PMID: 24479134

Brampton C, Aherrahrou Z, Chen LH, Martin L, Bergen AA, Gorgels TG, Erdmann J, Schunkert H, Szabo Z, Varadi A, Le Saux O
The level of hepatic ABCC6 expression determines the severity of calcification after cardiac injury.
Am J Pathol. 2014 Jan;184(1):159-70., [PubMed]
Sentences
No. Mutations Sentence Comment
117 ABCC6 p.Val1298Phe
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ABCC6 p.Val1298Phe 24479134:117:118
status: NEW
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 We also compared the cryoinjury calcification after the transient expression of the WT ABCC6 and the inactive mutant, V1298F, for various control mice and at 4 weeks after injury. Login to comment 136 ABCC6 p.Val1298Phe
X
ABCC6 p.Val1298Phe 24479134:136:212
status: NEW
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 To firmly attribute the reduction of calcification to ABCC6 function, we repeated the cryoinjury procedure with Abcc6/ mice subjected to HTVI with a plasmid carrying the human ABCC6 cDNA with the PXE-causing p.V1298F mutation.7 We have previously found this mutant to be transport inactive but fully integrated to the plasma membrane.34 As expected, the high calcification ratio was similar to the non-treated Abcc6/ mice (Figure 3A), indicating that the calcification rescue was, in fact, due to a functional human ABCC6. Login to comment