GALE variants associated with syndromic manifestations, macrothrombocytopenia, bleeding, and platelet dysfunction

GALE gene encodes the uridine diphosphate [UDP]-galactose-4-epimerase, which catalyzes the bidirectional interconversion of UDP-glucose to UDP-galactose, and UDP-N-acetyl-glucosamine to UDP-N-acetyl-galactosamine. In that way, GALE balances, through reversible epimerization, the pool of four sugars...

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Detalles Bibliográficos
Autores: Marín-Quilez, Ana, Buduo, Christian A. Di, Benito, Rocío, Balduini, Alessandra, Rivera, José, Bastida, José María
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2023
País:España
Institución:Consejo Superior de Investigaciones Científicas (CSIC)
Repositorio:DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:oai:digital.csic.es:10261/337610
Acceso en línea:http://hdl.handle.net/10261/337610
Access Level:acceso abierto
Palabra clave:Bleeding
GALE
Platelet disorder
Syndromic manifestations
Thrombocytopenia
UDP-galactose 4-epimerase
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spelling GALE variants associated with syndromic manifestations, macrothrombocytopenia, bleeding, and platelet dysfunctionMarín-Quilez, AnaBuduo, Christian A. DiBenito, RocíoBalduini, AlessandraRivera, JoséBastida, José MaríaBleedingGALEPlatelet disorderSyndromic manifestationsThrombocytopeniaUDP-galactose 4-epimeraseGALE gene encodes the uridine diphosphate [UDP]-galactose-4-epimerase, which catalyzes the bidirectional interconversion of UDP-glucose to UDP-galactose, and UDP-N-acetyl-glucosamine to UDP-N-acetyl-galactosamine. In that way, GALE balances, through reversible epimerization, the pool of four sugars that are essential during the biosynthesis of glycoproteins and glycolipids. GALE-related disorder presents an autosomal recessive inheritance pattern, and it is commonly associated with galactosemia. Peripheral galactosemia generally associates with non-generalized forms or even asymptomatic presentations, while classical galactosemia may be related to complications such as learning difficulties, developmental delay, cardiac failure, or dysmorphic features. Recently, GALE variants have been related to severe thrombocytopenia, pancytopenia, and in one patient, to myelodysplastic syndrome.This work was supported by grants from Instituto de Salud Carlos III (ISCIII) & Feder (PI20/00926) and co-funded by European Union (ERDF/ESF, “Investing in your future”), Gerencia Regional de Salud (GRS2314/A/2021, GRS2551/A/22), Fundación SéNeCa (21920/PI/22), Fundación Mutua Madrileña (FMM, AP172142019), Sociedad Española de Trombosis y Hemostasia (SETH-FETH; Ayuda a Grupos de Trabajo en Patología Hemorrágica 2021), and the European Commission (H2020-FETOPEN-1-2016-2017-SilkFusion ID 767309). The author´s research on Inherited Platelet Disorders is conducted in accordance with the aims of the multicentric project “Functional and Molecular Characterization of Patients with Inherited Platelet Disorders” of Grupo Español de Alteraciones Plaquetarias Congénitas (GEAPC). A.M.Q. is fully supported by a postdoctoral grant from Sociedad Española de Hematología y Hemoterapia (SEHH-FEHH).Peer reviewedTaylor & FrancisInstituto de Salud Carlos IIIEuropean CommissionFundación SénecaFundación Mutua MadrileñaSociedad Española de Trombosis y HemostasiaEuropean CommissionSociedad Española de Hematología y HemoterapiaConsejo Superior de Investigaciones Científicas [https://ror.org/02gfc7t72]2023202320232023info:eu-repo/semantics/articlehttp://purl.org/coar/resource_type/c_dcae04bcPublisher's versioninfo:eu-repo/semantics/publishedVersionhttp://hdl.handle.net/10261/337610reponame:DIGITAL.CSIC. Repositorio Institucional del CSICinstname:Consejo Superior de Investigaciones Científicas (CSIC)Inglés#PLACEHOLDER_PARENT_METADATA_VALUE#info:eu-repo/grantAgreement/EC/H2020/767309http://dx.doi.org/10.1080/09537104.2023.2176699Síinfo:eu-repo/semantics/openAccessoai:digital.csic.es:10261/3376102026-05-22T06:33:51Z
