ABCMdb

PMID: 20226001

Ostuni A, Miglionico R, Bisaccia F, Castiglione Morelli MA
Biochemical characterization and NMR study of the region E748-A785 of the human protein MRP6/ABCC6.
Protein Pept Lett. 2010 Jul;17(7):861-6., [PubMed]

Sentences

No. Mutations Sentence Comment

5 ABCC6 p.Arg765Gln With the aim to better characterize MRP6, we have performed a preliminary study on the fragment E748-A785 of MRP6-NBD1, with the wild type sequence and the R765Q mutation found in PXE affected patients. Login to comment 29 ABCC6 p.Arg765Gln Here we present a fluorescence, CD and NMR spectroscopic study on a 38-amino acid fragment of the NBD1 region of MRP6, corresponding to residues E748-A785, containing both the wild type sequence and the R765Q mutation found in PXE affected patients [6]. Login to comment 110 ABCC6 p.Arg765Gln In the present work two peptides corresponding to residues from E748 to A785 of MRP6, respectively, with the wild type sequence and the R765Q mutation, identified for the first time in exon 18 of PXE affected patients [22], were studied by different spectroscopic techniques. Login to comment 111 ABCC6 p.Arg765Gln The R765Q mutation does not seem to affect the structure or the nucleotide binding. Login to comment 114 ABCC6 p.Arg765Gln This result suggests that the loss of activity of the R765Q mutated MRP6 and the subsequent development of the PXE phenotype would be due to different kind of interactions of the mutated residue inside the protein. Login to comment