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Centrosomes and cilia in human disease

2011-08Journal article Open access
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dc.contributor.authorBettencourt-Dias, Mónica
dc.contributor.authorHildebrandt, Friedhelm
dc.contributor.authorPellman, David
dc.contributor.authorWoods, Geoff
dc.contributor.authorGodinho, Susana A.
dc.date.accessioned2018-02-09T11:55:00Z
dc.date.available2018-02-09T11:55:00Z
dc.date.issued2011-08
dc.descriptionThe deposited article is a post-print version (NIH-PA Author Manuscript) and has been submitted to peer review.pt_PT
dc.descriptionThere is no public supplementary material available for this publication.pt_PT
dc.descriptionThis publication hasn't any creative commons license associated.pt_PT
dc.description.abstractCentrioles are microtubule-derived structures that are essential for the formation of centrosomes, cilia and flagella. The centrosome is the major microtubule organiser in animal cells, participating in a variety of processes, from cell polarisation to cell division, whereas cilia and flagella contribute to several mechanisms in eukaryotic cells, from motility to sensing. Although it was suggested more than a century ago that these microtubule-derived structures are involved in human disease, the molecular bases of this association have only recently been discovered. Surprisingly, there is very little overlap between the genes affected in the different diseases, suggesting that there are tissue-specific requirements for these microtubule-derived structures. Knowledge of these requirements and disease mechanisms has opened new avenues for therapeutical strategies. Here, we give an overview of recent developments in this field, focusing on cancer, diseases of brain development and ciliopathies.pt_PT
dc.description.sponsorshipFundação para a Ciência e Tecnologia; Fundação Calouste Gulbenkian; European Molecular Biology Organization; European Research Council; NIH grants: (DK068306, DK090917); Howard Hughes Medical Institute.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationMónica Bettencourt-Dias, Friedhelm Hildebrandt, David Pellman, Geoff Woods, Susana A. Godinho, Centrosomes and cilia in human disease, Trends in Genetics, Volume 27, Issue 8, 2011, Pages 307-315, ISSN 0168-9525, https://doi.org/10.1016/j.tig.2011.05.004. (http://www.sciencedirect.com/science/article/pii/S0168952511000655)pt_PT
dc.identifier.doi10.1016/j.tig.2011.05.004pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.7/836
dc.language.isoporpt_PT
dc.peerreviewedyespt_PT
dc.publisherElsevierpt_PT
dc.relation.publisherversionhttps://www.sciencedirect.com/science/article/pii/S0168952511000655?via%3Dihubpt_PT
dc.subjectAneuploidypt_PT
dc.subjectCell Divisionpt_PT
dc.subjectCentrosomept_PT
dc.subjectChromosomal Instabilitypt_PT
dc.subjectCiliapt_PT
dc.subjectHumanspt_PT
dc.subjectKidney Diseases, Cysticpt_PT
dc.subjectMicrocephalypt_PT
dc.subjectMutationpt_PT
dc.subjectNeoplasmspt_PT
dc.subjectSignal Transductionpt_PT
dc.subjectSpindle Apparatuspt_PT
dc.titleCentrosomes and cilia in human diseasept_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage315pt_PT
oaire.citation.issue8pt_PT
oaire.citation.startPage307pt_PT
oaire.citation.titleTrends in Geneticspt_PT
oaire.citation.volume27pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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