ArticleNeuron2014
Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors.
Erratum issuedOpen access · bronzeAbstract read
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Article in Neuron, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 60 papers.
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60citing papers in PubMed
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Who cites it
60 citing papers in PubMed, 112 citations in OpenAlex.
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- Missense variants in KATNA1 alter microtubule dynamics and underlie dominant macular dystrophy.Research square · 2026Article
- Tubulin flux at spastin-induced nanodamage sites regulates microtubule rescue frequency and EB1 lifetimes.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Cdk7 promotes neuritogenesis in cortical neurons and contributes to social behavior in mice.Cellular and molecular life sciences : CMLS · 2026Article
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- Microtubule-Associated Proteins (MAPs) Are Multifunctional Cytoskeletal Proteins in the Testis That Regulate Spermatogenesis.Advances in experimental medicine and biology · 2025Review
- Exploring purine analogues as inhibitors against Katanin, a microtubule severing enzyme using molecular modeling approach.Scientific reports · 2024Article
- Microtubule polarity determines the lineage of embryonic neural precursor in zebrafish spinal cord.Communications biology · 2024Article
- Microtubule-binding domains in Katanin p80 subunit are essential for severing activity in C. elegans.The Journal of cell biology · 2024Article
- The "microcephalic hydrocephalus" paradox as a paradigm of altered neural stem cell biology.Cerebral cortex (New York, N.Y. : 1991) · 2024Article
- Novel lissencephaly-associated NDEL1 variant reveals distinct roles of NDE1 and NDEL1 in nucleokinesis and human cortical malformations.Acta neuropathologica · 2024Article
- Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations.Nature communications · 2023Article
- A Tale of 12 Tails: Katanin Severing Activity Affected by Carboxy-Terminal Tail Sequences.Biomolecules · 2023Article
- Review
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- Familial and syndromic forms of arachnoid cyst implicate genetic factors in disease pathogenesis.Cerebral cortex (New York, N.Y. : 1991) · 2023Article
- Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts.Nature medicine · 2023Article
- Resolving primary pathomechanisms driving idiopathic-like spinal curvature using a newiScience · 2022Article
Corrections and comments
- Erratum issued
- Erratum issued
Authors and funding
40 authors at 10 institutions in 4 countries.
Ketu Mishra-GorurDepartment of Neurosurgery, Yale School of Medicine, New Haven, CT 06510, USA; Department of Genetics, Yale School of Medicine, New Haven, CT 06510, USA; Department of Neurobiology, Yale School of Medicine, New Haven, CT 06510, USA; Yale Program on Neurogenetics, Yale School of Medicine, New Haven, CT 06510, USA.
Ahmet Okay ÇağlayanDepartment of Neurosurgery, Yale School of Medicine, New Haven, CT 06510, USA; Department of Genetics, Yale School of Medicine, New Haven, CT 06510, USA; Department of Neurobiology, Yale School of Medicine, New Haven, CT 06510, USA; Yale Program on Neurogenetics, Yale School of Medicine, New Haven, CT 06510, USA.
Ashleigh E SchafferNeurogenetics Laboratory, Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA.
Chiswili ChabuDepartment of Genetics, Yale School of Medicine, New Haven, CT 06510, USA; Howard Hughes Medical Institute, Yale School of Medicine, New Haven, CT 06510, USA.
Octavian HenegariuDepartment of Neurosurgery, Yale School of Medicine, New Haven, CT 06510, USA; Department of Genetics, Yale School of Medicine, New Haven, CT 06510, USA; Department of Neurobiology, Yale School of Medicine, New Haven, CT 06510, USA; Yale Program on Neurogenetics, Yale School of Medicine, New Haven, CT 06510, USA.
Fernando VonhoffDepartment of Molecular, Cellular and Developmental Biology, Yale University, New Haven, CT 06511, USA.
Gözde Tuğce AkgümüşDepartment of Neurosurgery, Yale School of Medicine, New Haven, CT 06510, USA; Department of Genetics, Yale School of Medicine, New Haven, CT 06510, USA; Department of Neurobiology, Yale School of Medicine, New Haven, CT 06510, USA; Yale Program on Neurogenetics, Yale School of Medicine, New Haven, CT 06510, USA.
Sayoko NishimuraDepartment of Neurosurgery, Yale School of Medicine, New Haven, CT 06510, USA; Yale Program on Neurogenetics, Yale School of Medicine, New Haven, CT 06510, USA.
Wenqi HanDepartment of Neurobiology, Yale School of Medicine, New Haven, CT 06510, USA; Kavli Institute for Neuroscience, Yale School of Medicine, New Haven, CT 06510, USA.
Shu TuDepartment of Medicine, University of California, San Diego, La Jolla, CA 92093, USA.
Burçin BaranDepartment of Neurosurgery, Yale School of Medicine, New Haven, CT 06510, USA; Department of Genetics, Yale School of Medicine, New Haven, CT 06510, USA; Department of Neurobiology, Yale School of Medicine, New Haven, CT 06510, USA; Yale Program on Neurogenetics, Yale School of Medicine, New Haven, CT 06510, USA.
