ABCA4 is a member of the superfamily of ATP-binding cassette (ABC) transporters that is
preferentially localized along the rim region of rod and cone photoreceptor outer segment …

Cilia sense and transduce sensory stimuli, homeostatic cues and developmental signals by
orchestrating signaling reactions. Extracellular vesicles (EVs) that bud from the ciliary …

Stargardt disease type 1 (STGD1) is the most common hereditary form of maculopathy and
remains untreatable. STGD1 is caused by biallelic variants in the ABCA4 gene, which …

Many G protein-coupled receptors (GPCRs) reside within cilia of mammalian cells and must
undergo regulated exit from cilia for the appropriate transduction of signals such as …

Mutations in the cilium-associated protein CEP290 cause retinal degeneration as part of
multiorgan ciliopathies or as retina-specific diseases. The precise location and the functional …

The primary cilium is a signaling organelle with a unique membrane composition
maintained by a diffusional barrier residing at the transition zone. Many transition zone …

The photoreceptor outer segment is a modified cilium filled with hundreds of flattened “disc”
membranes responsible for efficient light capture. To maintain photoreceptor health and …

Photoreceptor cells generate neuronal signals in response to capturing light. This process,
called phototransduction, takes place in a highly specialized outer segment organelle. There …

The human Solute Carrier (SLC) family member, monocarboxylate transporter 1 (MCT1),
transports lactic and pyruvic acid across biological membranes to regulate cellular pH and …

Summary Embigin (Gp70), a receptor for fibronectin and an ancillary protein for
monocarboxylate transporters, is known to regulate stem cell niches in sebaceous gland …