Publications by authors named "Ryotaro Tsutsumi"

Primary cilia are microtubule-based sensory organelles whose dysfunction causes ciliopathies in humans. The formation, function, and maintenance of primary cilia depend crucially on intraflagellar transport (IFT); however, the regulatory mechanisms of IFT at ciliary tips are poorly understood. Here, we identified that the ciliopathy kinase Mak is a ciliary tip-localized IFT regulator that cooperatively acts with the ciliopathy kinase Ick, an IFT regulator.

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Primary and secondary cone photoreceptor death in retinal degenerative diseases, including age-related macular degeneration (AMD) and retinitis pigmentosa (RP), leads to severe visual impairment and blindness. Although the cone photoreceptor protection in retinal degenerative diseases is crucial for maintaining vision, the underlying molecular mechanisms are unclear. Here, we found that the deubiquitinase Otud7b/Cezanne is predominantly expressed in photoreceptor cells in the retina.

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Daily intake of extracellular vesicles (EVs) derived from fish (f-EVs) may contribute to health maintenance by reducing cardiovascular risk. However, their physicochemical and biological properties remain unclear. In this study, we compared the physical characteristics (size, zeta potential, and free fatty acid composition) and biological characteristics (cell proliferation) of f-EVs with those of EVs derived from mammals (m-EVs).

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In humans, ciliary dysfunction causes ciliopathies, which present as multiple organ defects, including developmental and sensory abnormalities. Sdccag8 is a centrosomal/basal body protein essential for proper cilia formation. Gene mutations in SDCCAG8 have been found in patients with ciliopathies manifesting a broad spectrum of symptoms, including hypogonadism.

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Article Synopsis
  • Intellectual disability (ID) affects 0.5-3% of people in developed countries and is linked to deficits in intelligence and adaptive behavior, often accompanied by visual impairments.
  • The study focused on Cyfip2, a protein related to fragile X syndrome, investigating its role by creating Cyfip2 conditional knockout (CKO) mice to analyze retinal and visual functions.
  • Findings showed gene expression differences in the retinas of CKO mice and disruptions in visual function despite no significant structural changes, suggesting a molecular basis for the visual issues seen in individuals with CYFIP2 variants, relevant to broader neurodevelopmental disorders.
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Adaptation is a general feature of sensory systems. In rod photoreceptors, light-dependent transducin translocation and Ca homeostasis are involved in light/dark adaptation and prevention of cell damage by light. However, the underlying regulatory mechanisms remain unclear.

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Cilia are essential for sensory and motile functions across species. In humans, ciliary dysfunction causes "ciliopathies", which show severe developmental abnormalities in various tissues. Several missense mutations in intestinal cell kinase (ICK) gene lead to endocrine-cerebro-osteodysplasia syndrome or short rib-polydactyly syndrome, lethal recessive developmental ciliopathies.

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Precise transcriptional regulation controlled by a transcription factor network is known to be crucial for establishing correct neuronal cell identities and functions in the CNS. In the retina, the expression of various cone and rod photoreceptor cell genes is regulated by multiple transcription factors; however, the role of epigenetic regulation in photoreceptor cell gene expression has been poorly understood. Here, we found that Samd7, a rod-enriched sterile alpha domain (SAM) domain protein, is essential for silencing nonrod gene expression through H3K27me3 regulation in rod photoreceptor cells.

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