ArticleNature genetics2018
Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration.
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Article in Nature genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers.
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54 citing papers in PubMed, 86 citations in OpenAlex.
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Authors and funding
44 authors at 20 institutions in 11 countries.
Ashleigh E SchafferDepartment of Neuroscience, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, San Diego, CA, USA. ashleigh.schaffer@case.edu.ORCID http://orcid.org/0000-0002-1164-697X
Martin W BreussDepartment of Neuroscience, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, San Diego, CA, USA.
Ahmet Okay CaglayanDepartments of Neurosurgery, Neurobiology, and Genetics, Yale University School of Medicine, New Haven, CT, USA.
Nouriya Al-SanaaDepartment of Pediatrics, Johns Hopkins Aramco Healthcare, Dhahran, Saudi Arabia.
Hind Y Al-AbdulwahedDepartment of Pediatrics, Johns Hopkins Aramco Healthcare, Dhahran, Saudi Arabia.
Hande KaymakçalanDepartment of Pediatrics, Istanbul Bilim University, Istanbul, Turkey.
Cahide YılmazDepartment of Pediatrics, Yıldırım Beyazıt University, Ankara, Turkey.
Maha S ZakiClinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
Rasim O RostiDepartment of Neuroscience, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, San Diego, CA, USA.
Brett CopelandDepartment of Neuroscience, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, San Diego, CA, USA.
Seung Tae BaekDepartment of Neuroscience, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, San Diego, CA, USA.
Damir MusaevDepartment of Neuroscience, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, San Diego, CA, USA.
Eric C ScottDepartment of Neuroscience, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, San Diego, CA, USA.
Tawfeg Ben-OmranClinical and Metabolic Genetics Section, Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar.
Ariana KariminejadKariminejad-Najmabadi Pathology and Genetic Center, Tehran, Iran.
Hulya KayseriliDepartment of Medical Genetics, Koç University School of Medicine, Istanbul, Turkey.
Faezeh MojahediMashhad Medical Genetic Counseling Center, Mashhad, Iran.
Majdi KaraUniversity of Tripoli, Tripoli Children's Hospital, Tripoli, Libya.
Na CaiDepartment of Neuroscience, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, San Diego, CA, USA.
Jennifer L SilhavyDepartment of Neuroscience, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, San Diego, CA, USA.
Seham ElsharifUniversity of Tripoli, Tripoli Children's Hospital, Tripoli, Libya.
Elif FenerciogluL.E.S. Mikrogen Genetic Diseases Diagnosis Center, Istanbul, Turkey.
Bruce A BarshopDepartment of Pediatrics, Biochemical Genetics Program, University of California, San Diego, San Diego, CA, USA.
Bulent KaraDepartment of Pediatric Neurology, Kocaeli University, Kocaeli, Turkey.
Rengang WangDepartment of Neuroscience, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, San Diego, CA, USA.
Valentina StanleyDepartment of Neuroscience, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, San Diego, CA, USA.
Kiely N JamesDepartment of Neuroscience, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, San Diego, CA, USA.
Rahul NachnaniDepartment of Neuroscience, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, San Diego, CA, USA.
Aneesha KalurDepartment of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, USA.
Hisham MegahedClinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.ORCID http://orcid.org/0000-0002-7765-0875
Faruk IncecikDepartment of Pediatric Neurology, Cukurova University, Adana, Turkey.
Sumita DandaDepartment of Clinical Genetics, Christian Medical College and Hospital, Vellore, India.
Yasemin AlanayPediatric Genetics Unit, Department of Pediatrics, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey.
Eissa FaqeihSection of Medical Genetics, Department of Pediatrics, King Fahad Medical City, Children's Hospital, Riyadh, Saudi Arabia.
Gia MelikishviliDepartment of Pediatrics, MediClubGeorgia, Tbilisi, Georgia.
Lobna MansourPediatric Department, Neuropediatric Unit, Cairo University Children's Hospital, Cairo, Egypt.
Ian MillerNeurology Department, Nicklaus Children's Hospital, Miami, FL, USA.
Biayna SukhudyanArabkir Joint Medical Center and Institute of Child and Adolescent Health, Yerevan, Armenia.
