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Distinct pathophysiological mechanisms of CEP152 variants in microcephaly and brain abnormalities.

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Title: Distinct pathophysiological mechanisms of CEP152 variants in microcephaly and brain abnormalities.
Authors: Hamada N; Department of Molecular Neurobiology, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, 480-0392, Japan., AlAbdi L; Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, 11211, Saudi Arabia., Uehara T; Central Hospital, Aichi Developmental Disability Center, Kasugai, 480-0392, Japan.; Center for Medical Genetics, Keio University Graduate School of Medicine, Tokyo, 160-8582, Japan., Sasikarn L; Section of Electron Microscopy, Supportive Center for Brain Research, National Institute for Physiological Sciences, National Institutes of Natural Sciences, Okazaki, 444-8787, Japan.; Department of Anatomy, Division of Histology and Cell Biology, School of Medicine, Jichi Medical University, Shimotsuke, 329-0498, Japan., Nishijo T; Department of Molecular Neurobiology, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, 480-0392, Japan., Suliman-Lavie R; Department of Genetics, The Alexander Silberman Institute of Life Sciences The Hebrew University of Jerusalem, Jerusalem, 91904, Israel., Hashem MO; Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, 11211, Saudi Arabia., Alfadhel M; Medical Genomics Research Department, King Abdullah International Medical Research Center, King Abdullah Specialized Children's Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.; King Saud Bin Abdulaziz University for Health Sciences, King Abdullah Specialized Children's Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.; Genetics and Precision Medicine Department, King Abdullah Specialized Children's Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia., Alhefdhi S; Medical Genetics Division, Department of Pediatrics, King Khalid University Hospital, King Saud University, Riyadh, 12372, Saudi Arabia., Tabarki B; Division of Neurology, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia., Alghamdi M; Medical Genetics Division, Pediatrics Department, College of Medicine, King Saud University, Riyadh, Saudi Arabia., Iwamoto I; Department of Molecular Neurobiology, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, 480-0392, Japan., Takenouchi T; Department of Pediatrics, Keio University Graduate School of Medicine, Tokyo, 160-8582, Japan., Kosaki K; Center for Medical Genetics, Keio University Graduate School of Medicine, Tokyo, 160-8582, Japan., Shifman S; Department of Genetics, The Alexander Silberman Institute of Life Sciences The Hebrew University of Jerusalem, Jerusalem, 91904, Israel., Mizuno S; Central Hospital, Aichi Developmental Disability Center, Kasugai, 480-0392, Japan., Ohno N; Department of Anatomy, Division of Histology and Cell Biology, School of Medicine, Jichi Medical University, Shimotsuke, 329-0498, Japan.; Division of Ultrastructural Research, National Institutes of Natural Sciences, Okazaki, 444-8787, Japan., Alkuraya FS; Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, 11211, Saudi Arabia.; Lifera Omics, Riyadh, Saudi Arabia., Nagata KI; Department of Molecular Neurobiology, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, 480-0392, Japan. knagata@inst-hsc.jp.; Department of Neurochemistry, Nagoya University Graduate School of Medicine, Nagoya, 466-8550, Japan. knagata@inst-hsc.jp.
Source: EMBO molecular medicine [EMBO Mol Med] 2026 Jun; Vol. 18 (6), pp. 2180-2212. Date of Electronic Publication: 2026 May 05.
Publication Type: Journal Article
Journal Info: Publisher: EMBO Press Country of Publication: Germany NLM ID: 101487380 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1757-4684 (Electronic) Linking ISSN: 17574676 NLM ISO Abbreviation: EMBO Mol Med Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Distinct pathophysiological mechanisms of CEP152 variants in microcephaly and brain abnormalities.
