ABCMdb

PMID: 15017358

Zannis VI, Chroni A, Kypreos KE, Kan HY, Cesar TB, Zanni EE, Kardassis D
Probing the pathways of chylomicron and HDL metabolism using adenovirus-mediated gene transfer.
Curr Opin Lipidol. 2004 Apr;15(2):151-66., [PubMed]

Sentences

No. Mutations Sentence Comment

191 ABCA1 p.Pro165Ala This analysis showed that mutations M1 (apoA-I [Pro165Ala/Gln172Glu]) and M2 (apoA-I[Glu234,235Ala/ Lys238,239Ala]), which do not affect the binding of apoA-I to HDL and the solubilization of multilamellar DMPC vesicles in vitro, are associated with high apoA-I and HDL levels in vivo. Login to comment 192 ABCA1 p.Leu222Lys Mutations M3 (apoA-I[Leu211,214,218,219Val]) and M4 (apoA-I [Leu222Lys/Phe225,229Lys]), which inhibit the binding of apoA-I to HDL and the solubilization of multilamellar DMPC vesicles in vitro, are associated with low HDL and apoA-I levels in vivo. Login to comment 228 ABCA1 p.Trp590Ser Previous cross-linking studies of ABCA1 mutants associated with Tangier disease showed that, with the exception of one mutant, namely ABCA1 [W590S], all other ABCA1 mutants failed to cross-link or cross-linked poorly with apoA-I [59]. Login to comment 229 ABCA1 p.Trp590Ser ABCA1 p.Trp590Ser Mutant apoA-I forms exhibited differences in binding to the wild-type ABCA1 and W590S mutant, indicating that the W590S mutation may have altered the environment in the binding site of ABCA1 [58.. ]. Login to comment 279 ABCA1 p.Trp590Ser Previous studies showed that an ABCA1 mutant, ABCA1[W590S], which has defective lipid efflux and causes Tangier disease [59], cross-links more efficiently to apoA-I than does wild-type ABCA1 at 378C. Login to comment 280 ABCA1 p.Trp590Ser Analysis of the dissociation of the complexes formed between apoA-I and ABCA1 showed that the rate of dissociation was similar for the wild-type ABCA1 and the ABCA1[W590S] mutant [63. Login to comment 282 ABCA1 p.Trp590Ser However, the apoA-I released from wild-type ABCA1 was bound to lipids, whereas the apoA-I released from ABCA1[W590S] was lipid-free [63. Login to comment 291 ABCA1 p.Trp590Ser It has been shown that wild-type and mutant forms of apoA-I cross-link with different efficiencies to wild-type ABCA1 and the W590S mutant, suggesting different environment in the active site of the wild-type and the mutant ABCA1 [58.. ]. Login to comment 292 ABCA1 p.Trp590Ser As a result of these differences, the wild-type apoA-I forms a complex with ABCA1[W590S] but is released lipid-free [63. Login to comment