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PMID: 16897043
Bryan J, Munoz A, Zhang X, Dufer M, Drews G, Krippeit-Drews P, Aguilar-Bryan L
ABCC8 and ABCC9: ABC transporters that regulate K+ channels.
Pflugers Arch. 2007 Feb;453(5):703-18. Epub 2006 Aug 8.,
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
141
ABCC8 p.His1023Tyr
X
ABCC8 p.His1023Tyr 16897043:141:48
status:
NEW
view ABCC8 p.His1023Tyr details
ABCC8 p.Ile1424Val
X
ABCC8 p.Ile1424Val 16897043:141:38
status:
NEW
view ABCC8 p.Ile1424Val details
Analysis of two SUR1 mutant channels,
I1424V
or
H1023Y
, demonstrated they were more active than wild-type channels both in on-cell recordings from intact mammalian cells and in isolated patches exposed to a quasiphysiologic concentration of MgATP (1 mM).
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142
ABCC8 p.His1023Tyr
X
ABCC8 p.His1023Tyr 16897043:142:212
status:
NEW
view ABCC8 p.His1023Tyr details
ABCC8 p.Ile1424Val
X
ABCC8 p.Ile1424Val 16897043:142:202
status:
NEW
view ABCC8 p.Ile1424Val details
In the absence of Mg2+ , when the stimulatory action of SUR1 on the pore was abolished, there was no significant difference in the ATP inhibitory curves of mutant and wild-type channels, indicating the
I1424V
or
H1023Y
receptors exert an enhanced stimulatory action on the pore.
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143
ABCC8 p.His1023Tyr
X
ABCC8 p.His1023Tyr 16897043:143:76
status:
NEW
view ABCC8 p.His1023Tyr details
The simulation of heterozygosity by expression of 1:1 mixtures of ND-SUR1
H1023Y
and wild-type SUR1 with KIR6.2 produced average mean channel activities intermediate between the "homozygous" mutant and wild-type channels.
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