ArticleNature genetics2017
Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.
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Article in Nature genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 59 papers.
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59citing papers in PubMed
14.2field-weighted citation impact, top 1% of its field
What it found
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Who cites it
59 citing papers in PubMed, 100 citations in OpenAlex.
- Pontocerebellar hypoplasia linked mutations of the deadenylase Target of EGR1 (TOE1) impair thermal stability, ribonuclease activity, and oligomerization.The Journal of biological chemistry · 2026Article
- Integrative multi-omics analyses reveal nuclear noncoding RNA-mediated regulatory landscape in Alzheimer's disease.Archives of pharmacal research · 2026Article
- TOE1 is a β-catenin interacting protein regulating the proliferation of hematopoietic cells through PAK2 modulation.Stem cell reports · 2026Article
- EXOSC3 G191 Variants Trigger System-Wide Recalibration of RNA Processing Machinery.bioRxiv : the preprint server for biology · 2026Article
- Widespread mono- and oligoadenylation direct small noncoding RNA maturation versus degradation fates.The EMBO journal · 2026Article
- Article
- Biochemical characterizations of Pontocerebellar Hypoplasia linked mutations of Target of Egr1 (TOE1) reveal impacts on thermal stability, ribonuclease activity, and oligomerization.bioRxiv : the preprint server for biology · 2025Article
- Human CCR4 deadenylase homolog Angel1 is a non-stop mRNA decay factor.RNA (New York, N.Y.) · 2025Article
- Identification and functional analysis of a novel TBC1D23 pathogenic variant in a Chinese family with pontocerebellar hypoplasia.Human genomics · 2025Article
- Genetic modeling of degenerative diseases and mechanisms of neuronal regeneration in the zebrafish cerebellum.Cellular and molecular life sciences : CMLS · 2024Review
- Article
- The spike-and-slab quantile LASSO for robust variable selection in cancer genomics studies.Statistics in medicine · 2024Article
- Article
- Role of TOE1 variants at the nuclear localization motif in pontocerebellar hypoplasia 7.Journal of human genetics · 2024Article
- Case report: A severe clinical phenotype of pontocerebellar hypoplasia type 7 with compound heterozygous variants of TOE1.Heliyon · 2024Article
- Broadening the phenotype and genotype spectrum of novel mutations in pontocerebellar hypoplasia with a comprehensive molecular literature review.BMC medical genomics · 2024Article
- Sm complex assembly and 5' cap trimethylation promote selective processing of snRNAs by the 3' exonuclease TOE1.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Quantitative Biochemical Analysis of Deadenylase Enzymes Using Fluorescence and Chemiluminescence-Based Assays.Methods in molecular biology (Clifton, N.J.) · 2024Article
- Functional Insight into hTRIR.Current molecular medicine · 2024Article
- Coilin and Cajal bodies.Nucleus (Austin, Tex.) · 2023Review
Corrections and comments
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Authors and funding
59 authors at 20 institutions in 12 countries.
Rea M LardelliUniversity of California San Diego, La Jolla, California, USA.
Ashleigh E SchafferUniversity of California San Diego, La Jolla, California, USA.
Veerle R C EggensDepartment of Clinical Genetics, Academic Medical Center, Amsterdam, the Netherlands.
Maha S ZakiClinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
Stephanie GraingerDepartment of Cellular and Molecular Medicine, University of California San Diego, La Jolla, California, USA.
Shashank SatheDepartment of Cellular and Molecular Medicine, Stem Cell Program and Institute for Genomic Medicine, University of California San Diego, La Jolla, California, USA.
Eric L Van NostrandDepartment of Cellular and Molecular Medicine, Stem Cell Program and Institute for Genomic Medicine, University of California San Diego, La Jolla, California, USA.
Zinayida SchlachetzkiLaboratory of Pediatric Brain Disease and Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA.
Basak RostiLaboratory of Pediatric Brain Disease and Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA.
Naiara AkizuLaboratory of Pediatric Brain Disease and Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA.
Eric ScottLaboratory of Pediatric Brain Disease and Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA.
Jennifer L SilhavyLaboratory of Pediatric Brain Disease and Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA.
Laura Dean HeckmanLaboratory of Pediatric Brain Disease and Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA.
Rasim Ozgur RostiLaboratory of Pediatric Brain Disease and Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA.
Esra DikogluLaboratory of Pediatric Brain Disease and Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA.
