ArticleScience (New York, N.Y.)2024
Brain malformations and seizures by impaired chaperonin function of TRiC.
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Article in Science (New York, N.Y.), 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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15citing papers in PubMed
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Who cites it
15 citing papers in PubMed.
- Further delineation of 2p13.2-p11.2 deletion syndrome by optical genome mapping.Neurogenetics · 2026Article
- Integration of CCT/TRiC assembly, degradation and function: Chaperonin complexity in a cellular context.Cell stress & chaperones · 2026Review
- Alterations of actin in aging.Journal of cell science · 2026Review
- MSTO1 functions as a TRiC assembly factor linking cytosolic proteostasis to mitochondrial function.bioRxiv : the preprint server for biology · 2026Article
- CCT2 regulates the proliferation, apoptosis, and cell cycle arrest of multiple myeloma cells through the P53 signalling pathway.Scientific reports · 2026Article
- Article
- Domain-selective folding of the tandem β-propeller protein Coronin 7 (Coro7) by the chaperonin CCT/TRiC.The Journal of biological chemistry · 2026Article
- The chaperonin TRiC component Cct3 is required for axonal transport, myelination, and neuromuscular junction refinement.Cell death & disease · 2026Article
- CHK1 inhibition rescues abnormal glycogen buildup in a Caenorhabditis elegans model for glycogen storage disease III.Communications biology · 2026Article
- Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy.medRxiv : the preprint server for health sciences · 2025Article
- Visualizing dynamic tubulin folding in chaperonin TRiC from nonnative nucleus to final native state.Nature communications · 2025Article
- Impaired Aggrephagy, Interrupted Vesicular Trafficking, and Cellular Stress, Lead to Protein Aggregation, and Synaptic Dysfunction in Cerebellum of Children and Adults with Idiopathic Autism.Cerebellum (London, England) · 2025Article
- Gene expression asymmetry in Parkinson's disease: variation ofFrontiers in molecular neuroscience · 2025Article
- Protein quality control systems in neurodegeneration - culprits, mitigators, and solutions?Frontiers in neurology · 2025Review
- Beyond Misfolding: A New Paradigm for the Relationship Between Protein Folding and Aggregation.International journal of molecular sciences · 2024Review
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Authors and funding
87 authors.
Florian Kraft *Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.ORCID 0000-0002-5324-9155
Piere Rodriguez-Aliaga *Department of Biology, Stanford University, Stanford, CA 94305, USA.ORCID 0000-0002-3828-4235
Weimin Yuan *Department of Pediatrics, Washington University in St. Louis School of Medicine, St. Louis, MO 63110, USA.ORCID 0009-0009-1447-1982
Lena FrankenInstitute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.ORCID 0009-0000-5148-8526
Kamil ZajtInstitute of Neuropathology, RWTH Aachen University Hospital, Aachen 52074, Germany.ORCID 0000-0001-6280-3464
Dimah HasanDepartment for Diagnostic and Interventional Neuroradiology, RWTH Aachen University Hospital, Aachen 52074, Germany.
Ting-Ting LeeDepartment of Biology, Stanford University, Stanford, CA 94305, USA.ORCID 0000-0003-1010-3292
Elisabetta FlexDepartment of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome 00161, Italy.ORCID 0000-0002-6802-1356
Andreas HentschelLeibniz- Institut für Analytische Wissenschaften -ISAS- e.V., Dortmund 44139, Germany.
A Micheil InnesDepartment of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary T2N 1N4, Canada.ORCID 0000-0001-9881-5467
Bixia ZhengNanjing Key Laboratory of Pediatrics, Children's Hospital of Nanjing Medical University, Nanjing 210008, China.
Dong Sun Julia SuhInstitute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.
Cordula KnoppInstitute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.ORCID 0000-0002-6126-6078
Eva LausbergInstitute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.
Jeremias KrauseInstitute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.ORCID 0000-0001-9915-7400
Xiaomeng ZhangInstitute of Neuropathology, RWTH Aachen University Hospital, Aachen 52074, Germany.
Pamela TrapaneDivision of Pediatric Genetics, Department of Pediatrics, University of Florida College of Medicine-Jacksonville, Jacksonville, FL 32209, USA.ORCID 0000-0001-9201-882X
Riley CarrollDivision of Pediatric Genetics, Department of Pediatrics, University of Florida College of Medicine-Jacksonville, Jacksonville, FL 32209, USA.
