ABCA1 p.Gln2239Asn
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PMID: 23087442
[PubMed]
Sorrenson B et al: "Functional rescue of mutant ABCA1 proteins by sodium 4-phenylbutyrate."
No.
Sentence
Comment
16
Nine different ABCA1 mutants (p.A594T, p.I659V, p.R1068H, p.T1512M, p.Y1767D, p.N1800H, p.R2004K, p.A2028V, p.Q2239N) expressed in HEK293 cells, displaying different degrees of mislocalization to the plasma membrane and discrete impacts on cholesterol efflux, were subject to treatment with 4-PBA.
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ABCA1 p.Gln2239Asn 23087442:16:110
status: NEW54 We identified a further three novel mutations, p.A594T, p.Y1767D, and p.Q2239N, and these were also included in this study. We hypothesized that efflux function would be improved for mutants that are dysfunctional as a result of protein mislocation.
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ABCA1 p.Gln2239Asn 23087442:54:72
status: NEW73 Both media were RESULTS ABCA1 mutants with impaired localization have reduced cholesterol efflux function We identified three novel ABCA1 variants, p.A594T, p.Y1767D, and p.Q2239N, in heterozygote form in three individuals with HDL-C levels of 0.61, 0.17, and 0.37 mmol/L, respectively.
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ABCA1 p.Gln2239Asn 23087442:73:176
status: NEW81 The p.Q2239N mutation did not affect plasma localization or cholesterol efflux function.
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ABCA1 p.Gln2239Asn 23087442:81:6
status: NEW