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TBCCD1: a new player in the development of ciliopathies?

dc.contributor.authorCarmona, Bruno
dc.contributor.authorCamelo, Carolina
dc.contributor.authorMehraz, Manon
dc.contributor.authorLemullois, Michel
dc.contributor.authorFerreira, David C.
dc.contributor.authorNolasco, Sofia
dc.contributor.authorLince-Faria, Mariana
dc.contributor.authorMarinho, H. Susana
dc.contributor.authorBettencourt-Dias, Mónica
dc.contributor.authorTassin, Anne-Marie
dc.contributor.authorKoll, France
dc.contributor.authorSoares, Helena
dc.date.accessioned2020-06-11T10:44:22Z
dc.date.available2020-06-11T10:44:22Z
dc.date.issued2019-05
dc.descriptionProject IPL/2016/TBCCentro_ESTeSL.pt_PT
dc.descriptionProject IPL/2017/CILIOPAT/ESTeSLpt_PT
dc.description.abstractCilia are hair-like appendages, consisting of a microtubule (MT)-based ciliary axoneme, which fulfill critical motility and sensory functions required for normal embryonic development and also for homeostasis of adult tissues. At their base, cilia have a centriole/basal body, which can be derived from the centrosome, and that nucleates the ciliary axoneme. Centrosomes consist of a pair of centrioles surrounded by the pericentriolar matrix that nucleate/organize the cytoskeleton and are implicated in cell migration, adhesion, and polarity, while during mitosis they assist spindle pole formation. Centriolar satellites are cytoplasmic granules that are located and move around the centrosome. These particles are involved in centrosome assembly and primary cilium formation by delivering cytoplasmatic centriolar/centrosomal components to the centrosome. Mutations in genes encoding centrosome and/or centriolar satellite components and regulators lead to various human disorders such as ciliopathies. Ciliopathies are typified by often overlapping clinical manifestations, e.g. infertility, obesity, brain and skeletal developmental problems, blindness and kidney cysts.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationCarmona B, Camelo C, Mehraz M, Lemullois M, Nolasco S, Soares H, et al. TBCCD1: a new player in the development of ciliopathies? In: CQE Days Spring Meetings, Academia das Ciências de Lisboa, 30 e 31 de maio de 2019.pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.21/11821
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.relationProject IPL/2016/TBCCentro_ESTeSLpt_PT
dc.relationProject IPL/2017/CILIOPAT/ESTeSLpt_PT
dc.relation.publisherversionhttps://ciencias.ulisboa.pt/pt/evento/30-05-2019/cqe-days-spring-meeting-2019pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/pt_PT
dc.subjectTBCCD1pt_PT
dc.subjectCiliopathy-involvedpt_PT
dc.subjectCiliapt_PT
dc.subjectIPL/2016/TBCCentro_ESTeSLpt_PT
dc.subjectIPL/2017/CILIOPAT/ESTeSLpt_PT
dc.titleTBCCD1: a new player in the development of ciliopathies?pt_PT
dc.typeconference object
dspace.entity.typePublication
oaire.citation.conferencePlaceLisboapt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typeconferenceObjectpt_PT

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