ArticleHuman molecular genetics2012
OCRL localizes to the primary cilium: a new role for cilia in Lowe syndrome.
Article in Human molecular genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 79 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
79 citing papers in PubMed, 118 citations in OpenAlex.
- Modeling of Lowe Patient-Derived Induced Pluripotent Stem Cells Into Trabecular Meshwork.American journal of ophthalmology · 2026Article
- Article
- The power of five - inositol polyphosphate 5-phosphatase gene mutations at the intersection of development and disease.FEBS letters · 2026Review
- PIK3C2A-Related Clinical Phenotype and Cellular Charaterization Linked to Functional SHH Primary Cilia Defect.Clinical genetics · 2025Article
- Phosphatidylinositol 4,5-bisphosphate impacts extracellular vesicle shedding from C. elegans ciliated sensory neurons.Journal of cell science · 2025Article
- Phosphatidylinositol 4,5-bisphosphate Impacts Extracellular Vesicle Shedding frombioRxiv : the preprint server for biology · 2025Article
- Modelling Lowe syndrome and Dent-2 disease using zebrafish.Frontiers in cell and developmental biology · 2025Review
- Atypical phenotypes and novel OCRL variations in southern Chinese patients with Lowe syndrome.Pediatric nephrology (Berlin, Germany) · 2024Article
- Parkinsonism Sac domain mutation in Synaptojanin-1 affects ciliary properties in iPSC-derived dopaminergic neurons.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- HOPS-dependent lysosomal fusion controls Rab19 availability for ciliogenesis in polarized epithelial cells.Journal of cell science · 2024Article
- Role of lipids in the control of autophagy and primary cilium signaling in neurons.Neural regeneration research · 2024Review
- TRPP2 is located in the primary cilia of human non-pigmented ciliary epithelial cells.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2024Article
- Parkinsonism Sac domain mutation in Synaptojanin-1 affects ciliary properties in iPSC-derived dopaminergic neurons.bioRxiv : the preprint server for biology · 2023Article
- Phosphoinositides in New Spaces.Cold Spring Harbor perspectives in biology · 2023Review
- Review
- Primary cilia and actin regulatory pathways in renal ciliopathies.Frontiers in nephrology · 2023Review
- Composition, organization and mechanisms of the transition zone, a gate for the cilium.EMBO reports · 2022Review
- The Role of Primary Cilia-Associated Phosphoinositide Signaling in Development.Journal of developmental biology · 2022Review
- Involvement of transient receptor potential channels in ocular diseases: a narrative review.Annals of translational medicine · 2022Article
- Distribution of prototypical primary cilia markers in subtypes of retinal ganglion cells.The Journal of comparative neurology · 2022Article
19 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 5 institutions in 1 country.
Funding
Abstract
Oculocerebral renal syndrome of Lowe (OCRL or Lowe syndrome), a severe X-linked congenital disorder characterized by congenital cataracts and glaucoma, mental retardation and kidney dysfunction, is caused by mutations in the OCRL gene. OCRL is a phosphoinositide 5-phosphatase that interacts with small GTPases and is involved in intracellular trafficking. Despite extensive studies, it is unclear how OCRL mutations result in a myriad of phenotypes found in Lowe syndrome. Our results show that OCRL localizes to the primary cilium of retinal pigment epithelial cells, fibroblasts and kidney tubular cells. Lowe syndrome-associated mutations in OCRL result in shortened cilia and this phenotype can be rescued by the introduction of wild-type OCRL; in vivo, knockdown of ocrl in zebrafish embryos results in defective cilia formation in Kupffer vesicles and cilia-dependent phenotypes. Cumulatively, our data provide evidence for a role of OCRL in cilia maintenance and suggest the involvement of ciliary dysfunction in the manifestation of Lowe syndrome.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.