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A Novel Pathogenic Variant Identified in HIKESHI-Related Hypomyelinating Leukodystrophy Disrupts Heat Shock Response in iPSCs.

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Title: A Novel Pathogenic Variant Identified in HIKESHI-Related Hypomyelinating Leukodystrophy Disrupts Heat Shock Response in iPSCs.
Authors: Saleh MA; The Department of Physiology and Cell Biology, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva 8410501, Israel.; The Regenerative Medicine and Stem Cell (RMSC) Research Center, Ben-Gurion University of the Negev, Beer Sheva 8410501, Israel., Boichuck M; The Regenerative Medicine and Stem Cell (RMSC) Research Center, Ben-Gurion University of the Negev, Beer Sheva 8410501, Israel.; The Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva 8410501, Israel., Ottolenghi A; The Regenerative Medicine and Stem Cell (RMSC) Research Center, Ben-Gurion University of the Negev, Beer Sheva 8410501, Israel.; The Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva 8410501, Israel., Rabinski T; The Department of Physiology and Cell Biology, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva 8410501, Israel.; The Regenerative Medicine and Stem Cell (RMSC) Research Center, Ben-Gurion University of the Negev, Beer Sheva 8410501, Israel., Goldenthal O; The Department of Physiology and Cell Biology, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva 8410501, Israel.; The Regenerative Medicine and Stem Cell (RMSC) Research Center, Ben-Gurion University of the Negev, Beer Sheva 8410501, Israel., Sanchez DS; Ilse Katz Institute for Nanoscale Science and Technology, Ben-Gurion University of the Negev, Beer Sheva 8410501, Israel., Fattal-Valevski A; Pediatric Neurology Institute, Dana-Dwek Children's Hospital, Tel-Aviv Sourasky Medical Center, Tel-Aviv 6423906, Israel.; Faculty of Medicine and health sciences, Tel Aviv University, Tel-Aviv 6997801, Israel., Heimer G; Faculty of Medicine and health sciences, Tel Aviv University, Tel-Aviv 6997801, Israel.; Pediatric Neurology Unit, Safra Children's Hospital, The Sheba Medical Center, Ramat Gan 5262000, Israel., Ben-Shachar S; Faculty of Medicine and health sciences, Tel Aviv University, Tel-Aviv 6997801, Israel.; Clalit Research Institute, Ramat-Gan 5262000, Israel., Libzon S; Pediatric Neurology Institute, Dana-Dwek Children's Hospital, Tel-Aviv Sourasky Medical Center, Tel-Aviv 6423906, Israel.; Faculty of Medicine and health sciences, Tel Aviv University, Tel-Aviv 6997801, Israel., Gershoni-Yahalom O; The Regenerative Medicine and Stem Cell (RMSC) Research Center, Ben-Gurion University of the Negev, Beer Sheva 8410501, Israel.; The Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva 8410501, Israel., Ben-Zvi A; Department of Life Sciences, National Institute for Biotechnology in the Negev, Ben-Gurion University of the Negev, Beer Sheva 8410501, Israel.; Department of Life Sciences, Ilse Katz Institute for Nanoscale Science and Technology, Ben-Gurion University of the Negev, Beer Sheva 8410501, Israel., Zarivach R; Department of Life Sciences, National Institute for Biotechnology in the Negev, Ben-Gurion University of the Negev, Beer Sheva 8410501, Israel.; Department of Life Sciences, Ilse Katz Institute for Nanoscale Science and Technology, Ben-Gurion University of the Negev, Beer Sheva 8410501, Israel., Zerem A; Pediatric Neurology Institute, Dana-Dwek Children's Hospital, Tel-Aviv Sourasky Medical Center, Tel-Aviv 6423906, Israel.; Faculty of Medicine and health sciences, Tel Aviv University, Tel-Aviv 6997801, Israel., Rosental B; The Regenerative Medicine and Stem Cell (RMSC) Research Center, Ben-Gurion University of the Negev, Beer Sheva 8410501, Israel.; The Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva 8410501, Israel., Vatine GD; The Department of Physiology and Cell Biology, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva 8410501, Israel.; The Regenerative Medicine and Stem Cell (RMSC) Research Center, Ben-Gurion University of the Negev, Beer Sheva 8410501, Israel.; The Zelman Center of Neuroscience, Ben-Gurion University of the Negev, Beer Sheva 8410501, Israel.
Source: International journal of molecular sciences [Int J Mol Sci] 2025 Jun 24; Vol. 26 (13). Date of Electronic Publication: 2025 Jun 24.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: A Novel Pathogenic Variant Identified in HIKESHI-Related Hypomyelinating Leukodystrophy Disrupts Heat Shock Response in iPSCs.
