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CUL1 variants cause severe neurodevelopmental disorders: Insights from human genetics and a zebrafish model of microcephaly.

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Title: CUL1 variants cause severe neurodevelopmental disorders: Insights from human genetics and a zebrafish model of microcephaly.
Authors: Xu H; Department of Neurology, Fujian Medical University Union Hospital, Clinical Research Center for Precision Diagnosis and Treatment of Neurological Diseases of Fujian Province, Fuzhou, P.R. China; Fujian Key Laboratory of Molecular Neurology and Institute of Neuroscience, Fujian Medical University, Fuzhou, P.R. China., Liu Z; Key Laboratory for Birth Defects Research and Prevention of the National Health Commission, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan, P.R. China; Department of Neurology, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou 510120, Guangdong, China., Hamdan FF; Centre de Recherche Azrieli du CHU Sainte-Justine, Montreal, QC, Canada; Department of Pediatrics, University of Montreal, Montreal, QC, Canada., Wu S; Department of Clinical Laboratory, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, P.R. China., He M; Key Laboratory for Birth Defects Research and Prevention of the National Health Commission, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan, P.R. China., Wang D; Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan, P.R. China., Pan H; Key Laboratory for Birth Defects Research and Prevention of the National Health Commission, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan, P.R. China., Hu J; Key Laboratory for Birth Defects Research and Prevention of the National Health Commission, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan, P.R. China., Chen Y; Key Laboratory for Birth Defects Research and Prevention of the National Health Commission, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan, P.R. China., Michaud JL; Centre de Recherche Azrieli du CHU Sainte-Justine, Montreal, QC, Canada; Departments of Pediatrics and Neurosciences, University of Montreal, Montreal, QC, Canada., Minassian BA; Department of Pediatrics, Hospital for Sick Children and University of Toronto, Toronto, ON, Canada; Department of Neuroscience, University of Texas Southwestern Medical Center, Dallas, TX, USA., Duan J; Department of Neurology, Shenzhen Children's Hospital, Shenzhen, Guangdong, P.R. China., Liao J; Department of Neurology, Shenzhen Children's Hospital, Shenzhen, Guangdong, P.R. China., Su J; Key Laboratory for Birth Defects Research and Prevention of the National Health Commission, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan, P.R. China; Department of Infertility and Endocrinology, Hunan Province Maternal and Children Health Care Hospital, Changsha, Hunan, P.R. China., Hu S; Obstetrics Department III, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan, P.R. China., Peng Y; Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan, P.R. China., Ye Q; Department of Neurology, Fujian Medical University Union Hospital, Clinical Research Center for Precision Diagnosis and Treatment of Neurological Diseases of Fujian Province, Fuzhou, P.R. China; Fujian Key Laboratory of Molecular Neurology and Institute of Neuroscience, Fujian Medical University, Fuzhou, P.R. China. Electronic address: unionqyye8@fjmu.edu.cn., Chen L; Department of Neurology, Shenzhen Children's Hospital, Shenzhen, Guangdong, P.R. China. Electronic address: chenli2000@126.com.
Source: HGG advances [HGG Adv] 2026 Jan 15; Vol. 7 (1), pp. 100542. Date of Electronic Publication: 2025 Nov 04.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv Subsets: MEDLINE
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  Data: CUL1 variants cause severe neurodevelopmental disorders: Insights from human genetics and a zebrafish model of microcephaly.
