Retinitis pigmentosa (RP) is the most common inherited retinal disease characterized by
progressive degeneration of photoreceptors and/or retinal pigment epithelium that …

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Cilia are ubiquitous eukaryotic organelles impotant for cellular motility, signaling, and
sensory reception. Cilium formation requires intraflagellar transport of structural and …

The IFT-B complex mediates ciliary anterograde protein trafficking and membrane protein
export together with the BBSome. Bardet-Biedl syndrome (BBS) is caused by mutations in …

In the last few years, trio-Whole Exome Sequencing (WES) analysis has revolutionized the
diagnostic process for patients with rare genetic syndromes, demonstrating its potential even …

Motile and non-motile cilia play critical roles in mammalian development and health. These
organelles are composed of a 1000 or more unique proteins, but their assembly depends …

The BBSome is an octameric protein complex involved in Bardet-Biedl syndrome (BBS), a
human pleiotropic, autosomal recessive condition. Patients with BBS display various clinical …

Ciliopathies are inherited disorders caused by defective cilia. Mutations affecting motile cilia
usually cause the chronic muco-obstructive sinopulmonary disease primary ciliary …

Epithelial cells lining the ducts and tubules of the kidney nephron and collecting duct have a
single non-motile cilium projecting from their surface into the lumen of the tubule. These …

Certain transmembrane and membrane-tethered signaling proteins export from cilia as
BBSome cargoes via the outward BBSome transition zone (TZ) diffusion pathway …