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  Data: <searchLink fieldCode="AU" term="%22Hamada+N%22">Hamada N</searchLink>; Department of Molecular Neurobiology, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, 480-0392, Japan.<br /><searchLink fieldCode="AU" term="%22AlAbdi+L%22">AlAbdi L</searchLink>; Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, 11211, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Uehara+T%22">Uehara T</searchLink>; Central Hospital, Aichi Developmental Disability Center, Kasugai, 480-0392, Japan.; Center for Medical Genetics, Keio University Graduate School of Medicine, Tokyo, 160-8582, Japan.<br /><searchLink fieldCode="AU" term="%22Sasikarn+L%22">Sasikarn L</searchLink>; Section of Electron Microscopy, Supportive Center for Brain Research, National Institute for Physiological Sciences, National Institutes of Natural Sciences, Okazaki, 444-8787, Japan.; Department of Anatomy, Division of Histology and Cell Biology, School of Medicine, Jichi Medical University, Shimotsuke, 329-0498, Japan.<br /><searchLink fieldCode="AU" term="%22Nishijo+T%22">Nishijo T</searchLink>; Department of Molecular Neurobiology, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, 480-0392, Japan.<br /><searchLink fieldCode="AU" term="%22Suliman-Lavie+R%22">Suliman-Lavie R</searchLink>; Department of Genetics, The Alexander Silberman Institute of Life Sciences The Hebrew University of Jerusalem, Jerusalem, 91904, Israel.<br /><searchLink fieldCode="AU" term="%22Hashem+MO%22">Hashem MO</searchLink>; Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, 11211, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Alfadhel+M%22">Alfadhel M</searchLink>; Medical Genomics Research Department, King Abdullah International Medical Research Center, King Abdullah Specialized Children's Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.; King Saud Bin Abdulaziz University for Health Sciences, King Abdullah Specialized Children's Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.; Genetics and Precision Medicine Department, King Abdullah Specialized Children's Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Alhefdhi+S%22">Alhefdhi S</searchLink>; Medical Genetics Division, Department of Pediatrics, King Khalid University Hospital, King Saud University, Riyadh, 12372, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Tabarki+B%22">Tabarki B</searchLink>; Division of Neurology, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Alghamdi+M%22">Alghamdi M</searchLink>; Medical Genetics Division, Pediatrics Department, College of Medicine, King Saud University, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Iwamoto+I%22">Iwamoto I</searchLink>; Department of Molecular Neurobiology, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, 480-0392, Japan.<br /><searchLink fieldCode="AU" term="%22Takenouchi+T%22">Takenouchi T</searchLink>; Department of Pediatrics, Keio University Graduate School of Medicine, Tokyo, 160-8582, Japan.<br /><searchLink fieldCode="AU" term="%22Kosaki+K%22">Kosaki K</searchLink>; Center for Medical Genetics, Keio University Graduate School of Medicine, Tokyo, 160-8582, Japan.<br /><searchLink fieldCode="AU" term="%22Shifman+S%22">Shifman S</searchLink>; Department of Genetics, The Alexander Silberman Institute of Life Sciences The Hebrew University of Jerusalem, Jerusalem, 91904, Israel.<br /><searchLink fieldCode="AU" term="%22Mizuno+S%22">Mizuno S</searchLink>; Central Hospital, Aichi Developmental Disability Center, Kasugai, 480-0392, Japan.<br /><searchLink fieldCode="AU" term="%22Ohno+N%22">Ohno N</searchLink>; Department of Anatomy, Division of Histology and Cell Biology, School of Medicine, Jichi Medical University, Shimotsuke, 329-0498, Japan.; Division of Ultrastructural Research, National Institutes of Natural Sciences, Okazaki, 444-8787, Japan.<br /><searchLink fieldCode="AU" term="%22Alkuraya+FS%22">Alkuraya FS</searchLink>; Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, 11211, Saudi Arabia.; Lifera Omics, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Nagata+KI%22">Nagata KI</searchLink>; Department of Molecular Neurobiology, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, 480-0392, Japan. knagata@inst-hsc.jp.; Department of Neurochemistry, Nagoya University Graduate School of Medicine, Nagoya, 466-8550, Japan. knagata@inst-hsc.jp.
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  Data: <searchLink fieldCode="JN" term="%22101487380%22">EMBO molecular medicine</searchLink> [EMBO Mol Med] 2026 Jun; Vol. 18 (6), pp. 2180-2212. <i>Date of Electronic Publication: </i>2026 May 05.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22EMBO+Press%22">EMBO Press </searchLink><i>Country of Publication: </i>Germany <i>NLM ID: </i>101487380 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1757-4684 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217574676%22">17574676 </searchLink><i>NLM ISO Abbreviation: </i>EMBO Mol Med <i>Subsets: </i>MEDLINE
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