Martin McClatcheyInstitute of Medical Genetics, University Hospital of Wales, Cardiff CF14 4XW, UK.ORCID 0000-0002-0982-5522
Andrew E FryDivision of Cancer and Genetics, Cardiff University, Heath Park, Cardiff CF14 4XN, UK.ORCID 0000-0001-9778-6924
Lisa WangInstitute of Neuropathology, RWTH Aachen University Hospital, Aachen 52074, Germany.ORCID 0009-0008-4826-1425
Sebastian GiesselmannInstitute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.
Hieu HoangDepartment of Pediatrics, Washington University in St. Louis School of Medicine, St. Louis, MO 63110, USA.ORCID 0000-0002-5893-7651
Dustin BaldridgeDepartment of Pediatrics, Washington University in St. Louis School of Medicine, St. Louis, MO 63110, USA.ORCID 0000-0002-6027-6020
Gary A SilvermanDepartment of Pediatrics, Washington University in St. Louis School of Medicine, St. Louis, MO 63110, USA.ORCID 0000-0002-2686-2843
Francesca Clementina RadioMolecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù IRCCS, Rome 00146, Italy.ORCID 0000-0003-1993-8018
Enrico BertiniNeuromuscular Disorders, Ospedale Pediatrico Bambino Gesù IRCCS, Rome 00146, Italy.ORCID 0000-0001-9276-4590
Andrea CiolfiMolecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù IRCCS, Rome 00146, Italy.ORCID 0000-0002-6191-0978
Katherine A BloodDepartment of Medical Genetics, University of British Columbia, Vancouver, BC V6T 2A1, Canada.ORCID 0000-0003-1009-6838
Jean-Madeleine de Sainte AgatheDepartment of Medical Genetics, Pitié-Salpêtrière Hospital, AP-HP.Sorbonne University, Paris 75005, France.ORCID 0000-0002-7753-8226
Perrine CharlesDepartment of Medical Genetics, Pitié-Salpêtrière Hospital, AP-HP.Sorbonne University, Paris 75005, France.
Gaber BergantClinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana 1000, Slovenia.ORCID 0000-0003-4498-1042
Goran ČuturiloFaculty of Medicine, University of Belgrade, 11000 Belgrade, Serbia, and University Children's Hospital, 11000 Belgrade, Serbia.
Borut PeterlinClinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana 1000, Slovenia.
Karin DiderichDepartment of Clinical Genetics, Erasmus Medical Center, Rotterdam 3015 GD, Netherlands.ORCID 0000-0003-2637-9998
Haley StreffDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.ORCID 0000-0002-9829-649X
Laurie RobakDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Renske OegemaDepartment of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht 3584 CX, Netherlands.ORCID 0000-0002-7146-617X
Ellen van BinsbergenDepartment of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht 3584 CX, Netherlands.
John HerrigesDepartment of Pathology and Laboratory Medicine, Children's Mercy-Kansas City, Kansas City, MO 64108, USA.
Carol J SaundersDepartment of Pathology and Laboratory Medicine, Children's Mercy-Kansas City, Kansas City, MO 64108, USA.ORCID 0000-0002-7407-7735
Andrea MaierDepartment of Neurology, University Hospital, RWTH Aachen University, Aachen 52074, Germany.ORCID 0000-0002-3427-4806
Stefan WolkingDepartment of Epileptology and Neurology, Medical Faculty, RWTH Aachen University, Aachen 52074, Germany.ORCID 0000-0002-1460-6623
Yvonne WeberDepartment of Epileptology and Neurology, Medical Faculty, RWTH Aachen University, Aachen 52074, Germany.ORCID 0000-0002-0806-5592
Hanns LochmüllerChildren's Hospital of Eastern Ontario Research Institute, Division of Neurology, Department of Medicine, The Ottawa Hospital, and Brain and Mind Research Institute, University of Ottawa, Ottawa K1H 8L1, Canada.ORCID 0000-0003-2324-8001
Stefanie MeyerChildren's Hospital of Eastern Ontario Research Institute, Division of Neurology, Department of Medicine, The Ottawa Hospital, and Brain and Mind Research Institute, University of Ottawa, Ottawa K1H 8L1, Canada.
