Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder

Patrick R Blackburn¹, Frédéric Ebstein^{2

3}, Tzung-Chien Hsieh⁴, Marialetizia Motta⁵, Francesca Clementina Radio⁵, Johanna C Herkert⁶, Tuula Rinne⁷, Isabelle Thiffault^{8

9}, Michele Rapp¹⁰, Mariel Alders¹¹, Saskia Maas¹¹, Bénédicte Gerard¹², Thomas Smol¹³, Catherine Vincent-Delorme¹⁴, Benjamin Cogné^{3

15}, Bertrand Isidor^{3

15}, Marie Vincent^{3

15}, Ruxandra Bachmann-Gagescu^{16

17}, Anita Rauch¹⁶, Pascal Joset¹⁸, Giovanni Battista Ferrero¹⁹, Andrea Ciolfi⁵, Thomas Husson^{20

21}, Anne-Marie Guerrot²¹, Carlos Bacino²², Colleen Macmurdo²³, Stephanie S Thompson²³, Jill A Rosenfeld^{22

24}, Laurence Faivre^{25

26}, Frederic Tran Mau-Them^{26

27}, Wallid Deb^{3

15}, Virginie Vignard^{3

15}, Pankaj B Agrawal^{28

29}, Jill A Madden^{28

29}, Alice Goldenberg²¹, François Lecoquierre²¹, Michael Zech^{30

31

32}, Holger Prokisch^{30

31

32}, Ján Necpál^{33

34}, Robert Jech³⁵, Juliane Winkelmann^{36

37

38

39}, Monika Turčanová Koprušáková⁴⁰, Vassiliki Konstantopoulou⁴¹, John R Younce⁴², Marwan Shinawi^{43

44}, Chloe Mighton^{45

46}, Charlotte Fung^{47

48}, Chantal F Morel^{47

49}, Jordan Lerner-Ellis^{50

51

52}, Stephanie DiTroia⁵³, Magalie Barth^{54

55}, Dominique Bonneau⁵⁴, Ingrid Krapels^{56

57}, Alexander P A Stegmann^{56

57}, Vyne van der Schoot^{56

57}, Theresa Brunet^{58

59}, Cornelia Bußmann⁶⁰, Cyril Mignot⁶¹, Giuseppe Zampino^{62

63}, Saskia B Wortmann⁶⁴, Johannes A Mayr⁶⁴, René G Feichtinger⁶⁴, Thomas Courtin⁶⁵, Claudia Ravelli⁶⁶, Boris Keren⁶¹, Alban Ziegler^{55

