ArticleNeuron2018
Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations.
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Article in Neuron, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 1 of them a synthesis that pooled it.
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31citing papers in PubMed, 1 pooled it
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Who cites it
31 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Mapping the Cerebral Organoid Landscape: A Systematic Review of Preclinical 3D Models in Neuroscience.Advanced healthcare materials · 2026Pooled it
- A complex of MAST1 and 14-3-3η regulates Tau phosphorylation in the developing cortex.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Cerebellar Contributions to Cerebral Connectivity in Severe Mental Illness: A Developmental Cascade and Predictive-Modeling Framework with Autistic Disorder as the Focal Case.Brain sciences · 2026Review
- PRMT1 facilitates the tumorigenesis of chronic lymphocytic leukemia by regulating methylation of MAST1.Leukemia · 2026Article
- Human milk oligosaccharides promote synaptogenesis and neurite outgrowth in human cortical organoids.Biochemistry and biophysics reports · 2026Article
- Single-Cell Transcriptomic Analysis of Macaque LGN Neurons Reveals Novel Subpopulations.Molecular neurobiology · 2026Article
- RoAM: computational reconstruction of ancient methylomes and identification of differentially methylated regions.Genome biology · 2025Article
- MAST Kinases' Function and Regulation: Insights from Structural Modeling and Disease Mutations.Biomedicines · 2025Article
- Developmental mechanisms underlying pediatric epilepsy.Frontiers in neurology · 2025Review
- Protective Effect ofInternational journal of molecular sciences · 2024Article
- Multimodal joint deconvolution and integrative signature selection in proteomics.Communications biology · 2024Article
- A genetic variant in the MAST1 gene is associated with mega-corpus-callosum syndrome with hypoplastic cerebellar vermis, in a fetus.Molecular genetics & genomic medicine · 2024Article
- Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy.International journal of molecular sciences · 2023Article
- Pathogenic mutation hotspots in protein kinase domain structure.Protein science : a publication of the Protein Society · 2023Article
- Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria.JAMA neurology · 2023Article
- Quantitative proteomic and phosphoproteomic analysis reveal the relationship between mitochondrial dysfunction and cytoskeletal remodeling in hiPSC-CMs deficient in PINK1.Journal of translational medicine · 2023Article
- Microtubule-Associated Serine/Threonine (MAST) Kinases in Development and Disease.International journal of molecular sciences · 2023Review
- Pineal anlage tumor: a case report and the literature review.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2023Review
- Causes of microcephaly in human-theoretical considerations.Frontiers in neuroscience · 2023Article
- Article
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Authors and funding
41 authors.
Ratna TripathyResearch Institute of Molecular Pathology, Campus Vienna Biocenter 1, Vienna Biocenter (VBC), Vienna 1030, Austria.
Ines LecaResearch Institute of Molecular Pathology, Campus Vienna Biocenter 1, Vienna Biocenter (VBC), Vienna 1030, Austria.
Tessa van DijkDepartment of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands.
Janneke WeissAmsterdam UMC, Vrije Universiteit Amsterdam, Clinical Genetics, De Boelelaan 1117, Amsterdam, the Netherlands.
Bregje W van BonDepartment of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands.
Maria Christina SergakiResearch Institute of Molecular Pathology, Campus Vienna Biocenter 1, Vienna Biocenter (VBC), Vienna 1030, Austria.
Thomas GstreinResearch Institute of Molecular Pathology, Campus Vienna Biocenter 1, Vienna Biocenter (VBC), Vienna 1030, Austria.
Martin BreussDepartment of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA.
Guoling TianDepartment of Biochemistry & Molecular Pharmacology, NYU Langone Medical Center, New York, NY 10016, USA.
Nadia Bahi-BuissonUniversité Paris Descartes, Institut Cochin Hôpital Cochin, 75014 Paris, France.
Alexander R PaciorkowskiDepartment of Neurology, University of Rochester Medical Center, Rochester, NY 14642, USA.
Alistair T PagnamentaNIHR Oxford Biomedical Research Centre, Oxford, UK, Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.
Andrea Wenninger-WeinzierlResearch Institute of Molecular Pathology, Campus Vienna Biocenter 1, Vienna Biocenter (VBC), Vienna 1030, Austria.
Maria Fernanda Martinez-RezaResearch Institute of Molecular Pathology, Campus Vienna Biocenter 1, Vienna Biocenter (VBC), Vienna 1030, Austria.
Lukas LandlerResearch Institute of Molecular Pathology, Campus Vienna Biocenter 1, Vienna Biocenter (VBC), Vienna 1030, Austria.
Stefano LiseNIHR Oxford Biomedical Research Centre, Oxford, UK, Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.
Jenny C TaylorNIHR Oxford Biomedical Research Centre, Oxford, UK, Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.
Gaetano TerroneDepartment of Translational Medical Sciences, Section of Pediatrics, Federico II University, 80131 Naples, Italy.
Giuseppina VitielloDepartment of Translational Medical Sciences, Section of Pediatrics, Federico II University, 80131 Naples, Italy.
Ennio Del GiudiceDepartment of Translational Medical Sciences, Section of Pediatrics, Federico II University, 80131 Naples, Italy.
Nicola Brunetti-PierriDepartment of Translational Medical Sciences, Section of Pediatrics, Federico II University, 80131 Naples, Italy; Telethon Institute of Genetics and Medicine, 80078 Pozzuoli, Naples, Italy.