Alberto AlemanChildren's Hospital of Eastern Ontario Research Institute, Division of Neurology, Department of Medicine, The Ottawa Hospital, and Brain and Mind Research Institute, University of Ottawa, Ottawa K1H 8L1, Canada.
Kiran PolavarapuChildren's Hospital of Eastern Ontario Research Institute, Division of Neurology, Department of Medicine, The Ottawa Hospital, and Brain and Mind Research Institute, University of Ottawa, Ottawa K1H 8L1, Canada.ORCID 0000-0002-8879-6001
Gael NicolasUniv Rouen Normandie, Normandie univ, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Neurogenetics Diorders, F-76000 Rouen, France.ORCID 0000-0001-9391-7800
Alice GoldenbergUniv Rouen Normandie, Normandie univ, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Neurogenetics Diorders, F-76000 Rouen, France.ORCID 0000-0002-5864-9182
Lucie GuyantUniv Rouen Normandie, Normandie univ, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Neurogenetics Diorders, F-76000 Rouen, France.
Kathleen PopeUniversity of South Florida, College of Public Health, Tampa, FL 33612, USA.ORCID 0000-0003-1856-9732
Katherine N HehmeyerNemours Children's Health, Department of Pediatrics, Division of Genetics, Orlando, FL 32827, USA.
Kristin G MonaghanGeneDx, Gaithersburg, MD 20877, USA.
Annegret QuadeDivision of Pediatric Neurology and Social Pediatrics, Department of Pediatrics, University Hospital RWTH Aachen, Aachen 52074, Germany.
Thomas SmolDepartment of Clinical Genetics, Lille University Hospital, CHU Lille, Lille 59000, France.ORCID 0000-0002-0119-5896
Roseline CaumesDepartment of Clinical Genetics, Lille University Hospital, CHU Lille, Lille 59000, France.ORCID 0000-0002-7767-5087
Sarah DuerinckxDepartment of Pediatric Neurology, Hôpital Universitaire de Bruxelles, Hôpital Erasme, Université Libre de Bruxelles, Brussels 1070, Belgium.ORCID 0000-0003-2919-0664
Chantal DepondtDepartment of Neurology, Hôpital Universitaire de Bruxelles, Hôpital Erasme, Université Libre de Bruxelles, Brussels 1070, Belgium.ORCID 0000-0002-8452-5319
Wim Van PaesschenLaboratory for Epilepsy Research, KU Leuven, Leuven 3000, Belgium.ORCID 0000-0002-8535-1699
Claudine RieublandDepartment of Medical Genetics, Central Institute of the Hospitals, Hospital of the Valais, Sion 1951, Switzerland.
Claudia PoloniDepartment of Medical Genetics, Central Institute of the Hospitals, Hospital of the Valais, Sion 1951, Switzerland.ORCID 0009-0002-3561-3694
Michel GuipponiDepartment of Genetic Medicine, University Hospitals of Geneva and University of Geneva Medical Faculty, Geneva 1205, Switzerland.
Severine ArcioniDepartment of Medical Genetics, Central Institute of the Hospitals, Hospital of the Valais, Sion 1951, Switzerland.
Marije MeuwissenCenter of Medical Genetics, Antwerp University Hospital/ University of Antwerp, Edegem 2650, Belgium.ORCID 0000-0001-9226-8159
Anna C JansenDepartment of Pediatrics, Division of Child Neurology, Antwerp University Hospital, University of Antwerp, Edegem 2650, Belgium.ORCID 0000-0002-3835-2824
Jessica RosenblumCenter of Medical Genetics, Antwerp University Hospital/ University of Antwerp, Edegem 2650, Belgium.ORCID 0009-0004-5762-5260
Tobias B HaackInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen 72076, Germany.ORCID 0000-0001-6033-4836
Miriam BertrandInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen 72076, Germany.
Lea GerstnerInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen 72076, Germany.
Janine MaggDepartment of Neuropediatrics, Developmental Neurology, Social Pediatrics, University Children's Hospital, University of Tübingen, Tübingen 72076, Germany.ORCID 0000-0002-2752-2058
Olaf RiessInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen 72076, Germany.ORCID 0000-0002-7011-1369
Jörg B SchulzDepartment of Neurology, University Hospital, RWTH Aachen University, Aachen 52074, Germany.ORCID 0000-0002-8903-0593
Norbert WagnerCenter for Rare Diseases Aachen (ZSEA), RWTH Aachen University Hospital, Aachen 52074, Germany.
