2020年10月10日 · We show that the pre-BBSome is nucleated by BBS4 and assembled at pericentriolar satellites, followed by the translocation of the BBSome into the ciliary base mediated by BBS1. Our results provide a framework for elucidating how BBS-causative mutations interfere with the biogenesis of the BBSome.

2024年11月25日 · Our findings reveal that ciliary CDC42, a RHO-family GTPase triggers in situ actin polymerization, ciliary ectocytosis, and cilia shortening in BBSome-deficient cells. Activation of the Sonic Hedgehog pathway further enhances …

2021年1月11日 · Bbs4 KO/KO, Bbs18 KO/KO, and non‐obese hypomorphic Bbs4 GT/GT mice showed an increased frequency of B‐cell precursors in the bone marrow, as well as low numbers of MZ B cells. These effects were not caused by BBSome deficiency in hematopoietic cells.

2022年5月1日 · Specifically, analysis of Bbs4 –/–-KO mice revealed that primary cilia dysfunction (due to the loss of Bbs4) altered B cell development in both the bone marrow and the periphery relative to wild-type mice: IgD – IgM – B cell precursor numbers in the bone marrow as well as late mature B cells (IgD + IgM –) in the spleen and lymph node ...

2021年2月2日 · In peripheral immune tissues, spleen and lymph nodes, Bbs4‐mutant mice showed an increase in late mature B‐cell populations (IgD + IgM ‐) and a decrease in the percentage of splenic marginal zone B cells (~6% of CD19 + B cells in wild type versus ~3.5% of CD19 + B cells in Bbs4 KO/KO mice).

2024年12月24日 · BBS4 (Bardet-Biedl Syndrome 4) is a Protein Coding gene. Diseases associated with BBS4 include Bardet-Biedl Syndrome 4 and Bardet-Biedl Syndrome. Among its related pathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane.

2019年2月15日 · Here, we report that Bbs4-/− mice exhibit shorter and fewer olfactory sensory neuron (OSN) cilia despite retaining odorant receptor localization. Within Bbs4−/− OSN cilia, we observed asynchronous rates of IFT-A/B particle movements, indicating miscoordination in IFT complex trafficking.

2021年10月8日 · To assess metabolic effects of Bbs4-deficiency on adipose tissue function under thermal stress, we exposed mice with a whole-body ablation of the Bbs4 gene (Bbs4-KO) and wildtype littermates (WT) to a temperature of 4°C for ten days.

2024年10月24日 · BBS1 knockout (KO) cells showed delayed transferrin internalisation and increased recycling of TGFBR1, promoting EMT. On the contrary, BBS4 KO cells had higher receptor degradation but no affected recycling. These disruptions suggest that BBSome regulates both ciliary and nonciliary pathways.

2022年6月30日 · Our work using whole-body plethysmography showed that Bbs4 KO mice had a higher odor detection threshold, meaning lower odor detection sensitivity, compared with WT mice. Importantly, Bbs4 KO mice showed a similar response to that of WT mice after odor delivery of 10 −6 Torr and higher vapor pressures.