ArticleThe EMBO journal2018
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration.
Registry-linked trialOpen access · bronzeAbstract read
In one paragraph
Article in The EMBO journal, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02450851 (Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network), which is not on this map. Cited by 81 papers.
0numbers the graph read from it
0cells of the map it votes in
81citing papers in PubMed
8.9field-weighted citation impact, top 2% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network
Who cites it
81 citing papers in PubMed, 123 citations in OpenAlex.
- Microtubule posttranslational modifications provide unique recognition patterns for associated proteins.The EMBO journal · 2026Article
- Towards a systems-level view of the microtubule cytoskeleton and its functions in physiology and disease.Nature reviews. Molecular cell biology · 2026Review
- Tubulin glutamylation: a key regulator of flagella, cilia, centrosomes, and disease pathways.Journal of biomedical science · 2026Review
- Resilience to Diabetic Retinopathy (RDR) Is Associated with a Pre-Retinopathy Transcriptional Program Induced by Diabetes.Biomolecules · 2026Article
- HSP25 and HSP25-P-Ser15 Prompt Innate Neuroprotection in Lobe X of the Cerebellum.International journal of molecular sciences · 2026Article
- Article
- Human teratozoospermia-related AGTPBP1 R791H mutation is associated with sperm head and tail defects in a CRISPR-engineered murine model.Journal of assisted reproduction and genetics · 2026Article
- AAV-based gene therapy ameliorates neurological deficits in a mouse model of childhood-onset neurodegeneration with cerebellar atrophy.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Article
- AAV-based gene therapy ameliorates neurological deficits in a mouse model of childhood-onset neurodegeneration with cerebellar atrophy.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Article
- Specific Glutamylation Patterns of the Cytoskeleton Confer Neuroresistance to Lobe X of the Cerebellum in a Model of Childhood-Onset Neurodegeneration with Cerebellar Atrophy.International journal of molecular sciences · 2025Article
- Article
- Recombinant Monoclonal Antibodies for Detecting the Tubulin Post-Translational Modifications Glutamylation and Lysine-40 Acetylation.Cytoskeleton (Hoboken, N.J.) · 2025Article
- Doublecortin restricts neuronal branching by regulating tubulin polyglutamylation.Nature communications · 2025Article
- Non-canonical CDK6 activity promotes cilia disassembly by suppressing axoneme polyglutamylation.The Journal of cell biology · 2025Article
- Emerging roles for tubulin PTMs in neuronal function and neurodegenerative disease.Current opinion in neurobiology · 2025Review
- Neuroprotective Effects of VEGF-B in a Murine Model of Aggressive Neuronal Loss with Childhood Onset.International journal of molecular sciences · 2025Article
- Glutamylation imbalance impairs the molecular architecture of the photoreceptor cilium.The EMBO journal · 2024Article
- Physical exercise halts further functional decline in an animal model for Charcot-Marie-Tooth disease 1X at an advanced disease stage.Journal of the peripheral nervous system : JPNS · 2024Article
- Structural basis for α-tubulin-specific and modification state-dependent glutamylation.Nature chemical biology · 2024Article
- NEKL-4 regulates microtubule stability and mitochondrial health in ciliated neurons.The Journal of cell biology · 2024Article
21 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
61 authors at 20 institutions in 13 countries.
Vandana ShashiDivision of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA vandana.shashi@duke.edu carsten.janke@curie.fr jan.senderek@med.uni-muenchen.de.
Maria M MagieraInstitut Curie, CNRS UMR3348, PSL Research University, Orsay, France.ORCID 0000-0003-4847-3053
Dennis KleinDepartment of Neurology, Developmental Neurobiology, University Hospital Würzburg, Würzburg, Germany.
Maha ZakiClinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
Kelly SchochDivision of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
Sabine Rudnik-SchönebornDivision of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.
Andrew NormanDepartment of Clinical Genetics, St. Michael's Hospital, University Hospitals Bristol NHS Foundation Trust, Bristol, UK.
Osorio Lopes Abath NetoNeuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.
Marina DuslFriedrich Baur Institute at the Department of Neurology, Friedrich Baur Institute, University Hospital, LMU Munich, Munich, Germany.
