Article Abstract

Stem cells with a view: a look inside a retinal ciliopathy

Authors: Linjing Li, Hemant Khanna

Abstract

Ciliopathies are a group of severe developmental disorders that are clinically and genetically heterogeneous. They occur due to the dysfunction of cilia, which are microtubule-based extensions of the plasma membrane. The ciliary membrane acts as a hub for transmembrane receptors and specific lipids and proteins that assist in the detection and downstream signaling of extrinsic cues. They carry out diverse signaling cascades, such as sonic hedgehog signaling and sensory perceptions, including olfaction, chemosensation and photoreception (1,2). Not surprisingly, ciliary dysfunction results in severe developmental and systemic disorders, including Meckel-Gruber Syndrome, Joubert Syndrome, Bardet-Biedl Syndrome, and Senior-Loken Syndrome (1).

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