Alessandra D'AmicoDepartment of Advanced Medical Sciences, University of Naples Federico II, 80131 Naples, Italy.
Alexandre ReymondCenter for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland.
Norine VoisinCenter for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland.
Jonathan A BernsteinStanford School of Medicine, Stanford, CA 94305, USA.
Ellyn FarrellyStanford Children's Health, Palo Alto, CA 94304, USA.
Usha KiniDepartment of Clinical Genetics, Oxford Regional Genetics Service, Churchill Hospital, Oxford OX3 7LJ, UK.
Thomas A LeonardCenter for Medical Biochemistry, Medical University of Vienna, Max F. Perutz Laboratories, Vienna Biocenter (VBC), Campus Vienna Biocenter 5, 1030 Vienna, Austria.
Stéphanie ValenceCentre de référence des Malformations et Maladies Congénitales du Cervelet et Département de Génétique et Embryologie Médicale, APHP, Hôpital Trousseau, 75012 Paris, France.
Lydie BurglenCentre de référence des Malformations et Maladies Congénitales du Cervelet et Département de Génétique et Embryologie Médicale, APHP, Hôpital Trousseau, 75012 Paris, France.
Linlea ArmstrongProvincial Medical Genetics Programme, BCWH and Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada.
Susan M HiattHudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
Gregory M CooperHudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
Kimberly A AldingerSeattle Children's Research Institute, Center for Integrative Brain Research, Seattle, WA 98101, USA.
William B DobynsSeattle Children's Research Institute, Center for Integrative Brain Research, Seattle, WA 98101, USA.
Ghayda MirzaaSeattle Children's Research Institute, Center for Integrative Brain Research, Seattle, WA 98101, USA.
Tyler Mark PiersonDepartments of Pediatrics and Neurology & the Board of Governors Regenerative Medicine, Institute Cedars Sinai Medical Center, Los Angeles, CA 90048, USA.
Frank BaasDepartment of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands.
Jamel ChellyService de Diagnostic Génétique, Hôpital Civil de Strasbourg, Hôpitaux Universitaires de Strasbourg, 67091 Strasbourg, France.
Nicholas J CowanDepartment of Biochemistry & Molecular Pharmacology, NYU Langone Medical Center, New York, NY 10016, USA.
David Anthony KeaysResearch Institute of Molecular Pathology, Campus Vienna Biocenter 1, Vienna Biocenter (VBC), Vienna 1030, Austria. Electronic address: keays@imp.ac.at.
Funding
South-seq: DNA sequencing for newborn nurseries in the SouthU01HG007301 · NHGRI · HUDSON-ALPHA INSTITUTE FOR BIOTECHNOLOGY · PI BARSH, GREGORY STEFAN, COOPER, GREGORY MICHAEL · 2017 to 2021
$11.9MDe novo copy number variation and gene discovery in human brain malformationsR01NS058721 · NINDS · UNIVERSITY OF CHICAGO · PI ARGILLI, EMANUELA · 2008 to 2025
$10.9MMegalencephaly and segmental brain overgrowth in humansR01NS092772 · NINDS · SEATTLE CHILDREN'S HOSPITAL · PI MILLEN, KATHLEEN JOYCE · 2015 to 2019
$3.3MTubulin Mutations in Neuronal Migration DisordersR01GM097376 · NIGMS · NEW YORK UNIVERSITY SCHOOL OF MEDICINE · PI COWAN, NICHOLAS · 2012 to 2016
$2.4MGenes and pathways underlying brain overgrowth and focal cortical malformationsK08NS092898 · NINDS · SEATTLE CHILDREN'S HOSPITAL · PI MIRZAA, GHAYDA · 2015 to 2019
$930kAustrian Science Fund FWF I 2681Austrian Science Fund FWF P 28135Austrian Science Fund FWF W 1261NHGRI NIH HHS U01 HG007301NIGMS NIH HHS R01 GM097376NINDS NIH HHS K08 NS092898NINDS NIH HHS R01 NS058721NINDS NIH HHS R01 NS092772
Abstract
Corpus callosum malformations are associated with a broad range of neurodevelopmental diseases. We report that de novo mutations in MAST1 cause mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations (MCC-CH-CM) in the absence of megalencephaly. We show that MAST1 is a microtubule-associated protein that is predominantly expressed in post-mitotic neurons and is present in both dendritic and axonal compartments. We further show that Mast1 null animals are phenotypically normal, whereas the deletion of a single amino acid (L278del) recapitulates the distinct neurological phenotype observed in patients. In animals harboring Mast1 microdeletions, we find that the PI3K/AKT3/mTOR pathway is unperturbed, whereas Mast2 and Mast3 levels are diminished, indicative of a dominant-negative mode of action. Finally, we report that de novo MAST1 substitutions are present in patients with autism and microcephaly, raising the prospect that mutations in this gene give rise to a spectrum of neurodevelopmental diseases.
Indexed as
Agenesis of Corpus CallosumAnimalsAnimals, NewbornApoptosisBrainCells, CulturedCerebellumChildDevelopmental DisabilitiesDisease Models, AnimalEmbryo, MammalianFemaleGene Expression Regulation, DevelopmentalHumansMaleMalformations of Cortical DevelopmentMicrotubule-Associated ProteinsNerve Tissue ProteinsPAX6 Transcription Factorcerebellar hypoplasiacorpus callosumMAST1microdeletionmicrotubules
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