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Molecular mechanisms of cilia related diseases [editorial]

2024-05Journal article Open access
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dc.contributor.authorCarvalhal, Sara
dc.contributor.authorCarmona, Bruno
dc.contributor.authorTassin, Anne-Marie
dc.contributor.authorGonçalves, João
dc.date.accessioned2024-06-17T09:51:56Z
dc.date.available2024-06-17T09:51:56Z
dc.date.issued2024-05
dc.description.abstractEukaryotic cilia are fascinating evolutionarily conserved microtubule-based organelles that protrude from the cell surface. In vertebrates, multiple types of motile and primary (immotile) cilia fulfill motility and signaling functions, critical for embryonic development and homeostasis of adult tissues. Importantly, perturbed cilia assembly and functions are associated with a growing number of diseases. This Research Topic gathers an update on recent progress made in understanding the molecular mechanisms of cilia-related diseases. Critically, understanding disease development has been facilitated by advances in technology. For example, the importance of omics techniques for monitoring the progression of cilia-associated rare diseases is showcased in the work of (Jeziorny et al.). This study applied an untargeted metabolomic approach using LC-QTOF-MS to study patients with Alström (ALMS) and Bardet-Biedl (BBS), which shared defective primary ciliary structures and found common molecular fingerprints between ALMS and BBS, and alterations in various lipid metabolites when comparing obese and healthy participants.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationCarvalhal S, Carmona B, Tassin AM, Gonçalves J. Molecular mechanisms of cilia related diseases [editorial]. Front Mol Biosci. 2024;11:1421419.pt_PT
dc.identifier.doi10.3389/fmolb.2024.1421419pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.21/17498
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherFrontiers Mediapt_PT
dc.relation.publisherversionhttps://www.frontiersin.org/articles/10.3389/fmolb.2024.1421419/fullpt_PT
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/pt_PT
dc.subjectCiliopathiespt_PT
dc.subjectCiliumpt_PT
dc.subjectMolecular mechanisms of diseasept_PT
dc.subjectOrganellept_PT
dc.subjectCytoskeletonpt_PT
dc.subjectSignallingpt_PT
dc.subjectRare genetic diseasespt_PT
dc.titleMolecular mechanisms of cilia related diseases [editorial]pt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.startPage1421419pt_PT
oaire.citation.titleFrontiers in Molecular Biosciencespt_PT
oaire.citation.volume11pt_PT
person.familyNameSousa Carmona
person.givenNameBruno Filipe
person.identifier.ciencia-id681F-6045-F8C2
person.identifier.orcid0000-0003-0871-9063
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublication908e548e-eaac-4485-97c5-fcbd33fe7e5a
relation.isAuthorOfPublication.latestForDiscovery908e548e-eaac-4485-97c5-fcbd33fe7e5a

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