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PMID: 21554545
Nagao K, Tomioka M, Ueda K
Function and regulation of ABCA1--membrane meso-domain organization and reorganization.
FEBS J. 2011 Sep;278(18):3190-203. doi: 10.1111/j.1742-4658.2011.08170.x. Epub 2011 Jun 13.,
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
80
ABCA1 p.Cys1477Arg
X
ABCA1 p.Cys1477Arg 21554545:80:33
status:
NEW
view ABCA1 p.Cys1477Arg details
This group is represented by the
C1477R
mutant of the second ECD (Table 2).
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81
ABCA1 p.Cys1477Arg
X
ABCA1 p.Cys1477Arg 21554545:81:9
status:
NEW
view ABCA1 p.Cys1477Arg details
Although
C1477R
mutant is expressed in the plasma membrane like wild-type ABCA1, apoA-I binding is abolished [9,10,49,50].
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82
ABCA1 p.Trp590Ser
X
ABCA1 p.Trp590Ser 21554545:82:79
status:
NEW
view ABCA1 p.Trp590Ser details
The third group is the 'lipid translocation defect mutant`, represented by the
W590S
mutation in the first ECD of ABCA1 (Table 2).
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83
ABCA1 p.Trp590Ser
X
ABCA1 p.Trp590Ser 21554545:83:33
status:
NEW
view ABCA1 p.Trp590Ser details
The subcellular distribution of
W590S
is indistinguishable from that of wild-type ABCA1.
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84
ABCA1 p.Trp590Ser
X
ABCA1 p.Trp590Ser 21554545:84:13
status:
NEW
view ABCA1 p.Trp590Ser details
ABCA1 p.Trp590Ser
X
ABCA1 p.Trp590Ser 21554545:84:82
status:
NEW
view ABCA1 p.Trp590Ser details
Furthermore,
W590S
mutation does not affect apoA-I binding [9,10,49,50]; however,
W590S
mutation reduced phosphatidylserine (PS) flopping activity of ABCA1, detected with the annexin V binding assay [49], and impaired sodium taurocholate-dependent cholesterol and phospholipid efflux by ABCA1 [51].
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85
ABCA1 p.Trp590Ser
X
ABCA1 p.Trp590Ser 21554545:85:27
status:
NEW
view ABCA1 p.Trp590Ser details
These results suggest that
W590S
mutation affects the lipid translocation activity of ABCA1 and that the two activities of ABCA1 (apoA-I binding and lipid translocation) can be separable (Fig. 3A).
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86
ABCA1 p.Trp590Ser
X
ABCA1 p.Trp590Ser 21554545:86:14
status:
NEW
view ABCA1 p.Trp590Ser details
Additionally,
W590S
mutation retarded the dissociation of apoA-I from ABCA1 [51].
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