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PMID: 14701824
Haidar B, Denis M, Marcil M, Krimbou L, Genest J Jr
Apolipoprotein A-I activates cellular cAMP signaling through the ABCA1 transporter.
J Biol Chem. 2004 Mar 12;279(11):9963-9. Epub 2003 Dec 29.,
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
9
ABCA1 p.Cys1477Arg
X
ABCA1 p.Cys1477Arg 14701824:9:72
status:
NEW
view ABCA1 p.Cys1477Arg details
Naturally occurring mutations of ABCA1 associated with Tangier disease (
C1477R
, 2203X, and 2145X) severely reduced apoA-I-mediated cAMP production, ABCA1 phosphorylation, 125 I-apoA-I binding, and lipid efflux, without affecting forskolin-mediated cAMP elevation.
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153
ABCA1 p.Cys1477Arg
X
ABCA1 p.Cys1477Arg 14701824:153:4
status:
NEW
view ABCA1 p.Cys1477Arg details
The
C1477R
(TD-1) mutant showed decreased presence at the plasma membrane, relative to the normal transporter (50% or greater reduction); however, the 2154X (TD-3) mutant failed to reach the membrane.
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154
ABCA1 p.Cys1477Arg
X
ABCA1 p.Cys1477Arg 14701824:154:4
status:
NEW
view ABCA1 p.Cys1477Arg details
The
C1477R
(TD-1) mutant showed decreased presence at the plasma membrane, relative to the normal transporter (50% or greater reduction); however, the 2154X (TD-3) mutant failed to reach the membrane.
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198
ABCA1 p.Cys1477Arg
X
ABCA1 p.Cys1477Arg 14701824:198:146
status:
NEW
view ABCA1 p.Cys1477Arg details
On the other hand, we have documented previously (8) that 8-Br-cAMP and FRK did not induce ABCA1 phosphorylation in intact fibroblasts from TD-1 (
C1477R
) as compared with normal cells.
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200
ABCA1 p.Cys1477Arg
X
ABCA1 p.Cys1477Arg 14701824:200:146
status:
NEW
view ABCA1 p.Cys1477Arg details
On the other hand, we have documented previously (8) that 8-Br-cAMP and FRK did not induce ABCA1 phosphorylation in intact fibroblasts from TD-1 (
C1477R
) as compared with normal cells.
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206
ABCA1 p.Cys1477Arg
X
ABCA1 p.Cys1477Arg 14701824:206:66
status:
NEW
view ABCA1 p.Cys1477Arg details
A, fibroblasts from a normal control (CTR) and TD subjects (TD-1 (
C1477R
), TD-2 (2203X), and TD-3 (2145X)) (Table I) were stimulated, and ABCA1 was immunoprecipitated and incubated with [ॹ-32 P]ATP in the absence or presence of the PKA catalytic subunit (PKA-c) as described under "Experimental Procedures."
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208
ABCA1 p.Cys1477Arg
X
ABCA1 p.Cys1477Arg 14701824:208:66
status:
NEW
view ABCA1 p.Cys1477Arg details
A, fibroblasts from a normal control (CTR) and TD subjects (TD-1 (
C1477R
), TD-2 (2203X), and TD-3 (2145X)) (Table I) were stimulated, and ABCA1 was immunoprecipitated and incubated with [␥-32 P]ATP in the absence or presence of the PKA catalytic subunit (PKA-c) as described under "Experimental Procedures."
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