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Mannose-1-phosphate, that is deficient in this disorder, is also implicated in the biosynthesis of glycosylphosphatidyl inositol (GPI) anchors.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>To evaluate whether GPI-anchor and GPI-anchored proteins are defective in PMM2-CDG patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Patients and controls had similar surface expression of GPI-anchor and most GPI-anchored proteins. Nevertheless, patients displayed a significantly diminished binding of two anti-CD16 antibodies (3G8 and KD1) to neutrophils and also of anti-CD14 (61D3) to monocytes. Interestingly, CD16 immunostaining and asialotransferrin levels significantly correlated with patients\u2019 age. Analysis by flow cytometry of CD14 with M\u03a6P9, and CD16 expression in neutrophils by Western blot using H-80 ruled out deficiencies of these antigens.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p><jats:italic>PMM2<\/jats:italic>mutations do not impair GPI-anchor or GPI-anchored protein expression. However, the glycosylation anomalies caused by<jats:italic>PMM2<\/jats:italic>mutations might affect the immunoreactivity of monoclonal antibodies and lead to incorrect conclusions about the expression of different proteins, including GPI-anchored proteins. Neutrophils and monocytes are sensitive to<jats:italic>PMM2<\/jats:italic>mutations, leading to abnormal glycosylation in immune receptors, which might potentially affect their affinity to their ligands, and contribute to infection. This study also confirms less severe hypoglycosylation defects in older PMM2-CDG patients.<\/jats:p><\/jats:sec>","DOI":"10.1186\/1750-1172-8-170","type":"journal-article","created":{"date-parts":[[2013,10,20]],"date-time":"2013-10-20T17:01:07Z","timestamp":1382288467000},"update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients"],"prefix":"10.1186","volume":"8","author":[{"given":"Maria E","family":"de la Morena-Barrio","sequence":"first","affiliation":[]},{"given":"Trinidad","family":"Hern\u00e1ndez-Caselles","sequence":"additional","affiliation":[]},{"given":"Javier","family":"Corral","sequence":"additional","affiliation":[]},{"given":"Roberto","family":"Garc\u00eda-L\u00f3pez","sequence":"additional","affiliation":[]},{"given":"Irene","family":"Mart\u00ednez-Mart\u00ednez","sequence":"additional","affiliation":[]},{"given":"Belen","family":"P\u00e9rez-Due\u00f1as","sequence":"additional","affiliation":[]},{"given":"Carmen","family":"Altisent","sequence":"additional","affiliation":[]},{"given":"Teresa","family":"Sevivas","sequence":"additional","affiliation":[]},{"given":"Soren R","family":"Kristensen","sequence":"additional","affiliation":[]},{"given":"Encarna","family":"Guill\u00e9n-Navarro","sequence":"additional","affiliation":[]},{"given":"Antonia","family":"Mi\u00f1ano","sequence":"additional","affiliation":[]},{"given":"Vicente","family":"Vicente","sequence":"additional","affiliation":[]},{"given":"Jaak","family":"Jaeken","sequence":"additional","affiliation":[]},{"given":"Maria L","family":"Lozano","sequence":"additional","affiliation":[]}],"member":"297","published-online":{"date-parts":[[2013,10,20]]},"reference":[{"key":"666_CR1","first-page":"1306","volume":"2012","author":"T Hennet","year":"1820","unstructured":"Hennet T: Diseases of glycosylation beyond classical congenital disorders of glycosylation. 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