Both the basal body and the microtubule‐based axoneme it nucleates have evolutionarily
conserved subdomains crucial for cilium biogenesis, function and maintenance. Here, we …

Leber congenital amaurosis (LCA) is the most severe retinal dystrophy causing blindness or
severe visual impairment before the age of 1 year. Linkage analysis, homozygosity mapping …

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 …

Photoreceptors are sensory neurons designed to convert light stimuli into neurological
responses. This process, called phototransduction, takes place in the outer segments (OS) …

Joubert syndrome (JS) and related disorders are a group of autosomal-recessive conditions
sharing the" molar tooth sign" on axial brain MRI, together with cerebellar vermis hypoplasia …

PURPOSE: To critically evaluate our experience in molecular testing of Leber congenital
amaurosis (LCA) and to use this information to devise a general approach to heterogeneous …

Deubiquitylating enzymes (DUBs), act downstream of ubiquitylation. As such, these post-
post-translational modifiers function as the final arbitrators of a protein substrate's …

We evaluated the safety and efficacy of an optimized adeno-associated virus (AAV; AAV2.
RPE65) in animal models of the RPE65 form of Leber congenital amaurosis (LCA). Protein …

Cilia are hair-like projections found on almost all cells in the human body. Originally
believed to function merely in motility, the function of solitary non-motile (primary) cilia was …

Primary cilia are sensory organelles present on most mammalian cells. The assembly and
maintenance of primary cilia are facilitated by intraflagellar transport (IFT), a bidirectional …