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Dissecting the transcriptional program of phosphomannomutase 2-deficient cells: Lymphoblastoide B cell lines as a valuable model for congenital disorders of glycosylation studies

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dc.contributor.authorParrado, Antonio
dc.contributor.authorSerrano, Mercedes
dc.contributor.authorDe la Morena-Barrio, María Eugenia
dc.contributor.authorIbáñez-Micó, Salvador
dc.contributor.authorRuiz-Lafuente, Natalia
dc.contributor.authorSchwartz-Albiez, Reinhard
dc.contributor.authorEsteve-Solé, Ana
dc.contributor.authorAlsina, Laia
dc.contributor.authorCorral, Javier
dc.contributor.authorHernández Caselles, Trinidad
dc.contributor.authorRubio Pedraza, Gonzalo
dc.contributor.departmentBioquímica y Biología Molecular B e Inmunología
dc.date.accessioned2024-02-07T12:27:27Z
dc.date.available2024-02-07T12:27:27Z
dc.date.issued2022
dc.description©<2022>. This manuscript version is made available under the CC-BY-NC 4.0 license http://creativecommons.org/licenses/by-nc-nd/4.0/ This document is the, Accepted, version of a Published Work that appeared in final form in Glycobiology. To access the final edited and published work see: https://doi.org/10.1093/glycob/cwab087
dc.description.abstractCongenital disorders of glycosylation (CDG) include 150 disorders constituting in genetically and clinically heterogeneous diseases, showing significant glycoprotein hypoglycosylation that leads to pathological consequences on multiple organs and systems whose underlying mechanisms are not yet understood. A few cellular and animal models have been used to study specific CDG characteristics, although they have given limited information due to the few CDG mutations tested and the still missing comprehensive molecular and cellular basic research. Here, we provide specific gene expression profiles, based on ribonucleic acid (RNA) microarray analysis, together with some biochemical and cellular characteristics of a total of nine control Epstein– Barr virus-transformed lymphoblastoid B cell lines (B-LCL) and 13 CDG B-LCL from patients carrying severe mutations in the phosphomannomutase 2 (PMM2) gene, strong serum protein hypoglycosylation and neurological symptoms. Significantly dysregulated genes in PMM2-CDG cells included those regulating stress responses, transcription factors, glycosylation, motility, cell junction and, importantly, those related to development and neuronal differentiation and synapse, such as carbonic anhydrase 2 (CA2) and ADAM23. PMM2-CDG-associated biological consequences involved the unfolded protein response, RNA metabolism and the endoplasmic reticulum, Golgi apparatus and mitochondria components. Changes in the transcriptional and CA2 protein levels are consistent with the CDG physiopathology. These results demonstrate the global transcriptional impact in phosphomannomutase 2-deficient cells, reveal CA2 as a potential cellular biomarker and confirm B-LCL as an advantageous model for CDG studies.es
dc.formatapplication/pdfes
dc.format.extent17es
dc.identifier.citationGlicobiology 2022, Volumen: 32, Número: 2, Páginas: 84-100
dc.identifier.doihttps://doi.org/10.1093/glycob/cwab087
dc.identifier.issnPrint: 0959-6658
dc.identifier.issnElectronic: 1460-2423
dc.identifier.urihttp://hdl.handle.net/10201/138886
dc.languageenges
dc.publisherOxford University Presses
dc.relation1) Fundación MEHUER (Medicamentos Huerfanos y Enfermedades Raras, Ayuda Santiago Grisolýa 2016), Sevilla (Spain) . 2) University of 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.subjectB-lymphoblastoid cellsen
dc.subjectCA2en
dc.subjectCongenital disorders of glycosylationen
dc.subjectGene expression profileen
dc.subjectPMM2-CDGen
dc.subject.otherCDU::5 - Ciencias puras y naturaleses
dc.titleDissecting the transcriptional program of phosphomannomutase 2-deficient cells: Lymphoblastoide B cell lines as a valuable model for congenital disorders of glycosylation studieses
dc.typeinfo:eu-repo/semantics/articlees
dspace.entity.typePublicationes
relation.isAuthorOfPublicationc0416b92-3bd1-4c0a-bd7c-df5ae58f3f63
relation.isAuthorOfPublicationb702075e-25b7-4186-b26d-5fdbbc0fd694
relation.isAuthorOfPublication.latestForDiscoveryc0416b92-3bd1-4c0a-bd7c-df5ae58f3f63
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