Hakan GümüşDivision of Pediatric Neurology, Department of Pediatrics, Erciyes University Medical Faculty, Kayseri 38039, Turkey.
Cengiz DilberDivision of Pediatric Neurology, Department of Pediatrics, Sütcü Imam University Medical Faculty, Kahramanmaraş 46100, Turkey.
Maha S ZakiClinical Genetics Department, Human Genetics and Genome Research Division, National Research Center, Cairo 12311, Egypt.
Heba A A HossniDepartment of Neurology, National Institute of Neuromotor System, Cairo 12311, Egypt.
Jean-Baptiste RivièreEquipe Génétique des Anomalies du Développement, EA 4271, Université de Bourgogne, 21078 Dijon, France.
Hülya KayseriliDepartment of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul 34093, Turkey.
Emily G SpencerNeurogenetics Laboratory, Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA.
Rasim Ö RostiNeurogenetics Laboratory, Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA.
Jana SchrothNeurogenetics Laboratory, Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA.
Hüseyin PerDivision of Pediatric Neurology, Department of Pediatrics, Erciyes University Medical Faculty, Kayseri 38039, Turkey.
Caner ÇağlarDepartment of Neurosurgery, Yale School of Medicine, New Haven, CT 06510, USA; Department of Genetics, Yale School of Medicine, New Haven, CT 06510, USA; Department of Neurobiology, Yale School of Medicine, New Haven, CT 06510, USA; Yale Program on Neurogenetics, Yale School of Medicine, New Haven, CT 06510, USA.
Çağri ÇağlarDepartment of Neurosurgery, Yale School of Medicine, New Haven, CT 06510, USA; Department of Genetics, Yale School of Medicine, New Haven, CT 06510, USA; Department of Neurobiology, Yale School of Medicine, New Haven, CT 06510, USA; Yale Program on Neurogenetics, Yale School of Medicine, New Haven, CT 06510, USA.
Duygu DölenDepartment of Neurosurgery, Yale School of Medicine, New Haven, CT 06510, USA; Department of Genetics, Yale School of Medicine, New Haven, CT 06510, USA; Department of Neurobiology, Yale School of Medicine, New Haven, CT 06510, USA; Yale Program on Neurogenetics, Yale School of Medicine, New Haven, CT 06510, USA.
Jacob F BaranoskiDepartment of Neurosurgery, Yale School of Medicine, New Haven, CT 06510, USA; Department of Genetics, Yale School of Medicine, New Haven, CT 06510, USA; Department of Neurobiology, Yale School of Medicine, New Haven, CT 06510, USA; Yale Program on Neurogenetics, Yale School of Medicine, New Haven, CT 06510, USA.
Sefer KumandaşDivision of Pediatric Neurology, Department of Pediatrics, Erciyes University Medical Faculty, Kayseri 38039, Turkey.
Frank J MinjaDepartment of Radiology, Yale School of Medicine, New Haven, CT 06510, USA.
E Zeynep Erson-OmayDepartment of Neurosurgery, Yale School of Medicine, New Haven, CT 06510, USA; Department of Genetics, Yale School of Medicine, New Haven, CT 06510, USA; Department of Neurobiology, Yale School of Medicine, New Haven, CT 06510, USA; Yale Program on Neurogenetics, Yale School of Medicine, New Haven, CT 06510, USA.
Shrikant M ManeDepartment of Genetics, Yale School of Medicine, New Haven, CT 06510, USA; Yale Center for Genome Analysis, Yale School of Medicine, New Haven, CT 06510, USA.
Richard P LiftonDepartment of Genetics, Yale School of Medicine, New Haven, CT 06510, USA; Howard Hughes Medical Institute, Yale School of Medicine, New Haven, CT 06510, USA.
Tian XuDepartment of Genetics, Yale School of Medicine, New Haven, CT 06510, USA; Howard Hughes Medical Institute, Yale School of Medicine, New Haven, CT 06510, USA.
Haig KeshishianDepartment of Molecular, Cellular and Developmental Biology, Yale University, New Haven, CT 06511, USA.
William B DobynsDepartments of Pediatrics and Neurology, University of Washington and Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington 98105, USA.
Neil C ChiDepartment of Medicine, University of California, San Diego, La Jolla, CA 92093, USA.
Nenad ŠestanDepartment of Neurobiology, Yale School of Medicine, New Haven, CT 06510, USA; Yale Program on Neurogenetics, Yale School of Medicine, New Haven, CT 06510, USA; Kavli Institute for Neuroscience, Yale School of Medicine, New Haven, CT 06510, USA.
Angeliki LouviDepartment of Neurosurgery, Yale School of Medicine, New Haven, CT 06510, USA; Department of Neurobiology, Yale School of Medicine, New Haven, CT 06510, USA; Yale Program on Neurogenetics, Yale School of Medicine, New Haven, CT 06510, USA.
Kaya BilgüvarDepartment of Genetics, Yale School of Medicine, New Haven, CT 06510, USA; Yale Center for Genome Analysis, Yale School of Medicine, New Haven, CT 06510, USA.