Martin WiesmannDepartment for Diagnostic and Interventional Neuroradiology, RWTH Aachen University Hospital, Aachen 52074, Germany.ORCID 0000-0002-8261-5513
Joachim WeisInstitute of Neuropathology, RWTH Aachen University Hospital, Aachen 52074, Germany.ORCID 0000-0003-3280-6773
Thomas EggermannInstitute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.
Matthias BegemannInstitute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.ORCID 0000-0002-4659-8437
Andreas RoosChildren's Hospital of Eastern Ontario Research Institute, Division of Neurology, Department of Medicine, The Ottawa Hospital, and Brain and Mind Research Institute, University of Ottawa, Ottawa K1H 8L1, Canada.ORCID 0000-0003-2833-0928
Martin HäuslerCenter for Rare Diseases Aachen (ZSEA), RWTH Aachen University Hospital, Aachen 52074, Germany.ORCID 0000-0002-8433-8919
Tim SchedlDepartment of Genetics, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA.ORCID 0000-0003-2148-2996
Marco TartagliaMolecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù IRCCS, Rome 00146, Italy.ORCID 0000-0001-7736-9672
Juliane BremerInstitute of Neuropathology, RWTH Aachen University Hospital, Aachen 52074, Germany.ORCID 0000-0002-0268-9425
Stephen C PakDepartment of Pediatrics, Washington University in St. Louis School of Medicine, St. Louis, MO 63110, USA.ORCID 0000-0002-8089-3237
Judith FrydmanDepartment of Biology, Stanford University, Stanford, CA 94305, USA.ORCID 0000-0003-2302-6943
Miriam Elbracht *Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.ORCID 0000-0001-5088-1369
Ingo Kurth *Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.ORCID 0000-0002-5642-8378
Funding
Enhancing and expanding the CGC Strain CollectionP40OD010440 · OD · UNIVERSITY OF MINNESOTA · PI Aric L Daul, Ann E. Rougvie · 2012 to 2026
$7.5MMechanism of the Eukaryotic Chaperonin TRiC/CCTR01GM074074 · NIGMS · STANFORD UNIVERSITY · PI FRYDMAN, JUDITH · 2005 to 2024
$6.8MPROTEIN FOLDING IN THE EUKARYOTIC CYTOSOLR01GM056433 · NIGMS · STANFORD UNIVERSITY · PI Judith Frydman · 1997 to 2026
$5.0MProtein Folding in the Eukaryotic CytosolR37GM056433 · NIGMS · STANFORD UNIVERSITY · PI FRYDMAN, JUDITH · 2013 to 2022
$4.6MMulti-organism platform for functional assessment of human birth defect associated genomic variantsR01HD110556 · NICHD · WASHINGTON UNIVERSITY · PI AARON N JOHNSON, Kristen L Kroll · 2023 to 2026
$2.5MNICHD NIH HHS R01 HD110556NIGMS NIH HHS R01 GM056433NIGMS NIH HHS R01 GM074074NIGMS NIH HHS R37 GM056433NIH HHS P40 OD010440Wellcome Trust
Abstract
Malformations of the brain are common and vary in severity, from negligible to potentially fatal. Their causes have not been fully elucidated. Here, we report pathogenic variants in the core protein-folding machinery TRiC/CCT in individuals with brain malformations, intellectual disability, and seizures. The chaperonin TRiC is an obligate hetero-oligomer, and we identify variants in seven of its eight subunits, all of which impair function or assembly through different mechanisms. Transcriptome and proteome analyses of patient-derived fibroblasts demonstrate the various consequences of TRiC impairment. The results reveal an unexpected and potentially widespread role for protein folding in the development of the central nervous system and define a disease spectrum of "TRiCopathies."
Indexed as
BrainChaperonin Containing TCP-1Protein FoldingSeizuresAdultCaenorhabditis elegansFibroblastsHumansIntellectual DisabilityMagnetic Resonance ImagingMaleProtein SubunitsProteomeTranscriptomeChaperonin Containing TCP-1Protein SubunitsProteome
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