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  Data: <searchLink fieldCode="AU" term="%22Saleh+MA%22">Saleh MA</searchLink>; The Department of Physiology and Cell Biology, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva 8410501, Israel.; The Regenerative Medicine and Stem Cell (RMSC) Research Center, Ben-Gurion University of the Negev, Beer Sheva 8410501, Israel.<br /><searchLink fieldCode="AU" term="%22Boichuck+M%22">Boichuck M</searchLink>; The Regenerative Medicine and Stem Cell (RMSC) Research Center, Ben-Gurion University of the Negev, Beer Sheva 8410501, Israel.; The Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva 8410501, Israel.<br /><searchLink fieldCode="AU" term="%22Ottolenghi+A%22">Ottolenghi A</searchLink>; The Regenerative Medicine and Stem Cell (RMSC) Research Center, Ben-Gurion University of the Negev, Beer Sheva 8410501, Israel.; The Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva 8410501, Israel.<br /><searchLink fieldCode="AU" term="%22Rabinski+T%22">Rabinski T</searchLink>; The Department of Physiology and Cell Biology, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva 8410501, Israel.; The Regenerative Medicine and Stem Cell (RMSC) Research Center, Ben-Gurion University of the Negev, Beer Sheva 8410501, Israel.<br /><searchLink fieldCode="AU" term="%22Goldenthal+O%22">Goldenthal O</searchLink>; The Department of Physiology and Cell Biology, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva 8410501, Israel.; The Regenerative Medicine and Stem Cell (RMSC) Research Center, Ben-Gurion University of the Negev, Beer Sheva 8410501, Israel.<br /><searchLink fieldCode="AU" term="%22Sanchez+DS%22">Sanchez DS</searchLink>; Ilse Katz Institute for Nanoscale Science and Technology, Ben-Gurion University of the Negev, Beer Sheva 8410501, Israel.<br /><searchLink fieldCode="AU" term="%22Fattal-Valevski+A%22">Fattal-Valevski A</searchLink>; Pediatric Neurology Institute, Dana-Dwek Children's Hospital, Tel-Aviv Sourasky Medical Center, Tel-Aviv 6423906, Israel.; Faculty of Medicine and health sciences, Tel Aviv University, Tel-Aviv 6997801, Israel.<br /><searchLink fieldCode="AU" term="%22Heimer+G%22">Heimer G</searchLink>; Faculty of Medicine and health sciences, Tel Aviv University, Tel-Aviv 6997801, Israel.; Pediatric Neurology Unit, Safra Children's Hospital, The Sheba Medical Center, Ramat Gan 5262000, Israel.<br /><searchLink fieldCode="AU" term="%22Ben-Shachar+S%22">Ben-Shachar S</searchLink>; Faculty of Medicine and health sciences, Tel Aviv University, Tel-Aviv 6997801, Israel.; Clalit Research Institute, Ramat-Gan 5262000, Israel.<br /><searchLink fieldCode="AU" term="%22Libzon+S%22">Libzon S</searchLink>; Pediatric Neurology Institute, Dana-Dwek Children's Hospital, Tel-Aviv Sourasky Medical Center, Tel-Aviv 6423906, Israel.; Faculty of Medicine and health sciences, Tel Aviv University, Tel-Aviv 6997801, Israel.<br /><searchLink fieldCode="AU" term="%22Gershoni-Yahalom+O%22">Gershoni-Yahalom O</searchLink>; The Regenerative Medicine and Stem Cell (RMSC) Research Center, Ben-Gurion University of the Negev, Beer Sheva 8410501, Israel.; The Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva 8410501, Israel.<br /><searchLink fieldCode="AU" term="%22Ben-Zvi+A%22">Ben-Zvi A</searchLink>; Department of Life Sciences, National Institute for Biotechnology in the Negev, Ben-Gurion University of the Negev, Beer Sheva 8410501, Israel.; Department of Life Sciences, Ilse Katz Institute for Nanoscale Science and Technology, Ben-Gurion University of the Negev, Beer Sheva 8410501, Israel.<br /><searchLink fieldCode="AU" term="%22Zarivach+R%22">Zarivach R</searchLink>; Department of Life Sciences, National Institute for Biotechnology in the Negev, Ben-Gurion University of the Negev, Beer Sheva 8410501, Israel.; Department of Life Sciences, Ilse Katz Institute for Nanoscale Science and Technology, Ben-Gurion University of the Negev, Beer Sheva 8410501, Israel.<br /><searchLink fieldCode="AU" term="%22Zerem+A%22">Zerem A</searchLink>; Pediatric Neurology Institute, Dana-Dwek Children's Hospital, Tel-Aviv Sourasky Medical Center, Tel-Aviv 6423906, Israel.; 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