ArticleMolecular genetics & genomic medicine2021
Defective INPP5E distribution in NPHP1-related Senior-Loken syndrome.
Article in Molecular genetics & genomic medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 20 citations in OpenAlex.
- Primary Cilia of Astrocytes in the Retina in Development and Disease.Investigative ophthalmology & visual science · 2026Article
- Urinary renal epithelial cells can be used for NPHP1 phenotyping and a personalized therapeutic strategy.Journal of cell science · 2025Article
- Sub-ciliary localization of CEP290 and effects of its loss in mouse photoreceptors during development.Journal of cell science · 2025Article
- Article
- Ciliopathy-associated protein, CEP290, is required for ciliary necklace and outer segment membrane formation in retinal photoreceptors.bioRxiv : the preprint server for biology · 2025Article
- Regulation of INPP5E in Ciliogenesis, Development, and Disease.International journal of biological sciences · 2025Review
- Compartmentalized ciliation changes of oligodendrocytes in aged mouse optic nerve.Journal of neuroscience research · 2024Article
- Patient-derived and gene-edited pluripotent stem cells lackingFrontiers in cell and developmental biology · 2024Article
- Article
- Cilia-associated wound repair mediated by IFT88 in retinal pigment epithelium.Scientific reports · 2023Article
- Characterization of Primary Cilia Formation in Human ESC-Derived Retinal Organoids.Stem cells international · 2023Article
- Composition, organization and mechanisms of the transition zone, a gate for the cilium.EMBO reports · 2022Review
- Article
- Reversal of ciliary mechanisms of disassembly rescues olfactory dysfunction in ciliopathies.JCI insight · 2022Article
- Primary Cilia in Amacrine Cells in Retinal Development.Investigative ophthalmology & visual science · 2021Article
- Potential Therapeutic Targets for Olfactory Dysfunction in Ciliopathies Beyond Single-Gene Replacement.Chemical senses · 2021Review
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Authors and funding
12 authors at 5 institutions in 1 country.
Funding
Abstract
backgroundSenior-Loken syndrome is a rare genetic disorder that presents with nephronophthisis and retinal degeneration, leading to end-stage renal disease and progressive blindness. The most frequent cause of juvenile nephronophthisis is a mutation in the nephronophthisis type 1 (NPHP1) gene. NPHP1 encodes the protein nephrocystin-1, which functions at the transition zone (TZ) of primary cilia.
methodsWe report a 9-year-old Senior-Loken syndrome boy with NPHP1 deletion, who presents with bilateral vision decrease and cystic renal disease. Renal function deteriorated to require bilateral nephrectomy and renal transplant. We performed immunohistochemistry, H&E staining, and electron microscopy on the renal sample to determine the subcellular distribution of ciliary proteins in the absence of NPHP1.
resultsImmunohistochemistry and electron microscopy of the resected kidney showed disorganized cystic structures with loss of cilia in renal tubules. Phosphoinositides have been recently recognized as critical components of the ciliary membrane and immunostaining of kidney sections for phosphoinositide 5-phosphatase, INPP5E, showed loss of staining compared to healthy control. Ophthalmic examination showed decreased electroretinogram consistent with early retinal degeneration.
conclusionThe decreased expression of INPP5E specifically in the primary cilium, coupled with disorganized cilia morphology, suggests a novel role of NPHP1 that it is involved in regulating ciliary phosphoinositide composition in the ciliary membrane of renal tubular cells.
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