Xidi YuanDepartment of Neurology, Developmental Neurobiology, University Hospital Würzburg, Würzburg, Germany.
Luca BartesaghiDepartment of Neuroscience and Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.
Patrizia De MarcoIRCCS Istituto Giannina Gaslini, Genova, Italy.
Ahmed A AlfaresDepartment of Pediatrics, College of Medicine, Qassim University, Qassim, Saudi Arabia.
Ronit MaromDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Stefan T AroldDivision of Biological and Environmental Sciences and Engineering (BESE), Computational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia.ORCID 0000-0001-5278-0668
Francisco J Guzmán-VegaDivision of Biological and Environmental Sciences and Engineering (BESE), Computational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia.
Loren Dm PenaDivision of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Edward C SmithDivision of Neurology, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
Maja SteinlinDivision of Neuropaediatrics, Development and Rehabilitation, University Children's Hospital, Inselspital, University of Bern, Bern, Switzerland.
Mohamed Oe BabikerNeurosciences Centre, Al Jalila Children's Hospital, Dubai, UAE.
Payam MohasselNeuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.
A Reghan FoleyNeuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.
Sandra DonkervoortNeuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.
Rupleen KaurNeuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.
Partha S GhoshDepartment of Neurology, Boston Children's Hospital, Boston, MA, USA.
Valentina StanleyLaboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, University of California, San Diego, CA, USA.
Damir MusaevLaboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, University of California, San Diego, CA, USA.
Caroline NavaDepartment of Genetics, Assistance Publique des Hôpitaux de Paris, Hôpital Pitié-Salpêtrière, Paris, France.
Cyril MignotDepartment of Genetics, Assistance Publique des Hôpitaux de Paris, Hôpital Pitié-Salpêtrière, Paris, France.
Boris KerenDepartment of Genetics, Assistance Publique des Hôpitaux de Paris, Hôpital Pitié-Salpêtrière, Paris, France.
Marcello ScalaIRCCS Istituto Giannina Gaslini, Genova, Italy.
Elisa TassanoIRCCS Istituto Giannina Gaslini, Genova, Italy.
Paolo PiccoIRCCS Istituto Giannina Gaslini, Genova, Italy.
Paola DonedaGrande Ospedale Metropolitano Niguarda, Milano, Italy.
Chiara FiorilloIRCCS Istituto Giannina Gaslini, Genova, Italy.
Mahmoud Y IssaClinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
Ali AlassiriDepartment of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia.ORCID 0000-0003-2550-5956
Ahmed AlahmadDepartment of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
Amanda GerardDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Pengfei LiuDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Yaping YangDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Birgit Ertl-WagnerDepartment of Diagnostic Imaging, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
Peter G KranzDivision of Neuroradiology, Department of Radiology, Duke University Medical Center, Durham, NC, USA.ORCID 0000-0001-5410-7135
Ingrid M WentzensenGeneDx, Gaithersburg, MD, USA.
Rolf StuckaFriedrich Baur Institute at the Department of Neurology, Friedrich Baur Institute, University Hospital, LMU Munich, Munich, Germany.
Nicholas StongInstitute of Genomic Medicine, Columbia University, New York, NY, USA.
Andrew S AllenCenter for Statistical Genetics and Genomics, Duke University Medical Center, Durham, NC, USA.
David B GoldsteinInstitute of Genomic Medicine, Columbia University, New York, NY, USA.
Undiagnosed Diseases Network
Benedikt SchoserFriedrich Baur Institute at the Department of Neurology, Friedrich Baur Institute, University Hospital, LMU Munich, Munich, Germany.
Kai M RöslerNeuromuscular Centre, University Department of Neurology, Inselspital, Bern, Switzerland.
Majid AlfadhelGenetics Division, Department of Pediatrics, King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
Valeria CapraIRCCS Istituto Giannina Gaslini, Genova, Italy.
Roman ChrastDepartment of Neuroscience and Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.
Tim M StromInstitute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
Erik-Jan KamsteegDepartment of Human Genetics, Donders Centre for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
Carsten G BönnemannNeuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.
