ArticleCellular and molecular life sciences : CMLS2012
Modelling a ciliopathy: Ahi1 knockdown in model systems reveals an essential role in brain, retinal, and renal development.
Article in Cellular and molecular life sciences : CMLS, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
20 citing papers in PubMed, 31 citations in OpenAlex.
- Establishing a Zebrafish Functional Assay to Assess the Pathogenicity of Variants of Uncertain Significance in Ciliopathies.European journal of clinical investigation · 2026Article
- Insights Gained From Zebrafish Models for the Ciliopathy Joubert Syndrome.Frontiers in genetics · 2022Review
- Zebrafish Models of Autosomal Recessive Ataxias.Cells · 2021Review
- Disease Modeling To Understand the Pathomechanisms of Human Genetic Kidney Disorders.Clinical journal of the American Society of Nephrology : CJASN · 2020Review
- Mutant Ahi1 Affects Retinal Axon Projection in ZebrafishFrontiers in cellular neuroscience · 2019Article
- Review
- Zebrafish Models of Rare Hereditary Pediatric Diseases.Diseases (Basel, Switzerland) · 2018Review
- Using zebrafish to study the function of nephronophthisis and related ciliopathy genes.F1000Research · 2018Article
- Primary Cilia as a Possible Link between Left-Right Asymmetry and Neurodevelopmental Diseases.Genes · 2017Review
- The Ciliopathy Gene ahi1 Is Required for Zebrafish Cone Photoreceptor Outer Segment Morphogenesis and Survival.Investigative ophthalmology & visual science · 2017Article
- Zebrafish: a vertebrate tool for studying basal body biogenesis, structure, and function.Cilia · 2016Review
- Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene.Human molecular genetics · 2015Article
- Mechanisms of otoconia and otolith development.Developmental dynamics : an official publication of the American Association of Anatomists · 2015Review
- Ciliopathies: the trafficking connection.Traffic (Copenhagen, Denmark) · 2014Review
- Bioinformatic analysis of ciliary transition zone proteins reveals insights into the evolution of ciliopathy networks.BMC genomics · 2014Article
- Article
- The role of primary cilia in the development and disease of the retina.Organogenesis · 2014Review
- Cell polarity and cystic kidney disease.Pediatric nephrology (Berlin, Germany) · 2013Review
- Investigating embryonic expression patterns and evolution of AHI1 and CEP290 genes, implicated in Joubert syndrome.PloS one · 2012Article
- A huntingtin-HAP1-PCM1 pathway in ciliogenesis.Expert review of proteomics · 2012Article
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
Abstract
Joubert syndrome and related diseases (JSRD) are cerebello-oculo-renal syndromes with phenotypes including cerebellar hypoplasia, retinal dystrophy, and nephronophthisis (a cystic kidney disease). Mutations in AHI1 are the most common genetic cause of JSRD, with developmental hindbrain anomalies and retinal degeneration being prominent features. We demonstrate that Ahi1, a WD40 domain-containing protein, is highly conserved throughout evolution and its expression associates with ciliated organisms. In zebrafish ahi1 morphants, the phenotypic spectrum of JSRD is modeled, with embryos showing brain, eye, and ear abnormalities, together with renal cysts and cloacal dilatation. Following ahi1 knockdown in zebrafish, we demonstrate loss of cilia at Kupffer's vesicle and subsequently defects in cardiac left-right asymmetry. Finally, using siRNA in renal epithelial cells we demonstrate a role for Ahi1 in both ciliogenesis and cell-cell junction formation. These data support a role for Ahi1 in epithelial cell organization and ciliary formation and explain the ciliopathy phenotype of AHI1 mutations in man.
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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.