67}, Linda Hasadsri⁶⁸, Pavel N Pichurin⁶⁹, Eric W Klee^{69

70

71}, Katheryn Grand⁷², Pedro A Sanchez-Lara⁷², Elke Krüger², Stéphane Bézieau^{3

15}, Hannah Klinkhammer^{4

73}, Peter Michael Krawitz⁴, Evan E Eichler^{74

75}, Marco Tartaglia⁵, Sébastien Küry^{3

15}, Tianyun Wang^{76

77

78

79}

Affiliations

¹ Department of Pathology, St. Jude Children's Research Hospital, Memphis, TN, USA.
² Institute of Medical Biochemistry and Molecular Biology, University Medicine Greifswald, Greifswald, Germany.
³ Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du Thorax, Nantes, France.
⁴ Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.
⁵ Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
⁶ Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
⁷ Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
⁸ Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO, USA.
⁹ Department of Pathology and Laboratory Medicine, Children's Mercy Hospitals, Kansas City, MO, USA.
¹⁰ Department of Pediatrics-Clinical Genetics and Metabolism, Children's Hospital Colorado, Aurora, CO, USA.
¹¹ Amsterdam University Medical Center, University of Amsterdam, Department of Clinical Genetics, Amsterdam, The Netherlands.
¹² Unité de Biologie et de Génétique Moléculaire, Center Hospitalier Universitaire de Strasbourg, Strasbourg, France.
¹³ Univ Lille, CHU Lille, RADEME Team, Institut de Génétique Médicale, Lille, France.
¹⁴ Department of Clinical Genetics, Hôpital Jeanne de Flandre, CHU Lille, Lille, France.
¹⁵ Nantes Université, CHU de Nantes, Service de Génétique Médicale, Nantes, France.
¹⁶ Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland.
¹⁷ Department of Molecular Life Sciences, University of Zurich, Zurich, Switzerland.
¹⁸ Medical Genetics, Institute of Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland.
¹⁹ Department of Clinical and Biological Sciences, San Luigi Gonzaga University Hospital, University of Torino, Turin, Italy.
²⁰ Department of Research, Center Hospitalier du Rouvray, Rouen, France.
²¹ Normandie Univ, UNIROUEN, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, Rouen, France.
²² Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
²³ Division of Medical Genetics, Department of Internal Medicine, Baylor Scott and White Medical Center, Temple, TX, USA.
²⁴ Baylor Genetics, Houston, TX, USA.
²⁵ Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD CHU, Dijon, France.
²⁶ INSERM UMR1231, équipe GAD, Université de Bourgogne-Franche Comté, Dijon, France.
²⁷ Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.
²⁸ Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston, MA, USA.
²⁹ Division of Neonatology, Department of Pediatrics, University of Miami Miller School of Medicine and Holtz Children's Hospital, Jackson Health System, Miami, FL, USA.
³⁰ Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.
³¹ Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.
³² Institute for Advanced Study, Technical University of Munich, Garching, Germany.
³³ Department of Neurology, Zvolen Hospital, Zvolen, Slovakia.
³⁴ Department of Neurology, Faculty of Medicine, Comenius University, Bratislava, Slovakia.
³⁵ Department of Neurology, Charles University, First Faculty of Medicine and General University Hospital, Prague, Czech Republic.
³⁶ Institute of Neurogenomics, Helmholtz Zentrum Muenchen, Neuherberg, Germany.
³⁷ Neurogenetics, Technische Universitaet Muenchen, Munich, Germany.
³⁸ Institute of Human Genetics, Klinikum rechts der Isar der TUM, Munich, Germany.