Joseph G GleesonLaboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, University of California, San Diego, CA, USA.
Rudolf MartiniDepartment of Neurology, Developmental Neurobiology, University Hospital Würzburg, Würzburg, Germany.
Carsten JankeInstitut Curie, CNRS UMR3348, PSL Research University, Orsay, France vandana.shashi@duke.edu carsten.janke@curie.fr jan.senderek@med.uni-muenchen.de.ORCID 0000-0001-7053-2000
Jan SenderekFriedrich Baur Institute at the Department of Neurology, Friedrich Baur Institute, University Hospital, LMU Munich, Munich, Germany vandana.shashi@duke.edu carsten.janke@curie.fr jan.senderek@med.uni-muenchen.de.ORCID 0000-0002-8263-1783
Istituto Giannina Gaslini · ITNational Institute of Neurological Disorders and Stroke · USBaylor College of Medicine · USDuke Medical Center · USFriedrich Baur Stiftung · DEHoward Hughes Medical Institute · USCentre National de la Recherche Scientifique · FRUniversité Paris-Sud · FRColumbia University · USKarolinska Institutet · SEKing Abdulaziz Medical City · SAKing Abdullah University of Science and Technology · SAKing Saud bin Abdulaziz University for Health Sciences · SANational Research Centre · EGRadboud University Nijmegen · NLUniversitätsklinikum Würzburg · DEAl Jalila Foundation · AEAzienda Socio Sanitaria Territoriale Grande Ospedale Metropolitano Niguarda · ITBoston Children's Hospital · USCincinnati Children's Hospital Medical Center · US
Funding
Joint Center for Mendelian GenomicsUM1HG008900 · NHGRI · BROAD INSTITUTE, INC. · PI O'DONNELL-LURIA, ANNE, REHM, HEIDI L · 2016 to 2020
$16.5MAn integrated and diverse genomic medicine program for undiagnosed diseasesU01HG007672 · NHGRI · DUKE UNIVERSITY · PI SHASHI, VANDANA · 2014 to 2022
$13.4MYale Center for Mendelian DisordersU54HG006504 · NHGRI · YALE UNIVERSITY · PI GERSTEIN, MARK BENDER, GUNEL, MURAT · 2012 to 2015
$11.0MMolecular Characterization of Joubert SyndromeR01NS048453 · NINDS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI GLEESON, JOSEPH G · 2004 to 2020
$6.0MMolecular Characterization of Pontocerebellar HypoplasiaR01NS098004 · NINDS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI JOSEPH G GLEESON · 2016 to 2026
$4.6MHigh 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
$890kClinical Pursuits by the NHGRI Office of the Clinical DirectorZIAHG200402 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI GAHL, WILLIAM · 2019 to 2019
$122kNHGRI NIH HHS U01 HG007672NHGRI NIH HHS U54 HG006504NHGRI NIH HHS UM1 HG008900NIH HHS S10 OD018521NIH HHS S10 OD030363NINDS NIH HHS R01 NS048453NINDS NIH HHS R01 NS098004
Abstract
A set of glutamylases and deglutamylases controls levels of tubulin polyglutamylation, a prominent post-translational modification of neuronal microtubules. Defective tubulin polyglutamylation was first linked to neurodegeneration in the
Indexed as
CarboxypeptidasesCerebellumFemaleGTP-Binding ProteinsHumansMaleMotor NeuronsPeptidesPeripheral NervesProtein Processing, Post-TranslationalPurkinje CellsSerine-Type D-Ala-D-Ala CarboxypeptidaseSpineSpinocerebellar DegenerationsAGTPBP1 protein, humanCarboxypeptidasesGTP-Binding ProteinsPeptidespolyglutamineSerine-Type D-Ala-D-Ala Carboxypeptidasecerebellumcytosolic carboxypeptidase 1 (CCP1/AGTPBP1/NNA1)motor neuronneurodegenerationtubulin polyglutamylation
Identifiers
What OpenQuestion holds
Textmetadata
Read underepoch 390
Registered trials
NCT02450851ClinicalTrials.gov
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.