ArticleThe Journal of comparative neurology2008
Species differences in the expression of Ahi1, a protein implicated in the neurodevelopmental disorder Joubert syndrome, with preferential accumulation to stigmoid bodies.
Article in The Journal of comparative neurology, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
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Who cites it
27 citing papers in PubMed, 1 synthesis or guideline pooled it, 50 citations in OpenAlex.
- A large replication study and meta-analysis in European samples provides further support for association of AHI1 markers with schizophrenia.Human molecular genetics · 2010Pooled it
- Ahi1 regulates serotonin production by the GR/ERβ/TPH2 pathway involving sexual differences in depressive behaviors.Cell communication and signaling : CCS · 2022Article
- The Transition Zone Protein AHI1 Regulates Neuronal Ciliary Trafficking of MCHR1 and Its Downstream Signaling Pathway.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2021Article
- Ahi1 regulates the nuclear translocation of glucocorticoid receptor to modulate stress response.Translational psychiatry · 2021Article
- Ahi1 promotes Arl13b ciliary recruitment, regulates Arl13b stability and is required for normal cell migration.Journal of cell science · 2019Article
- Loss of the neurodevelopmental Joubert syndrome causing protein, Ahi1, causes motor and muscle development delays independent of central nervous system involvement.Developmental biology · 2019Article
- Mutant Ahi1 Affects Retinal Axon Projection in ZebrafishFrontiers in cellular neuroscience · 2019Article
- Primary Cilia Reconsidered in the Context of Ciliopathies: Extraciliary and Ciliary Functions of Cilia Proteins Converge on a Polarity theme?BioEssays : news and reviews in molecular, cellular and developmental biology · 2018Review
- Primary cilia proteins: ciliary and extraciliary sites and functions.Cellular and molecular life sciences : CMLS · 2018Review
- Missense mutations in the WD40 domain ofJournal of medical genetics · 2017Article
- Alterations in the expression of a neurodevelopmental gene exert long-lasting effects on cognitive-emotional phenotypes and functional brain networks: translational evidence from the stress-resilient Ahi1 knockout mouse.Molecular psychiatry · 2017Article
- Abelson helper integration site-1 gene variants on major depressive disorder and bipolar disorder.Psychiatry investigation · 2014Article
- Neural mechanisms underlying stress resilience in Ahi1 knockout mice: relevance to neuropsychiatric disorders.Molecular psychiatry · 2014Article
- The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions.The Journal of biological chemistry · 2013Article
- Loss of Ahi1 affects early development by impairing BM88/Cend1-mediated neuronal differentiation.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2013Article
- A review of the evidence for the canonical Wnt pathway in autism spectrum disorders.Molecular autism · 2012Article
- Expression changes of hypothalamic Ahi1 in mice brain: implication in sensing insulin signaling.Molecular biology reports · 2012Article
- Modelling a ciliopathy: Ahi1 knockdown in model systems reveals an essential role in brain, retinal, and renal development.Cellular and molecular life sciences : CMLS · 2012Article
- Hypothalamic Ahi1 mediates feeding behavior through interaction with 5-HT2C receptor.The Journal of biological chemistry · 2012Article
- Investigating embryonic expression patterns and evolution of AHI1 and CEP290 genes, implicated in Joubert syndrome.PloS one · 2012Article
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
Abstract
Joubert syndrome (JBTS) is an autosomal recessive disorder characterized by cerebellum and brainstem malformations. Individuals with JBTS have abnormal breathing and eye movements, ataxia, hypotonia, and cognitive difficulty, and they display mirror movements. Mutations in the Abelson-helper integration site-1 gene (AHI1) cause JBTS in humans, suggesting that AHI1 is required for hindbrain development; however AHI1 may also be required for neuronal function. Support for this idea comes from studies demonstrating that the AHI1 locus is associated with schizophrenia. To gain further insight into the function of AHI1 in both the developing and mature central nervous system, we determined the spatial and temporal expression patterns of the gene products of AHI1 orthologs throughout development, in human, mouse, and zebrafish. Murine Ahi1 was distributed throughout the cytoplasm, dendrites, and axons of neurons, but was absent in glial cells. Ahi1 expression in the mouse brain was observed as early as embryonic day 10.5 and persisted into adulthood, with peak expression during the first postnatal week. Murine Ahi1 was observed in neurons of the hindbrain, midbrain, and ventral forebrain. Generally, the AHI1/Ahi1/ahi1 orthologs had a conserved distribution pattern in human, mouse, and zebrafish, but mouse Ahi1 was not present in the developing and mature cerebellum. Ahi1 was also observed consistently in the stigmoid body, a poorly characterized cytoplasmic organelle found in neurons. Overall, these results suggest roles for AHI1 in neurodevelopmental processes that underlie most of the neuroanatomical defects in JBTS, and perhaps in neuronal functions that contribute to schizophrenia.
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