³⁹ Munich Cluster for Systems Neurology (SyNergy), Munich, Germany.
⁴⁰ Jessenius Faculty of Medicine in Martin, Comenius University Bratislava, Martin, Slovakia.
⁴¹ Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.
⁴² Department of Neurology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
⁴³ Division of Genetics and Genomic Medicine, St. Louis Children's Hospital, St. Louis, MO, USA.
⁴⁴ Department of Neurology, Washington University School of Medicine, St. Louis, MO, USA.
⁴⁵ Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Canada.
⁴⁶ Genomics Health Services and Policy Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, Toronto, Canada.
⁴⁷ The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network and Sinai Health System, Toronto, Canada.
⁴⁸ Department of Molecular Genetics, University of Toronto, Toronto, Canada.
⁴⁹ Department of Medicine, University of Toronto, Toronto, Canada.
⁵⁰ Pathology and Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, Canada.
⁵¹ Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Canada.
⁵² Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, Canada.
⁵³ Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
⁵⁴ Department of Biochemistry and Genetics, University Hospital of Angers, Angers, France.
⁵⁵ Mitovasc Unit, UMR CNRS 6015-INSERM 1083, Angers, France.
⁵⁶ Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
⁵⁷ Department of Clinical Genetics and School for Oncology and Developmental Biology, Maastricht UMC, Maastricht, The Netherlands.
⁵⁸ Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.
⁵⁹ Dr. v. Hauner Children's Hospital, Department of Pediatric Neurology and Developmental Medicine, LMU-University of Munich, Munich, Germany.
⁶⁰ Department of Neuropediatrics, ATOS Klinik Heidelberg, Heidelberg, Germany.
⁶¹ Département de Génétique, AP-HP-Sorbonne Université, Hôpital Trousseau & Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
⁶² Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
⁶³ Dipartimento di Scienze Della Vita e Sanità Pubblica, Università Cattolica del Sacro Cuore, Rome, Italy.
⁶⁴ University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria.
⁶⁵ Center for Molecular and Chromosomal Genetics, AP-HP-Sorbonne University, Pitié-Salpêtrière Hospital, Paris, France.
⁶⁶ Department of Pediatric Neurology and Neurogenetic Referral Center, AP-HP-Sorbonne Université, Armand Trousseau Hospital, Paris, France.
⁶⁷ Department of Biochemistry and Genetics, Angers University Hospital and UMR CNRS, Angers, France.
⁶⁸ Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
⁶⁹ Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
⁷⁰ Department of Quantitative Health Sciences Research, Mayo Clinic, Rochester, MN, USA.
⁷¹ Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.
⁷² Department of Pediatrics, Guerin Children's at Cedars-Sinai Medical Center, Los Angeles, CA, USA.
⁷³ Institute of Medical Biometry, Informatics and Epidemiology, University of Bonn, Bonn, Germany.
⁷⁴ Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
⁷⁵ Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA.
⁷⁶ Department of Medical Genetics, Center for Medical Genetics, School of Basic Medical Sciences, Peking University, Beijing, China.
⁷⁷ Neuroscience Research Institute, Peking University, Beijing, China.
⁷⁸ Key Laboratory for Neuroscience, Ministry of Education of China & National Health Commission of China, Beijing, China.
⁷⁹ Autism Research Center, Peking University Health Science Center, Beijing, China.

