GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients.

ABSTRACT:

Background

Mutations in PMM2 impair phosphomannomutase-2 activity and cause the most frequent congenital disorder of glycosylation, PMM2-CDG. Mannose-1-phosphate, that is deficient in this disorder, is also implicated in the biosynthesis of glycosylphosphatidyl inositol (GPI) anchors.

Objective

To evaluate whether GPI-anchor and GPI-anchored proteins are defective in PMM2-CDG patients.

Methods

The expression of GPI-anchor and seven GPI-anchored proteins was evaluated by flow cytometry in different cell types from twelve PMM2-CDG patients. Additionally, neutrophil CD16 and plasma hepatic proteins were studied by Western blot. Transferrin glycoforms were evaluated by HPLC.

Results

Patients and controls had similar surface expression of GPI-anchor and most GPI-anc

SUBMITTER: de la Morena-Barrio ME 

PROVIDER: S-EPMC4016514 | biostudies-literature | 2013 Oct

REPOSITORIES: biostudies-literature