Publication:
GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients

Simple item page
dc.contributor.authorMorena-Barrio, María Eugenia de la
dc.contributor.authorCorral, Javier
dc.contributor.authorGarcía-López, Roberto
dc.contributor.authorMartínez-Martínez, Irene
dc.contributor.authorPérez-Dueñas, Belén
dc.contributor.authorAltisent, Carmen
dc.contributor.authorSevivas, Teresa
dc.contributor.authorKristensen, Soren
dc.contributor.authorGuillén-Navarro, Encarna
dc.contributor.authorMiñano, Antonia
dc.contributor.authorVicente, Vicente
dc.contributor.authorJaeken, Jaak
dc.contributor.authorLozano, María Luisa
dc.contributor.authorHernández Caselles, Trinidad
dc.contributor.departmentMedicina
dc.date.accessioned2024-02-07T12:40:58Z
dc.date.available2024-02-07T12:40:58Z
dc.date.issued2013
dc.description© 2013 de la Morena-Barrio et al.; licensee BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited
dc.description.abstractBackground: 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-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' age. Analysis by flow cytometry of CD14 with MΦP9, and CD16 expression in neutrophils by Western blot using H-80 ruled out deficiencies of these antigens. Conclusions: PMM2 mutations do not impair GPI-anchor or GPI-anchored protein expression. However, the glycosylation anomalies caused by PMM2 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 PMM2 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.es
dc.formatapplication/pdfes
dc.format.extent10es
dc.identifier.citationOrphanet Journal of Rare Diseases 2013, 8:170.
dc.identifier.doihttps://doi.org/10.1186/1750-1172-8-170
dc.identifier.issnElectronic: 1750-1172
dc.identifier.urihttp://hdl.handle.net/10201/138891
dc.languageenges
dc.relationÁmbito internacional. This study was supported by grants PI12/00657 (ISCIII & FEDER) and RD12/0042/0050 (ISCIII & FEDER). ME de la M-B is a holder of a predoctoral research grant from ISCIII. IM-M is a researcher from “Fundación para la Formación e Investigación Sanitarias de la Región de Murcia”.es
dc.rightsinfo:eu-repo/semantics/openAccesses
dc.rightsAttribution-NonCommercial-NoDerivatives 4.0 Internacional*
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/*
dc.subjectPMM2-CDGen
dc.subjectN-glycosylation defectsen
dc.subjectGPI-anchor and GPI-anchored proteinsen
dc.titleGPI-anchor and GPI-anchored protein expression in PMM2-CDG patientses
dc.typeinfo:eu-repo/semantics/articlees
dspace.entity.typePublicationes
relation.isAuthorOfPublicationc0416b92-3bd1-4c0a-bd7c-df5ae58f3f63
relation.isAuthorOfPublication.latestForDiscoveryc0416b92-3bd1-4c0a-bd7c-df5ae58f3f63
Files
Original bundle
Now showing 1 - 1 of 1
Thumbnail Image
Name:
GPIs.pdf
Size:
1.12 MB
Format:
Adobe Portable Document Format
Description:
GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients
Download
License bundle
Now showing 1 - 1 of 1
Thumbnail Image
Name:
license.txt
Size:
2.26 KB
Format:
Item-specific license agreed upon to submission
Description:
Download
Collections
Artículos