dc.title.none.fl_str_mv GALE variants associated with syndromic manifestations, macrothrombocytopenia, bleeding, and platelet dysfunction
title GALE variants associated with syndromic manifestations, macrothrombocytopenia, bleeding, and platelet dysfunction
spellingShingle GALE variants associated with syndromic manifestations, macrothrombocytopenia, bleeding, and platelet dysfunction
Marín-Quilez, Ana
Bleeding
GALE
Platelet disorder
Syndromic manifestations
Thrombocytopenia
UDP-galactose 4-epimerase
title_short GALE variants associated with syndromic manifestations, macrothrombocytopenia, bleeding, and platelet dysfunction
title_full GALE variants associated with syndromic manifestations, macrothrombocytopenia, bleeding, and platelet dysfunction
title_fullStr GALE variants associated with syndromic manifestations, macrothrombocytopenia, bleeding, and platelet dysfunction
title_full_unstemmed GALE variants associated with syndromic manifestations, macrothrombocytopenia, bleeding, and platelet dysfunction
title_sort GALE variants associated with syndromic manifestations, macrothrombocytopenia, bleeding, and platelet dysfunction
dc.creator.none.fl_str_mv Marín-Quilez, Ana
Buduo, Christian A. Di
Benito, Rocío
Balduini, Alessandra
Rivera, José
Bastida, José María
author Marín-Quilez, Ana
author_facet Marín-Quilez, Ana
Buduo, Christian A. Di
Benito, Rocío
Balduini, Alessandra
Rivera, José
Bastida, José María
author_role author
author2 Buduo, Christian A. Di
Benito, Rocío
Balduini, Alessandra
Rivera, José
Bastida, José María
author2_role author
author
author
author
author
dc.contributor.none.fl_str_mv Instituto de Salud Carlos III
European Commission
Fundación Séneca
Fundación Mutua Madrileña
Sociedad Española de Trombosis y Hemostasia
European Commission
Sociedad Española de Hematología y Hemoterapia
Consejo Superior de Investigaciones Científicas [https://ror.org/02gfc7t72]
dc.subject.none.fl_str_mv Bleeding
GALE
Platelet disorder
Syndromic manifestations
Thrombocytopenia
UDP-galactose 4-epimerase
topic Bleeding
GALE
Platelet disorder
Syndromic manifestations
Thrombocytopenia
UDP-galactose 4-epimerase
description GALE gene encodes the uridine diphosphate [UDP]-galactose-4-epimerase, which catalyzes the bidirectional interconversion of UDP-glucose to UDP-galactose, and UDP-N-acetyl-glucosamine to UDP-N-acetyl-galactosamine. In that way, GALE balances, through reversible epimerization, the pool of four sugars that are essential during the biosynthesis of glycoproteins and glycolipids. GALE-related disorder presents an autosomal recessive inheritance pattern, and it is commonly associated with galactosemia. Peripheral galactosemia generally associates with non-generalized forms or even asymptomatic presentations, while classical galactosemia may be related to complications such as learning difficulties, developmental delay, cardiac failure, or dysmorphic features. Recently, GALE variants have been related to severe thrombocytopenia, pancytopenia, and in one patient, to myelodysplastic syndrome.
publishDate 2023
dc.date.none.fl_str_mv 2023
2023
2023
2023
dc.type.none.fl_str_mv info:eu-repo/semantics/article
http://purl.org/coar/resource_type/c_dcae04bc
Publisher's version
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/10261/337610
url http://hdl.handle.net/10261/337610
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv #PLACEHOLDER_PARENT_METADATA_VALUE#
info:eu-repo/grantAgreement/EC/H2020/767309
http://dx.doi.org/10.1080/09537104.2023.2176699
Sí
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv Taylor & Francis
publisher.none.fl_str_mv Taylor & Francis
dc.source.none.fl_str_mv reponame:DIGITAL.CSIC. Repositorio Institucional del CSIC
instname:Consejo Superior de Investigaciones Científicas (CSIC)
instname_str Consejo Superior de Investigaciones Científicas (CSIC)
reponame_str DIGITAL.CSIC. Repositorio Institucional del CSIC
collection DIGITAL.CSIC. Repositorio Institucional del CSIC
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15,812429

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