TBCCD1 and OFD1, a novel centrosomal protein partnership with a role in human ciliopathies?

• Author(s): Veiga, Joaquim ; Carmona, Bruno ; Camelo, Carolina ; Pereira, Dulce ; Marinho, H. Susana ; Soares, Helena
• Date: 2017
• Persistent ID: http://hdl.handle.net/10400.21/7303
• Origin: Repositório Científico do Instituto Politécnico de Lisboa
• Subject(s): TBCCD1; OFD1; Human ciliopathies; IPL/2016/TBCCentro_ESTeSL
• Document Type: Conference object
• Language: English
• Contributor(s): RCIPL

Description

Cilia are hair-like appendages, consisting of a microtubule (MT)-based ciliary axoneme, that 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 (primary cilia). 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 in mitosis they assist spindle pole formation.