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PMID: 24609033
Young JC
The role of the cytosolic HSP70 chaperone system in diseases caused by misfolding and aberrant trafficking of ion channels.
Dis Model Mech. 2014 Mar;7(3):319-29. doi: 10.1242/dmm.014001.,
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
141
ABCC7 p.Val510Asp
X
ABCC7 p.Val510Asp 24609033:141:105
status:
NEW
view ABCC7 p.Val510Asp details
However, ƊF508 CFTR trafficking was improved by DNAJB12 knockdown combined with another stabilizing
V510D
mutation within CFTR and a small-molecule stabilizer, Corrector-4 (Grove et al., 2011).
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