Human Mutations in Arl3, a Small GTPase Involved in Lipidated Cargo Delivery to the Cilia, Cause Retinal Dystrophy.

Autor:	Travis AM; Department of Ophthalmology and Visual Science, University of Michigan, Ann Arbor, MI, USA., Pearring JN; Department of Ophthalmology and Visual Science, University of Michigan, Ann Arbor, MI, USA. pearring@umich.edu.; Department of Cell and Developmental Biology, University of Michigan, Ann Arbor, MI, USA. pearring@umich.edu.
Jazyk:	angličtina
Zdroj:	Advances in experimental medicine and biology [Adv Exp Med Biol] 2023; Vol. 1415, pp. 283-288.
DOI:	10.1007/978-3-031-27681-1_41
Abstrakt:	Photoreceptors are highly polarized sensory neurons. Precise localization of signaling molecules within the ciliary outer segment is critical for photoreceptor function and viability. The small GTPase Arl3 plays a particularly important role in photoreceptors as it regulates outer segment enrichment of lipidated proteins essential for the visual response: transducin-α, transducin-γ, PDEα, PDE β, and Grk1. Recently, mutations in Arl3 have been identified in human patients with nonsyndromic autosomal recessive and dominant inherited retinal degenerations as well as syndromic Joubert syndrome including retinal dystrophy. (© 2023. The Author(s), under exclusive license to Springer Nature Switzerland AG.)
Databáze:	MEDLINE
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