TBCCD1: a new player in the development of ciliopathies?

Carmona, Bruno; Camelo, Carolina; Mehraz, Manon; Lemullois, Michel; Ferreira, David C.; Nolasco, Sofia; Lince-Faria, Mariana; Marinho, H. Susana; Bettencourt-Dias, Mónica; Tassin, Anne-Marie; Koll, France; Soares, Helena

http://hdl.handle.net/10400.21/11821

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Authors

Bettencourt-Dias, Mónica

Tassin, Anne-Marie

Abstract(s)

Cilia 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.

Description

Project IPL/2016/TBCCentro_ESTeSL.
Project IPL/2017/CILIOPAT/ESTeSL

Keywords

TBCCD1 Ciliopathy-involved Cilia IPL/2016/TBCCentro_ESTeSL IPL/2017/CILIOPAT/ESTeSL

URI

http://hdl.handle.net/10400.21/11821

Citation

Carmona 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.