On the Wrong Track: Alterations of Ciliary Transport in Inherited Retinal Dystrophies.

ABSTRACT: Ciliopathies are a group of heterogeneous inherited disorders associated with dysfunction of the cilium, a ubiquitous microtubule-based organelle involved in a broad range of cellular functions. Most ciliopathies are syndromic, since several organs whose cells produce a cilium, such as the retina, cochlea or kidney, are affected by mutations in ciliary-related genes. In the retina, photoreceptor cells present a highly specialized neurosensory cilium, the outer segment, stacked with membranous disks where photoreception and phototransduction occurs. The daily renewal of the more distal disks is a unique characteristic of photoreceptor outer segments, resulting in an elevated protein demand. All components necessary for outer segment formation, maintenance and function have to be transported

SUBMITTER: Sanchez-Bellver L 

PROVIDER: S-EPMC7973215 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature