Motile and non-motile (primary) cilia are nearly ubiquitous cellular organelles. The
dysfunction of cilia causes diseases known as ciliopathies. The number of reported …

The primary cilium has recently stepped into the spotlight, as a flood of data show that this
organelle has crucial roles in vertebrate development and human genetic diseases. Cilia …

The cilium is a complex organelle, the assembly of which requires the coordination of motor-
driven intraflagellar transport (IFT), membrane trafficking and selective import of cilium …

Bardet–Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterised by
retinal dystrophy, obesity, post-axial polydactyly, renal dysfunction, learning difficulties and …

Hereditary degenerations of the human retina are genetically heterogeneous, with well over
100 genes implicated so far. This Seminar focuses on the subset of diseases called retinitis …

Primary cilium dysfunction underlies the pathogenesis of Bardet-Biedl syndrome (BBS), a
genetic disorder whose symptoms include obesity, retinal degeneration, and nephropathy …

During the last two to three decades, a large body of work has revealed the molecular basis
of many human disorders, including retinal and vitreoretinal degenerations and …

This paper presents the 12th update of the human obesity gene map, which incorporates
published results up to the end of October 2005. Evidence from single‐gene mutation …

The BBSome is a complex of Bardet-Biedl Syndrome (BBS) proteins that shares common
structural elements with COPI, COPII, and clathrin coats. Here, we show that the BBSome …

Retinal neurodegeneration associated with the dysfunction or death of photoreceptors is a
major cause of incurable vision loss. Tremendous progress has been made over the last two …