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CCBE1 in Cardiac Development and Disease

2022-02-09Recensão Acesso aberto
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dc.contributor.authorBonet, Fernando
dc.contributor.authorInácio, José M.
dc.contributor.authorBover, Oriol
dc.contributor.authorAñez, Sabrina B.
dc.contributor.authorBelo, José A.
dc.contributor.authorA. Belo, José
dc.contributor.institutionCentro de Estudos de Doenças Crónicas (CEDOC)
dc.contributor.institutionNOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)
dc.contributor.pblFrontiers Media
dc.date.accessioned2022-03-16T23:23:30Z
dc.date.available2022-03-16T23:23:30Z
dc.date.issued2022-02-09
dc.descriptionFunding Information: Funding: OB was a pre-doctoral fellow of Fundação para a Ciência e Tecnologia (PD/BD/105891/2015). This work was supported by Fundação para a Ciência e a Tecnologia (FCT) grants (PTDC/SAU-ENB/121095/2010, HMSP-ICT/0039/2013 and 02/SAICT/2017/029590) to JA Belo and by the Scientific Employment Stimulus to JMI (Norma Transitória 8189/2018, FCT), and iNOVA4Health – UIDB/Multi/04462/2020 and UIDP/Multi/04462/2020, a program financially supported by Fundação para a Ciência e Tecnologia / Ministério da Educação e Ciência, through national funds is acknowledged.
dc.description.abstractThe collagen- and calcium-binding EGF-like domains 1 (CCBE1) is a secreted protein extensively described as indispensable for lymphangiogenesis during development enhancing VEGF-C signaling. In human patients, mutations in CCBE1 have been found to cause Hennekam syndrome, an inherited disease characterized by malformation of the lymphatic system that presents a wide variety of symptoms such as primary lymphedema, lymphangiectasia, and heart defects. Importantly, over the last decade, an essential role for CCBE1 during heart development is being uncovered. In mice, Ccbe1 expression was initially detected in distinct cardiac progenitors such as first and second heart field, and the proepicardium. More recently, Ccbe1 expression was identified in the epicardium and sinus venosus (SV) myocardium at E11.5–E13.5, the stage when SV endocardium–derived (VEGF-C dependent) coronary vessels start to form. Concordantly, CCBE1 is required for the correct formation of the coronary vessels and the coronary artery stem in the mouse. Additionally, Ccbe1 was found to be enriched in mouse embryonic stem cells (ESC) and revealed as a new essential gene for the differentiation of ESC-derived early cardiac precursor cell lineages. Here, we bring an up-to-date review on the role of CCBE1 in cardiac development, function, and human disease implications. Finally, we envisage the potential of this molecule’s functions from a regenerative medicine perspective, particularly novel therapeutic strategies for heart disease.en
dc.description.versionpublishersversion
dc.description.versionpublished
dc.format.extent1461605
dc.identifier.doi10.3389/fgene.2022.836694
dc.identifier.issn1664-8021
dc.identifier.otherPURE: 42090693
dc.identifier.otherPURE UUID: 40225de3-9067-4427-91d5-0e32f648017d
dc.identifier.otherScopus: 85125147407
dc.identifier.otherPubMed: 35222551
dc.identifier.otherWOS: 000760722400001
dc.identifier.urihttp://hdl.handle.net/10362/134690
dc.identifier.urlhttps://www.scopus.com/pages/publications/85125147407
dc.language.isoeng
dc.peerreviewedyes
dc.subjectcardiogenesis
dc.subjectCCBE1
dc.subjectcoronary vessels
dc.subjectcvd
dc.subjectHennekam syndrome
dc.subjectlymphangiogenesis
dc.subjectproliferation
dc.subjectMolecular Medicine
dc.subjectGenetics
dc.subjectGenetics(clinical)
dc.subjectSDG 3 - Good Health and Well-being
dc.titleCCBE1 in Cardiac Development and Diseaseen
dc.typereview
degois.publication.titleFrontiers in Genetics
degois.publication.volume13
dspace.entity.typePublication
person.familyNameBelo
person.givenNameJosé A.
person.identifier.ciencia-idBF13-08E9-25E6
person.identifier.orcid0000-0001-7384-0949
person.identifier.ridF-4444-2012
person.identifier.scopus-author-id6602141392
rcaap.rightsopenAccess
relation.isAuthorOfPublication9f75224c-9cf2-478f-9c7c-d22527950642
relation.isAuthorOfPublication.latestForDiscovery9f75224c-9cf2-478f-9c7c-d22527950642

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