Katsuhito YasunoDepartment of Neurosurgery, Yale School of Medicine, New Haven, CT 06510, USA; Department of Genetics, Yale School of Medicine, New Haven, CT 06510, USA; Department of Neurobiology, Yale School of Medicine, New Haven, CT 06510, USA; Yale Program on Neurogenetics, Yale School of Medicine, New Haven, CT 06510, USA.
Joseph G GleesonNeurogenetics Laboratory, Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA. Electronic address: jogleeson@rockefeller.edu.
Murat GünelDepartment of Neurosurgery, Yale School of Medicine, New Haven, CT 06510, USA; Department of Genetics, Yale School of Medicine, New Haven, CT 06510, USA; Department of Neurobiology, Yale School of Medicine, New Haven, CT 06510, USA; Yale Program on Neurogenetics, Yale School of Medicine, New Haven, CT 06510, USA. Electronic address: murat.gunel@yale.edu.
Yale University · USHoward Hughes Medical Institute · USErciyes University · TRUniversity of California San Diego · USIstanbul University · TRKahramanmaraş Sütçü İmam University · TRNational Water Research Center · EGSeattle Children's Hospital · USThe National Institute of Neuromotor System · EGUniversité de Bourgogne · FR
Funding
Yale Center for Mendelian GenomicsUM1HG006504 · NHGRI · YALE UNIVERSITY · PI GERSTEIN, MARK BENDER, GUNEL, MURAT · 2016 to 2020
$14.8MYale Center for Mendelian DisordersU54HG006504 · NHGRI · YALE UNIVERSITY · PI GERSTEIN, MARK BENDER, GUNEL, MURAT · 2012 to 2015
$11.0MProject 3. Genetic Models of Human Structural Brain Defects in ZebrafishP01HD070494 · NICHD · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI GLEESON, JOSEPH G · 2011 to 2016
$6.7MDevelopment and Organization of the Human Frontal CortexU01MH081896 · NIMH · YALE UNIVERSITY · PI SESTAN, NENAD · 2009 to 2013
$5.7MTUMOR SUPPRESSORS AND CELL PROLIFERATION IN DROSOPHILAR01CA069408 · NCI · YALE UNIVERSITY · PI XU, TIAN · 1996 to 2016
$5.1MDoublecortin In Neuronal MigrationR01NS041537 · NINDS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI GLEESON, JOSEPH G · 2002 to 2014
$3.9MDisease Gene Discovery in Structural Brain DisordersR01MH103616 · NIMH · YALE UNIVERSITY · PI BILGUVAR, KAYA, GUNEL, MURAT · 2014 to 2015
$1.5MMolecular Mechanisms of Intellectual DisabilityR00HD082337 · NICHD · CASE WESTERN RESERVE UNIVERSITY · PI SCHAFFER, ASHLEIGH E · 2017 to 2019
$662kMolecular Mechanisms of Intellectual DisabilityK99HD082337 · NICHD · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI SCHAFFER, ASHLEIGH E · 2015 to 2016
$268kHoward Hughes Medical InstituteNCI NIH HHS R01 CA069408NHGRI NIH HHS U54 HG006504NHGRI NIH HHS U54HG006504NHGRI NIH HHS UM1 HG006504NICHD NIH HHS K99 HD082337NICHD NIH HHS P01 HD070494NICHD NIH HHS P01HD070494NICHD NIH HHS R00 HD082337NIMH NIH HHS R01 MH103616NIMH NIH HHS R01MH103616NIMH NIH HHS U01 MH081896NIMH NIH HHS U01MH081896NINDS NIH HHS R01 NS041537NINDS NIH HHS R01NS041537
Abstract
Exome sequencing analysis of over 2,000 children with complex malformations of cortical development identified five independent (four homozygous and one compound heterozygous) deleterious mutations in KATNB1, encoding the regulatory subunit of the microtubule-severing enzyme Katanin. Mitotic spindle formation is defective in patient-derived fibroblasts, a consequence of disrupted interactions of mutant KATNB1 with KATNA1, the catalytic subunit of Katanin, and other microtubule-associated proteins. Loss of KATNB1 orthologs in zebrafish (katnb1) and flies (kat80) results in microcephaly, recapitulating the human phenotype. In the developing Drosophila optic lobe, kat80 loss specifically affects the asymmetrically dividing neuroblasts, which display supernumerary centrosomes and spindle abnormalities during mitosis, leading to cell cycle progression delays and reduced cell numbers. Furthermore, kat80 depletion results in dendritic arborization defects in sensory and motor neurons, affecting neural architecture. Taken together, we provide insight into the mechanisms by which KATNB1 mutations cause human cerebral cortical malformations, demonstrating its fundamental role during brain development.
Indexed as
Adenosine TriphosphatasesAnimalsBrainCell CountCell DivisionDendritesDrosophilaDrosophila ProteinsHumansKataninMiceMicrocephalyMicrotubule-Associated ProteinsMutationNeural Stem CellsNeurogenesisAdenosine TriphosphatasesDrosophila ProteinsKataninMicrotubule-Associated Proteins
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