Institute of Molecular Genetics of the Czech Academy of Sciences
+ cilia, + protein transport, + cell signalling, + tissue development, + disease mechanisms
We have discovered that hyperactive ciliary CDC42 induces actin polymerization and ectocytosis of ciliary vesicles in BBSome-deficient cells, leading to the loss of ciliary material. The elevated CDC42 activity impairs ciliary dynamics and signalling, thereby contributing to the severity of the Bardet-Biedl syndrome, a ciliopathy caused by BBSome dysfunction. [pubmed] [doi]
We found a link between ciliopathy in Bardet-Biedl syndrome, defects in the immune system and haematopoiesis. We continue to investigate the function of ciliary signalling during haematopoiesis in bone marrow. [pubmed] [doi]
We have described the sequential process of BBSome formation in living cells regulated by BBS4-BBS1-mediated translocation of pre-BBSome from pericentriolar satellites to the centrosome. Our findings now allow us to investigate how patient mutations linked to Bardet-Biedl Syndrome disrupt the BBSome biogenesis. [pubmed] [doi]