PMID: 39301775
PMCID: PMC11922793 (available on 2026-03-20)
DOI: 10.1002/ana.27077

Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder

Patrick R Blackburn et al. Ann Neurol. 2024.

. 2024 Sep 20:10.1002/ana.27077.

doi: 10.1002/ana.27077. Online ahead of print.

Authors

Affiliations

¹ Department of Pathology, St. Jude Children's Research Hospital, Memphis, TN, USA.
² Institute of Medical Biochemistry and Molecular Biology, University Medicine Greifswald, Greifswald, Germany.
³ Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du Thorax, Nantes, France.
⁴ Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.
⁵ Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
⁶ Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
⁷ Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
⁸ Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO, USA.
⁹ Department of Pathology and Laboratory Medicine, Children's Mercy Hospitals, Kansas City, MO, USA.
¹⁰ Department of Pediatrics-Clinical Genetics and Metabolism, Children's Hospital Colorado, Aurora, CO, USA.
¹¹ Amsterdam University Medical Center, University of Amsterdam, Department of Clinical Genetics, Amsterdam, The Netherlands.
¹² Unité de Biologie et de Génétique Moléculaire, Center Hospitalier Universitaire de Strasbourg, Strasbourg, France.
¹³ Univ Lille, CHU Lille, RADEME Team, Institut de Génétique Médicale, Lille, France.
¹⁴ Department of Clinical Genetics, Hôpital Jeanne de Flandre, CHU Lille, Lille, France.
¹⁵ Nantes Université, CHU de Nantes, Service de Génétique Médicale, Nantes, France.
¹⁶ Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland.
¹⁷ Department of Molecular Life Sciences, University of Zurich, Zurich, Switzerland.
¹⁸ Medical Genetics, Institute of Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland.
¹⁹ Department of Clinical and Biological Sciences, San Luigi Gonzaga University Hospital, University of Torino, Turin, Italy.
²⁰ Department of Research, Center Hospitalier du Rouvray, Rouen, France.
²¹ Normandie Univ, UNIROUEN, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, Rouen, France.
²² Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
²³ Division of Medical Genetics, Department of Internal Medicine, Baylor Scott and White Medical Center, Temple, TX, USA.
²⁴ Baylor Genetics, Houston, TX, USA.
²⁵ Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD CHU, Dijon, France.
²⁶ INSERM UMR1231, équipe GAD, Université de Bourgogne-Franche Comté, Dijon, France.
²⁷ Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.
²⁸ Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston, MA, USA.
²⁹ Division of Neonatology, Department of Pediatrics, University of Miami Miller School of Medicine and Holtz Children's Hospital, Jackson Health System, Miami, FL, USA.
³⁰ Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.
³¹ Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.
³² Institute for Advanced Study, Technical University of Munich, Garching, Germany.
³³ Department of Neurology, Zvolen Hospital, Zvolen, Slovakia.
³⁴ Department of Neurology, Faculty of Medicine, Comenius University, Bratislava, Slovakia.
³⁵ Department of Neurology, Charles University, First Faculty of Medicine and General University Hospital, Prague, Czech Republic.
³⁶ Institute of Neurogenomics, Helmholtz Zentrum Muenchen, Neuherberg, Germany.
³⁷ Neurogenetics, Technische Universitaet Muenchen, Munich, Germany.
³⁸ Institute of Human Genetics, Klinikum rechts der Isar der TUM, Munich, Germany.
³⁹ Munich Cluster for Systems Neurology (SyNergy), Munich, Germany.
⁴⁰ Jessenius Faculty of Medicine in Martin, Comenius University Bratislava, Martin, Slovakia.
⁴¹ Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.
⁴² Department of Neurology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
⁴³ Division of Genetics and Genomic Medicine, St. Louis Children's Hospital, St. Louis, MO, USA.
⁴⁴ Department of Neurology, Washington University School of Medicine, St. Louis, MO, USA.
⁴⁵ Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Canada.
⁴⁶ Genomics Health Services and Policy Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, Toronto, Canada.
⁴⁷ The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network and Sinai Health System, Toronto, Canada.
⁴⁸ Department of Molecular Genetics, University of Toronto, Toronto, Canada.
⁴⁹ Department of Medicine, University of Toronto, Toronto, Canada.
⁵⁰ Pathology and Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, Canada.
⁵¹ Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Canada.
⁵² Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, Canada.
⁵³ Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
⁵⁴ Department of Biochemistry and Genetics, University Hospital of Angers, Angers, France.
⁵⁵ Mitovasc Unit, UMR CNRS 6015-INSERM 1083, Angers, France.
⁵⁶ Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
⁵⁷ Department of Clinical Genetics and School for Oncology and Developmental Biology, Maastricht UMC, Maastricht, The Netherlands.
⁵⁸ Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.
⁵⁹ Dr. v. Hauner Children's Hospital, Department of Pediatric Neurology and Developmental Medicine, LMU-University of Munich, Munich, Germany.
⁶⁰ Department of Neuropediatrics, ATOS Klinik Heidelberg, Heidelberg, Germany.
⁶¹ Département de Génétique, AP-HP-Sorbonne Université, Hôpital Trousseau & Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
⁶² Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
⁶³ Dipartimento di Scienze Della Vita e Sanità Pubblica, Università Cattolica del Sacro Cuore, Rome, Italy.
⁶⁴ University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria.
⁶⁵ Center for Molecular and Chromosomal Genetics, AP-HP-Sorbonne University, Pitié-Salpêtrière Hospital, Paris, France.
⁶⁶ Department of Pediatric Neurology and Neurogenetic Referral Center, AP-HP-Sorbonne Université, Armand Trousseau Hospital, Paris, France.
⁶⁷ Department of Biochemistry and Genetics, Angers University Hospital and UMR CNRS, Angers, France.
⁶⁸ Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
⁶⁹ Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
⁷⁰ Department of Quantitative Health Sciences Research, Mayo Clinic, Rochester, MN, USA.
⁷¹ Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.
⁷² Department of Pediatrics, Guerin Children's at Cedars-Sinai Medical Center, Los Angeles, CA, USA.
⁷³ Institute of Medical Biometry, Informatics and Epidemiology, University of Bonn, Bonn, Germany.
⁷⁴ Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
⁷⁵ Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA.
⁷⁶ Department of Medical Genetics, Center for Medical Genetics, School of Basic Medical Sciences, Peking University, Beijing, China.
⁷⁷ Neuroscience Research Institute, Peking University, Beijing, China.
⁷⁸ Key Laboratory for Neuroscience, Ministry of Education of China & National Health Commission of China, Beijing, China.
⁷⁹ Autism Research Center, Peking University Health Science Center, Beijing, China.

