://purl.uniprot.org/citations/2512329 | http://purl.uniprot.org/core/author | "Benninghoven A."xsd:string |
| http://purl.uniprot.org/citations/2512329 | http://purl.uniprot.org/core/author | "Henke A."xsd:string |
| http://purl.uniprot.org/citations/2512329 | http://purl.uniprot.org/core/author | "Henke A."xsd:string |
| http://purl.uniprot.org/citations/2512329 | http://purl.uniprot.org/core/author | "Kock R."xsd:string |
| http://purl.uniprot.org/citations/2512329 | http://purl.uniprot.org/core/author | "Kock R."xsd:string |
| http://purl.uniprot.org/citations/2512329 | http://purl.uniprot.org/core/author | "Roetrige A."xsd:string |
| http://purl.uniprot.org/citations/2512329 | http://purl.uniprot.org/core/author | "Roetrige A."xsd:string |
| http://purl.uniprot.org/citations/2512329 | http://purl.uniprot.org/core/author | "Welp S."xsd:string |
| http://purl.uniprot.org/citations/2512329 | http://purl.uniprot.org/core/author | "Welp S."xsd:string |
| http://purl.uniprot.org/citations/2512329 | http://purl.uniprot.org/core/author | "von Eckardstein A."xsd:string |
| http://purl.uniprot.org/citations/2512329 | http://purl.uniprot.org/core/author | "von Eckardstein A."xsd:string |
| http://purl.uniprot.org/citations/2512329 | http://purl.uniprot.org/core/date | "1989"xsd:gYear |
| http://purl.uniprot.org/citations/2512329 | http://purl.uniprot.org/core/date | "1989"xsd:gYear |