[HTML][HTML] The ciliary transition zone: finding the pieces and assembling the gate

J Gonçalves, L Pelletier - Molecules and cells, 2017 - Elsevier
Eukaryotic cilia are organelles that project from the surface of cells to fulfill motility and
sensory functions. In vertebrates, the functions of both motile and immotile cilia are critical for …

NPM1/B23: a multifunctional chaperone in ribosome biogenesis and chromatin remodeling

MS Lindström - Biochemistry research international, 2011 - Wiley Online Library
At a first glance, ribosome biogenesis and chromatin remodeling are quite different
processes, but they share a common problem involving interactions between charged …

Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa

WA Beltran, AV Cideciyan, AS Lewin… - Proceedings of the …, 2012 - National Acad Sciences
Hereditary retinal blindness is caused by mutations in genes expressed in photoreceptors or
retinal pigment epithelium. Gene therapy in mouse and dog models of a primary retinal …

In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 …

B Chang, H Khanna, N Hawes, D Jimeno… - Human molecular …, 2006 - academic.oup.com
Centrosome-and cilia-associated proteins play crucial roles in establishing polarity and
regulating intracellular transport in post-mitotic cells. Using genetic mapping and positional …

[HTML][HTML] Primary cilia biogenesis and associated retinal ciliopathies

HY Chen, RA Kelley, T Li, A Swaroop - Seminars in cell & developmental …, 2021 - Elsevier
The primary cilium is a ubiquitous microtubule-based organelle that senses external
environment and modulates diverse signaling pathways in different cell types and tissues …

Cilia: tuning in to the cell's antenna

WF Marshall, S Nonaka - Current Biology, 2006 - cell.com
Cilia are microtubule-based organelles that project like antennae from the surface of most
cells in the body. Motile cilia move fluid past cells, for example mucus in the airway. Non …

Impaired glutamylation of RPGRORF15 underlies the cone-dominated phenotype associated with truncating distal ORF15 variants

J Cehajic-Kapetanovic… - Proceedings of the …, 2022 - National Acad Sciences
Pathogenic variants in the Retinitis pigmentosa GTPase regulator (RPGR) gene lead to a
clinically severe form of X-linked retinal dystrophy. However, it remains unclear why some …

The retinal ciliopathies

NA Adams, A Awadein, HS Toma - Ophthalmic genetics, 2007 - Taylor & Francis
While the functions of many of the proteins located in or associated with the photoreceptor
cilia are poorly understood, disruption of the function of these proteins may result in a wide …

[HTML][HTML] RPGR: Its role in photoreceptor physiology, human disease, and future therapies

RD Megaw, DC Soares, AF Wright - Experimental eye research, 2015 - Elsevier
Mammalian photoreceptors contain specialised connecting cilia that connect the inner (IS) to
the outer segments (OS). Dysfunction of the connecting cilia due to mutations in ciliary …

The ciliopathies: a transitional model into systems biology of human genetic disease

EE Davis, N Katsanis - Current opinion in genetics & development, 2012 - Elsevier
The last decade has witnessed an explosion in the identification of genes, mutations in
which appear sufficient to cause clinical phenotypes in humans. This is especially true for …