Jamel ChellyInstitut Cochin, Université Paris-Descartes, CNRS (UMR 8104), Paris, France.ORCID http://orcid.org/0000-0002-0939-8719
William B DobynsDepartments of Pediatrics and Neurology, University of Washington, Seattle, WA, USA.
Kaya BilguvarDepartments of Neurosurgery, Neurobiology, and Genetics, Yale University School of Medicine, New Haven, CT, USA.
Rami Abou JamraInstitute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.
Murat GunelDepartments of Neurosurgery, Neurobiology, and Genetics, Yale University School of Medicine, New Haven, CT, USA.
Joseph G GleesonDepartment of Neuroscience, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, San Diego, CA, USA. jogleeson@ucsd.edu.ORCID http://orcid.org/0000-0002-6713-8018
Children’s Institute · USIstanbul Bilim University · TRNational Research Centre · EGSaudi Aramco Medical Services Organization · SAUniversity of Tripoli · LYYale University · USAnkara Yıldırım Beyazıt University · TRArabkir Joint Medical Center · AMCairo University · EGCase Western Reserve University · USCentre National de la Recherche Scientifique · FRChristian Medical College, Vellore · INCukurova University · TRHamad Medical Corporation · QAKent Hastanesi · TRKing Fahd Medical City · SAKocaeli Üniversitesi · TRKoç University · TRMiami Children's Hospital · USNational Cancer Center of Georgia · GE
Funding
U of Calif, San Diego Neuroscience Microscopy ImagingP30NS047101 · NINDS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI GLEESON, JOSEPH G, ZHENG, BINHAI · 2003 to 2022
$9.0MProject 3. Genetic Models of Human Structural Brain Defects in ZebrafishP01HD070494 · NICHD · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI GLEESON, JOSEPH G · 2011 to 2016
$6.7MMolecular Characterization of Joubert SyndromeR01NS048453 · NINDS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI GLEESON, JOSEPH G · 2004 to 2020
$6.0MDoublecortin In Neuronal MigrationR01NS041537 · NINDS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI GLEESON, JOSEPH G · 2002 to 2014
$3.9MMegalencephaly and segmental brain overgrowth in humansR01NS092772 · NINDS · SEATTLE CHILDREN'S HOSPITAL · PI MILLEN, KATHLEEN JOYCE · 2015 to 2019
$3.3MJouberin and Nephrocystin in Joubert SyndromeR01NS052455 · NINDS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI GLEESON, JOSEPH G · 2007 to 2015
$3.0MHigh Performance Computing Instrumentation for the Yale Center for Genome AnalysisS10OD030363 · OD · YALE UNIVERSITY · PI MANE, SHRIKANT M · 2022 to 2022
$1.2MHigh Performance Computing Instrumentation for the Yale Center for Genome AnalysiS10OD018521 · OD · YALE UNIVERSITY · PI MANE, SHRIKANT M · 2015 to 2015
$890kMolecular 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
$268kNICHD NIH HHS K99 HD082337NICHD NIH HHS P01 HD070494NICHD NIH HHS R00 HD082337NIH HHS S10 OD018521NIH HHS S10 OD030363NINDS NIH HHS P30 NS047101NINDS NIH HHS R01 NS041537NINDS NIH HHS R01 NS048453NINDS NIH HHS R01 NS052455NINDS NIH HHS R01 NS092772
Abstract
Neuronal migration defects, including pachygyria, are among the most severe developmental brain defects in humans. Here, we identify biallelic truncating mutations in CTNNA2, encoding αN-catenin, in patients with a distinct recessive form of pachygyria. CTNNA2 was expressed in human cerebral cortex, and its loss in neurons led to defects in neurite stability and migration. The αN-catenin paralog, αE-catenin, acts as a switch regulating the balance between β-catenin and Arp2/3 actin filament activities
Indexed as
Actin-Related Protein 2-3 Complexalpha CateninAnimalsCell MovementCerebral CortexEmbryo, MammalianGenome, HumanHumansMiceMice, Inbred C57BLMutationNerve Tissue ProteinsNeuronsPedigreeActin-Related Protein 2-3 Complexalpha CateninCTNNA2 protein, humanNerve Tissue Proteins
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