ABCMdb

PMID: 24840500

Xue P, Crum CM, Thibodeau PH
Regulation of ABCC6 trafficking and stability by a conserved C-terminal PDZ-like sequence.
PLoS One. 2014 May 19;9(5):e97360. doi: 10.1371/journal.pone.0097360. eCollection 2014., [PubMed]

Sentences

No. Mutations Sentence Comment

115 ABCC6 p.Asn15Asp To further confirm these species were the result of changes in glycosylation, the single glycosylation site was mutated (N15D) and expressed. Login to comment 117 ABCC6 p.Asn15Asp Migration of the single N15D protein band was consistent with the fully deglycosylated protein, band A, in the wildtype ABCC6 expressing cells. Deletion of the six C-terminal amino acids (D6-COOH), which includes the complete PDZ ligands found in other ABCC family members, showed dramatic changes in both protein biosynthesis and protein trafficking as measured by western blotting (Figure 1C, D). Login to comment 135 ABCC6 p.Asn15Asp No observable changes in immunofluorescence were seen between the wildtype and N15D glycosylation mutant (data not shown). Login to comment 189 ABCC6 p.Gly1501Ser The PXE-associate G1501S site is highlighted in red. Login to comment 195 ABCC6 p.Asn15Asp The N15D substitution blocks N-linked glycosylation and is a reference for the unglycosylated wildtype and D6-COOH proteins. Login to comment 345 ABCC6 p.Gly1501Ser However, a single PXE patient in which the G1501S mutation was found was reported to show phenotypic abnormalities in the eye (bleeding/scarring) and mild presentation in the skin (papules/bumps), but presented without apparent GI, vascular or cardiac symptoms. Login to comment 430 ABCC6 p.Arg1141* Wegman JJ, Hu X, Tan H, Bergen AA, Trip MD, et al. (2005) Patients with premature coronary artery disease who carry the ABCC6 R1141X mutation have no Pseudoxanthoma Elasticum phenotype. Login to comment