Anne GregorLaboratory of Pediatric Brain Disease and Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA.
Alicia Guemez-GamboaLaboratory of Pediatric Brain Disease and Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA.
Damir MusaevLaboratory of Pediatric Brain Disease and Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA.
Rohit MandeLaboratory of Pediatric Brain Disease and Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA.
Ari WidjajaLaboratory of Pediatric Brain Disease and Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA.
Tim L ShawUniversity of California San Diego, La Jolla, California, USA.
Sebastian MarkmillerDepartment of Cellular and Molecular Medicine, Stem Cell Program and Institute for Genomic Medicine, University of California San Diego, La Jolla, California, USA.
Isaac Marin-ValenciaLaboratory of Pediatric Brain Disease and Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA.
Justin H DaviesDepartment of Paediatric Medicine, University Hospital Southampton NHS Foundation Trust, Southampton, UK.
Linda de MeirleirPediatric Neurology and Metabolic Diseases, Universitair Ziekenhuis Brussels, Vrije Universiteit Brussel, Brussels, Belgium.
Hulya KayseriliMedical Genetics Department, Koc University School of Medicine, Istanbul, Turkey.
Umut AltunogluMedical Genetics Department, Istanbul Medical Faculty, Istanbul University, Istanbul Turkey.
Mary Louise FreckmannDepartment of Clinical Genetics, The Canberra Hospital, Woden, Australian Capital Territory, Australia.
Linda WarwickAustralian Capital Territory Genetic Service, The Canberra Hospital, Canberra City, Australian Capital Territory, Australia.
David ChitayatDepartment of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.
Susan BlaserDivision of Neuroradiology, Department of Diagnostic Imaging, The Hospital for Sick Children, Toronto, Ontario, Canada.
Ahmet Okay ÇağlayanDepartment of Medical Genetics, School of Medicine, Istanbul Bilim University, Istanbul, Turkey.
Kaya BilguvarDepartment of Genetics, Yale Center for Genome Analysis, Yale University School of Medicine, New Haven, Connecticut, USA.
Huseyin PerDivision of Pediatric Neurology, Department of Pediatrics, Erciyes University School of Medicine, Kayseri, Turkey.
Christina FagerbergDepartment of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Henrik T ChristesenHans Christian Andersen Children's Hospital, Odense University Hospital, Odense, Denmark.
Maria KibaekHans Christian Andersen Children's Hospital, Odense University Hospital, Odense, Denmark.
Kimberly A AldingerCenter for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.
David ManchesterDepartment of Pediatrics, Clinical Genetics and Metabolism, University of Colorado School of Medicine, Children's Hospital Colorado, Aurora, Colorado, USA.
Naomichi MatsumotoDepartment of Human Genetics, Yokohama City University, Graduate School of Medicine, Yokohama, Japan.
Kazuhiro MuramatsuDepartment of Pediatrics, Gunma University School of Medicine, Showa-machi, Maebashi City, Japan.
Hirotomo SaitsuDepartment of Human Genetics, Yokohama City University, Graduate School of Medicine, Yokohama, Japan.
Masaaki ShiinaDepartment of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Kazuhiro OgataDepartment of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Nicola FouldsSouthampton University Hospitals Trust, Southampton, UK.
William B DobynsCenter for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.
Neil C ChiUCSD Cardiology, University of California San Diego, La Jolla, California, USA.
David TraverDepartment of Cellular and Molecular Medicine, University of California San Diego, La Jolla, California, USA.
Luigina SpacciniClinical Genetics Unit, Department of Women, Mother and Neonates, "Vittore Buzzi" Children's Hospital, Istituti Clinici di Perfezionamento, Milan, Italy.
Stefania Maria BovaChild Neurology Unit, Department of Pediatrics, "Vittore Buzzi" Children Hospital, Istituti Clinici di Perfezionamento, Milan, Italy.
Stacey B GabrielBroad Institute of Harvard and MIT, Cambridge, Massachusetts, USA.
Murat GunelYale Program on Neurogenetics, Departments of Neurosurgery, Neurobiology and Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.
Enza Maria ValenteSection of Neurosciences, Department of Medicine and Surgery, University of Salerno, Salerno, Italy.
Marie-Cecile NassognePediatric Neurology, Université Catholique de Louvain, Cliniques Universitaires Saint-Luc, Brussels, Belgium.
Eric J BennettUniversity of California San Diego, La Jolla, California, USA.
