ABCA1 p.Ala1407Thr
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PMID: 22981231
[PubMed]
Smith B et al: "Anticancer Activity of the Cholesterol Exporter ABCA1 Gene."
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Comment
141
Two of the mutants (A1407T and A2109T) demonstrated a marked reduction in both cholesterol efflux and antitumor activity, while the other two mutants (E210D and D917Y) showed activity indistinguishable from the wild-type (wt) ABCA1 cDNA in both assays and in both human cancer cell lines used (Figure 4).
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ABCA1 p.Ala1407Thr 22981231:141:20
status: NEW142 Our data thus identify ABCA1 human colon cancer mutations A1407T and A2109T as loss-of-function mutations disabling both cholesterol efflux and antitumor activity.
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ABCA1 p.Ala1407Thr 22981231:142:58
status: NEW144 While expression of wt ABCA1 is strongly reduced following transplantation (see also Figure S1A for murine Abca1), expression of loss-of-function ABCA1 mutants A1407T and A2109T remains relatively unchanged, presumably because their antitumor activity is strongly diminished (Figure S4).
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ABCA1 p.Ala1407Thr 22981231:144:160
status: NEW