ArticleMolecular psychiatry2018
A missense mutation in Katnal1 underlies behavioural, neurological and ciliary anomalies.
Article in Molecular psychiatry, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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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
30 citing papers in PubMed, 40 citations in OpenAlex.
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- Mosaic H3K9me3 at BREACHes predicts synaptic gene expression associated with fragile X syndrome cognitive severity.bioRxiv : the preprint server for biology · 2025Article
- Microtubule-Associated Proteins (MAPs) Are Multifunctional Cytoskeletal Proteins in the Testis That Regulate Spermatogenesis.Advances in experimental medicine and biology · 2025Review
- miR-548az-5p induces amniotic epithelial cell senescence by regulating KATNAL1 expression in labor.Scientific reports · 2024Article
- Multiciliated ependymal cells: an update on biology and pathology in the adult brain.Acta neuropathologica · 2024Review
- KATNAL2 mutations link ciliary dysfunction to hydrocephalus and autism.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Pathogenic variants in autism geneProceedings of the National Academy of Sciences of the United States of America · 2024Article
- Ultrastructural differences impact cilia shape and external exposure across cell classes in the visual cortex.Current biology : CB · 2024Article
- Loss of Katnal2 leads to ependymal ciliary hyperfunction and autism-related phenotypes in mice.PLoS biology · 2024Article
- Increased burden of rare protein-truncating variants in constrained, brain-specific and synaptic genes in extremely impulsively violent males with antisocial personality disorder.Genes, brain, and behavior · 2024Article
- Deciphering vesicle-assisted transport mechanisms in cytoplasm to cilium trafficking.Frontiers in cellular neuroscience · 2024Review
- Generation of contractile forces by three-dimensional bundled axonal tracts in micro-tissue engineered neural networks.Frontiers in molecular neuroscience · 2024Article
- Nanometer-scale views of visual cortex reveal anatomical features of primary cilia poised to detect synaptic spillover.bioRxiv : the preprint server for biology · 2023Article
- Knockout ofInternational journal of molecular sciences · 2022Article
- Chronic Exposure to Dim Light at Night or Irregular Lighting Conditions Impact Circadian Behavior, Motor Coordination, and Neuronal Morphology.Frontiers in neuroscience · 2022Article
- Pantao Pill Improves the Learning and Memory Abilities of APP/PS1 Mice by Multiple Mechanisms.Frontiers in pharmacology · 2022Article
- Wdr47, Camsaps, and Katanin cooperate to generate ciliary central microtubules.Nature communications · 2021Article
- The Aneugenicity of Ketone Bodies in Colon Epithelial Cells Is Mediated by Microtubule Hyperacetylation and Is Blocked by Resveratrol.International journal of molecular sciences · 2021Article
- Central Apparatus, the Molecular Kickstarter of Ciliary and Flagellar Nanomachines.International journal of molecular sciences · 2021Review
- The Mammalian Family of Katanin Microtubule-Severing Enzymes.Frontiers in cell and developmental biology · 2021Review
Corrections and comments
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Authors and funding
21 authors at 6 institutions in 2 countries.
Funding
Abstract
Microtubule severing enzymes implement a diverse range of tissue-specific molecular functions throughout development and into adulthood. Although microtubule severing is fundamental to many dynamic neural processes, little is known regarding the role of the family member Katanin p60 subunit A-like 1, KATNAL1, in central nervous system (CNS) function. Recent studies reporting that microdeletions incorporating the KATNAL1 locus in humans result in intellectual disability and microcephaly suggest that KATNAL1 may play a prominent role in the CNS; however, such associations lack the functional data required to highlight potential mechanisms which link the gene to disease symptoms. Here we identify and characterise a mouse line carrying a loss of function allele in Katnal1. We show that mutants express behavioural deficits including in circadian rhythms, sleep, anxiety and learning/memory. Furthermore, in the brains of Katnal1 mutant mice we reveal numerous morphological abnormalities and defects in neuronal migration and morphology. Furthermore we demonstrate defects in the motile cilia of the ventricular ependymal cells of mutants, suggesting a role for Katnal1 in the development of ciliary function. We believe the data we present here are the first to associate KATNAL1 with such phenotypes, demonstrating that the protein plays keys roles in a number of processes integral to the development of neuronal function and behaviour.
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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.