Gene W YeoDepartment of Cellular and Molecular Medicine, Stem Cell Program and Institute for Genomic Medicine, University of California San Diego, La Jolla, California, USA.
Frank BaasDepartment of Clinical Genetics, Academic Medical Center, Amsterdam, the Netherlands.ORCID http://orcid.org/0000-0003-3912-5428
Jens Lykke-AndersenUniversity of California San Diego, La Jolla, California, USA.
Joseph G GleesonUniversity of California San Diego, La Jolla, California, USA.
Howard Hughes Medical Institute · USUniversity of California San Diego · USOdense University Hospital · DKYokohama City University · JPAmsterdam UMC Location University of Amsterdam · NLCanberra Hospital · AUIstituti Clinici di Perfezionamento · ITUniversity Hospital Southampton NHS Foundation Trust · GBYale University · USAgency for Science, Technology and Research · SGBroad Institute · USChildren's Hospital Colorado · USCliniques Universitaires Saint-Luc · BEErciyes University · TRGunma University · JPHamamatsu University School of Medicine · JPHospital for Sick Children · CAIstanbul Bilim University · TRIstanbul University · TRKoç University · TR
Funding
Large Scale Sequencing and Analysis of GenomesU54HG003067 · NHGRI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI GABRIEL, STACEY, LANDER, ERIC S · 2004 to 2015
$568.6MUCSD/SDSU IRACDAK12GM068524 · NIGMS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI TREJO, JOANN · 2003 to 2025
$24.4MGENETIC MECHANISMS AND REGULATIONT32GM007240 · NIGMS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI HAMPTON, RANDOLPH Y. · 1985 to 2019
$23.8MJoint Center for Mendelian GenomicsUM1HG008900 · NHGRI · BROAD INSTITUTE, INC. · PI O'DONNELL-LURIA, ANNE, REHM, HEIDI L · 2016 to 2020
$16.5MUW Center for Mendelian GenomicsUM1HG006493 · NHGRI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, LEAL, SUZANNE M · 2016 to 2020
$15.3MFunctional RNA elements in the human genomeR01HG004659 · NHGRI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI Kevin Daniel Corbett, Eugene Wei-Ming Yeo · 2008 to 2026
$12.4MYale Center for Mendelian DisordersU54HG006504 · NHGRI · YALE UNIVERSITY · PI GERSTEIN, MARK BENDER, GUNEL, MURAT · 2012 to 2015
$11.0MDe novo copy number variation and gene discovery in human brain malformationsR01NS058721 · NINDS · UNIVERSITY OF CHICAGO · PI ARGILLI, EMANUELA · 2008 to 2025
$10.9MThe Genetic Basis of Mid-Hindbrain MalformationsR01NS050375 · NINDS · UNIVERSITY OF MINNESOTA · PI DOBYNS, WILLIAM B. · 2005 to 2019
$9.9MU 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
$6.0MEuropean Research Council 260888NHGRI NIH HHS R01 HG004659NHGRI NIH HHS U54 HG003067NHGRI NIH HHS U54 HG006504NHGRI NIH HHS UM1 HG006493NHGRI NIH HHS UM1 HG008900NICHD NIH HHS K99 HD082337NICHD NIH HHS P01 HD070494NICHD NIH HHS R00 HD082337NIGMS NIH HHS F32 GM106706NIGMS NIH HHS K12 GM068524NIGMS NIH HHS R01 GM077243NIGMS NIH HHS R35 GM118069NIGMS NIH HHS T32 GM007240NINDS NIH HHS P30 NS047101NINDS NIH HHS R01 NS041537NINDS NIH HHS R01 NS048453NINDS NIH HHS R01 NS050375NINDS NIH HHS R01 NS052455NINDS NIH HHS R01 NS058721NINDS NIH HHS R01 NS075449NINDS NIH HHS R01 NS098004
Abstract
Deadenylases are best known for degrading the poly(A) tail during mRNA decay. The deadenylase family has expanded throughout evolution and, in mammals, consists of 12 Mg
Indexed as
AllelesAnimalsCerebellar DiseasesExonucleasesFemaleHumansMaleMiceMutationNeurodegenerative DiseasesNuclear ProteinsRNA, MessengerRNA, Small NuclearSpliceosomesZebrafishExonucleasesNuclear ProteinsRNA, MessengerRNA, Small NuclearTOE1 protein, human
Identifiers
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