ArticleEMBO molecular medicine2026
Abnormal ClC-3/TMEM9-mediated endosomal ion transport in CLCN3-associated neurodevelopmental disease.
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Article in EMBO molecular medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Authors and funding
43 authors.
Maya M PolovitskayaLeibniz Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.ORCID http://orcid.org/0000-0002-8144-9824
Tinatin TkemaladzeDepartment of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia.
Lotte JensenDepartment of Pediatrics, Danish Epilepsy Center, Dianalund, Denmark.ORCID http://orcid.org/0000-0001-7855-4036
Sumanta KarLeibniz Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.
Rosa Planells-CasesLeibniz Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.ORCID http://orcid.org/0000-0002-9841-8434
Emanuele AgoliniLaboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, Rome, Italy.
Pankaj B AgrawalDivision of Neonatology, Department of Pediatrics, University of Miami Miller School of Medicine and Holtz Children's Hospital, Jackson Health System, Miami, FL, USA.
Paolo AlfieriChild and Adolescent Neuropsychiatry Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Tahsin Stefan BarakatDepartment of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.ORCID http://orcid.org/0000-0003-1231-1562
Miriam BertrandInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Pamela BowmanClinical Genetics Department, RDUH NHS Foundation Trust, Exeter, UK.
Alice S BrooksDepartment of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
Ange-Line BruelUniversité Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU-TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France.
Sara CabetPediatric and Fetal Imaging Department, Hôpital Femme-Mère-Enfant, Hospices Civils de Lyon, Lyon, France.
Karolina ChwialkowskaLaboratory of Computational Molecular Medicine, Clinical Research Centre, Medical University of Bialystok, Bialystok, Poland.ORCID http://orcid.org/0000-0001-8053-8959
Giovanna Stefania ColafatiOncological Neuroradiology and Advanced Diagnostics Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Julian DelanneUniversité Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM UMR1231, équipe GAD, FHU TRANSLAD, Centre de génétique, Centre de référence Anomalies du Développement et Syndromes Malformatifs, Centre de référence Déficiences Intellectuelles de Causes Rares, et Centre de référence GénoPsy, Dijon, France.
Laurence FaivreUniversité Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM UMR1231, équipe GAD, FHU TRANSLAD, Centre de génétique, Centre de référence Anomalies du Développement et Syndromes Malformatifs, Centre de référence Déficiences Intellectuelles de Causes Rares, et Centre de référence GénoPsy, Dijon, France.
Cristina FeltonUF Health Jacksonville Genetics and Genomics, Jacksonville, FL, USA.
Ute GrasshoffInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Anne-Marie GuerrotDepartment of Genetics and Reference Center for Developmental Disorders, Normandie Université, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France.
Tobias B HaackInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Claudia HaaseHelios Hospital Erfurt, Department of Pediatrics, Erfurt, Germany.
Ashley R HelsethAtrium Health Levine Children's Neurology, Charlotte, NC, USA.ORCID http://orcid.org/0000-0002-7383-823X
Katrien JanssensCenter of Medical Genetics, Antwerp University Hospital/ University of Antwerp, Edegem, Belgium.
Amjad KhanInstitute of Biological Sciences, Department of Zoology, University of Lakki Marwat Khyber Pakhtunkhwa, Lakki Marwat, Pakistan.ORCID http://orcid.org/0000-0002-4149-9544
Margarete Koch-HogrebeVestische Kinder- und Jugendklinik, Datteln, Germany.
Joshua MandelbergDevelopmental-Behavioral Pediatrics, Private Practice, Los Angeles, CA, USA.
Elisabeth MangoldInstitute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.
Elene MelikidzeDepartment of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia.ORCID http://orcid.org/0009-0007-0710-7985
Marije MeuwissenCenter of Medical Genetics, Antwerp University Hospital/ University of Antwerp, Edegem, Belgium.
Ieva MičuleChildren's Clinical University Hospital, Riga, Latvia.ORCID http://orcid.org/0000-0003-2863-733X
Brittany NobleGeneDx, LLC, Gaithersburg, MD, USA.
Konrad PlatzerInstitute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
Dmitrijs RotsDepartment of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
Catherin SarretDepartment of Genetics, CHU de Clermont-Ferrand, Clermont-Ferrand, France.
Ariane SchmetzZotz/Klimas, MVZ für Interdisziplinäre Medizin IDM, Aachen, Germany.
Amelle ShillingtonDepartment of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Frédéric Tran-Mau-ThemUniversité Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231, équipe GAD, Dijon, France.
Dagmar WieczorekHeinrich-Heine-University Düsseldorf, Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Düsseldorf, Germany.
Gaetan LescaUniversity Hospitals of Lyon (HCL), Department of Genetics, Member of the ERN EpiCARE, Lyon, France.
Allan BayatDepartment of Pediatrics, Danish Epilepsy Center, Dianalund, Denmark. abaya@filadelfia.dk.ORCID http://orcid.org/0000-0003-4986-8006
Thomas J JentschLeibniz Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany. jentsch@fmp-berlin.de.ORCID http://orcid.org/0000-0002-3509-2553
Funding
Deutsche Forschungsgemeinschaft (DFG) 542553983Deutsche Forschungsgemeinschaft (DFG) FOR 2652 (Je164/14-1,2)Deutsche Forschungsgemeinschaft (DFG) Je164/17-1European Commission (EC) GAP-101080997NeuroCure Exzellenzcluster (NeuroCure Cluster of Excellence) 390688087
Abstract
Endolysosomal abnormalities are particularly detrimental to the nervous system and have been implicated in neuropsychiatric disorders. Key regulators of the lysosomal and endosomal luminal ion homeostasis are CLC chloride/proton exchangers. We report 15 individuals carrying variants in CLCN3, encoding a ubiquitous endosomal 2Cl
Indexed as
Chloride ChannelsEndosomesMembrane ProteinsNeurodevelopmental DisordersChildChild, PreschoolFemaleHumansIon TransportMaleMutation, MissenseChloride ChannelsClC-3 channelMembrane Proteins
Identifiers
What Socratic holds
Textmetadata
Read underepoch 390
Registered trials
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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 Socratic graph.