ABCMdb

PMID: 14667841

Boraldi F, Quaglino D, Croce MA, Garcia Fernandez MI, Tiozzo R, Gheduzzi D, Bacchelli B, Pasquali Ronchetti I
Multidrug resistance protein-6 (MRP6) in human dermal fibroblasts. Comparison between cells from normal subjects and from Pseudoxanthoma elasticum patients.
Matrix Biol. 2003 Nov;22(6):491-500., [PubMed]

Sentences

No. Mutations Sentence Comment

3 ABCC6 p.Arg1141* In vitro dermal fibroblasts from normal and PXE subjects, homozygous for the R1141X mutation, were compared for their ability to accumulate and to release fluorescent calcein, in the absence and in the presence of inhibitors and competitors of the MDR-multidrug resistance protein (MRP) systems, such as 3-(3-(2-(7-choro-2 quinolinyl) ethenyl)phenyl ((3-dimethyl amino-3-oxo-propyl)thio) methyl) propanoic acid (MK571), verapamil (VPL), vinblastine (VBL), chlorambucil (CHB), benzbromarone (BNZ) and indomethacin (IDM). Login to comment 33 ABCC6 p.Arg1141* We compared the efficiency of the MDRyMRP system of normal fibroblasts with that of fibroblasts from PXE patients homozygous for the nucleotide change 3421 C™T in exon 24 of the ABCC6 gene resulting in the creation of a premature stop codon at R1141X (Le Saux et al., 2000, 2001). Login to comment 92 ABCC6 p.Arg1141* Only fibroblasts from patients homozygous for the R1141X mutation were used in the present study. Login to comment 112 ABCC6 p.Arg1141* Therefore, MRP6 deficiency, due to the R1141X mutation, induces fibroblasts to accumulate calcein in higher amount and to release it in a time 25% longer than normal cells. Login to comment 149 ABCC6 p.Arg1141* Patients were homozygous for the mutation R1141X (see further for details) showing no detectable mRNA for MRP6 (Le Saux et al., 2000). Login to comment 160 ABCC6 p.Arg1141* R1141X mutation identification Genomic DNA was isolated from blood leukocytes of PXE patients and purified with a QIAamp blood kit (Qiagen), according to standard procedures. Login to comment