PMID: 39301775
PMCID: PMC11922793 (available on 2026-03-20)
DOI: 10.1002/ana.27077

Abstract

Objective: De novo variants in cullin-3 ubiquitin ligase (CUL3) have been strongly associated with neurodevelopmental disorders (NDDs), but no large case series have been reported so far. Here, we aimed to collect sporadic cases carrying rare variants in CUL3, describe the genotype-phenotype correlation, and investigate the underlying pathogenic mechanism.

Methods: Genetic data and detailed clinical records were collected via multicenter collaboration. Dysmorphic facial features were analyzed using GestaltMatcher. Variant effects on CUL3 protein stability were assessed using patient-derived T-cells.

Results: We assembled a cohort of 37 individuals with heterozygous CUL3 variants presenting a syndromic NDD characterized by intellectual disability with or without autistic features. Of these, 35 have loss-of-function (LoF) and 2 have missense variants. CUL3 LoF variants in patients may affect protein stability leading to perturbations in protein homeostasis, as evidenced by decreased ubiquitin-protein conjugates in vitro. Notably, we show that 4E-BP1 (EIF4EBP1), a prominent substrate of CUL3, fails to be targeted for proteasomal degradation in patient-derived cells.

Interpretation: Our study further refines the clinical and mutational spectrum of CUL3-associated NDDs, expands the spectrum of cullin RING E3 ligase-associated neuropsychiatric disorders, and suggests haploinsufficiency via LoF variants is the predominant pathogenic mechanism. ANN NEUROL 2024.

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Conflict of interest statement

Potential Conflicts of Interest

Nothing to report.

Update of

Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder.
Blackburn PR, Ebstein F, Hsieh TC, Motta M, Radio FC, Herkert JC, Rinne T, Thiffault I, Rapp M, Alders M, Maas S, Gerard B, Smol T, Vincent-Delorme C, Cogné B, Isidor B, Vincent M, Bachmann-Gagescu R, Rauch A, Joset P, Ferrero GB, Ciolfi A, Husson T, Guerrot AM, Bacino C, Macmurdo C, Thompson SS, Rosenfeld JA, Faivre L, Mau-Them FT, Deb W, Vignard V, Agrawal PB, Madden JA, Goldenberg A, Lecoquierre F, Zech M, Prokisch H, Necpál J, Jech R, Winkelmann J, Koprušáková MT, Konstantopoulou V, Younce JR, Shinawi M, Mighton C, Fung C, Morel C, Ellis JL, DiTroia S, Barth M, Bonneau D, Krapels I, Stegmann S, van der Schoot V, Brunet T, Bußmann C, Mignot C, Courtin T, Ravelli C, Keren B, Ziegler A, Hasadsri L, Pichurin PN, Klee EW, Grand K, Sanchez-Lara PA, Krüger E, Bézieau S, Klinkhammer H, Krawitz PM, Eichler EE, Tartaglia M, Küry S, Wang T. Blackburn PR, et al. medRxiv [Preprint]. 2023 Jun 16:2023.06.13.23290941. doi: 10.1101/2023.06.13.23290941. medRxiv. 2023. Update in: Ann Neurol. 2024 Sep 20. doi: 10.1002/ana.27077. PMID: 37398376 Free PMC article. Updated. Preprint.

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Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder

Affiliations

Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder

Authors

Affiliations

Abstract

Conflict of interest statement

Update of

References

Grants and funding

LinkOut - more resources

Full Text Sources