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  Data: <searchLink fieldCode="AU" term="%22Xu+H%22">Xu H</searchLink>; Department of Neurology, Fujian Medical University Union Hospital, Clinical Research Center for Precision Diagnosis and Treatment of Neurological Diseases of Fujian Province, Fuzhou, P.R. China; Fujian Key Laboratory of Molecular Neurology and Institute of Neuroscience, Fujian Medical University, Fuzhou, P.R. China.<br /><searchLink fieldCode="AU" term="%22Liu+Z%22">Liu Z</searchLink>; Key Laboratory for Birth Defects Research and Prevention of the National Health Commission, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan, P.R. China; Department of Neurology, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou 510120, Guangdong, China.<br /><searchLink fieldCode="AU" term="%22Hamdan+FF%22">Hamdan FF</searchLink>; Centre de Recherche Azrieli du CHU Sainte-Justine, Montreal, QC, Canada; Department of Pediatrics, University of Montreal, Montreal, QC, Canada.<br /><searchLink fieldCode="AU" term="%22Wu+S%22">Wu S</searchLink>; Department of Clinical Laboratory, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, P.R. China.<br /><searchLink fieldCode="AU" term="%22He+M%22">He M</searchLink>; Key Laboratory for Birth Defects Research and Prevention of the National Health Commission, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan, P.R. China.<br /><searchLink fieldCode="AU" term="%22Wang+D%22">Wang D</searchLink>; Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan, P.R. China.<br /><searchLink fieldCode="AU" term="%22Pan+H%22">Pan H</searchLink>; Key Laboratory for Birth Defects Research and Prevention of the National Health Commission, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan, P.R. China.<br /><searchLink fieldCode="AU" term="%22Hu+J%22">Hu J</searchLink>; Key Laboratory for Birth Defects Research and Prevention of the National Health Commission, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan, P.R. China.<br /><searchLink fieldCode="AU" term="%22Chen+Y%22">Chen Y</searchLink>; Key Laboratory for Birth Defects Research and Prevention of the National Health Commission, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan, P.R. China.<br /><searchLink fieldCode="AU" term="%22Michaud+JL%22">Michaud JL</searchLink>; Centre de Recherche Azrieli du CHU Sainte-Justine, Montreal, QC, Canada; Departments of Pediatrics and Neurosciences, University of Montreal, Montreal, QC, Canada.<br /><searchLink fieldCode="AU" term="%22Minassian+BA%22">Minassian BA</searchLink>; Department of Pediatrics, Hospital for Sick Children and University of Toronto, Toronto, ON, Canada; Department of Neuroscience, University of Texas Southwestern Medical Center, Dallas, TX, USA.<br /><searchLink fieldCode="AU" term="%22Duan+J%22">Duan J</searchLink>; Department of Neurology, Shenzhen Children's Hospital, Shenzhen, Guangdong, P.R. China.<br /><searchLink fieldCode="AU" term="%22Liao+J%22">Liao J</searchLink>; Department of Neurology, Shenzhen Children's Hospital, Shenzhen, Guangdong, P.R. China.<br /><searchLink fieldCode="AU" term="%22Su+J%22">Su J</searchLink>; Key Laboratory for Birth Defects Research and Prevention of the National Health Commission, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan, P.R. China; Department of Infertility and Endocrinology, Hunan Province Maternal and Children Health Care Hospital, Changsha, Hunan, P.R. China.<br /><searchLink fieldCode="AU" term="%22Hu+S%22">Hu S</searchLink>; Obstetrics Department III, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan, P.R. China.<br /><searchLink fieldCode="AU" term="%22Peng+Y%22">Peng Y</searchLink>; Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan, P.R. China.<br /><searchLink fieldCode="AU" term="%22Ye+Q%22">Ye Q</searchLink>; Department of Neurology, Fujian Medical University Union Hospital, Clinical Research Center for Precision Diagnosis and Treatment of Neurological Diseases of Fujian Province, Fuzhou, P.R. China; Fujian Key Laboratory of Molecular Neurology and Institute of Neuroscience, Fujian Medical University, Fuzhou, P.R. China. Electronic address: unionqyye8@fjmu.edu.cn.<br /><searchLink fieldCode="AU" term="%22Chen+L%22">Chen L</searchLink>; Department of Neurology, Shenzhen Children's Hospital, Shenzhen, Guangdong, P.R. China. Electronic address: chenli2000@126.com.
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  Data: <searchLink fieldCode="JN" term="%22101772885%22">HGG advances</searchLink> [HGG Adv] 2026 Jan 15; Vol. 7 (1), pp. 100542. <i>Date of Electronic Publication: </i>2025 Nov 04.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier+Inc%22">Elsevier Inc </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101772885 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2666-2477 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2226662477%22">26662477 </searchLink><i>NLM ISO Abbreviation: </i>HGG Adv <i>Subsets: </i>MEDLINE
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        Value: 10.1016/j.xhgg.2025.100542
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        Text: English
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              Text: 2026 Jan 15
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