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Neurogenetics
Original research
Heterozygous de novo variants in HSPD1 cause hypomyelinating leukodystrophy through impaired HSP60 oligomerisation

Authors

  • Marina Eskin-Schwartz Genetics Institute, Soroka Hospital, Beer Sheva, Israel Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel PubMed articlesGoogle scholar articles
  • Shaikah Seraidy Faculty of Life Sciences School of Neurobiology, Biochemistry and Biophysics, Tel Aviv University, Tel Aviv, Israel PubMed articlesGoogle scholar articles
  • Eyal Paz Faculty of Life Sciences School of Neurobiology, Biochemistry and Biophysics, Tel Aviv University, Tel Aviv, Israel Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel PubMed articlesGoogle scholar articles
  • Maism Molhem Faculty of Life Sciences School of Neurobiology, Biochemistry and Biophysics, Tel Aviv University, Tel Aviv, Israel PubMed articlesGoogle scholar articles
  • Emmanuelle Ranza Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland PubMed articlesGoogle scholar articles
  • Stylianos E Antonarakis Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland PubMed articlesGoogle scholar articles
  • Xavier Blanc Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland PubMed articlesGoogle scholar articles
  • Kristin Herman UC Davis Medical Center, MIND Institute Section of Medical Genomics, Sacramento, California, USA PubMed articlesGoogle scholar articles
  • William S Benko UC Davis Medical Center, Department of Neurology, Sacramento, California, USA PubMed articlesGoogle scholar articles
  • Stephanie Libzon Pediatric Neurology Institute, Dana-Dwek Children's Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel PubMed articlesGoogle scholar articles
  • Liat Ben Sira Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel Pediatric Radiology, Department of Radiology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel PubMed articlesGoogle scholar articles
  • Aviva Fattal-Valevski Pediatric Neurology Institute, Dana-Dwek Children's Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel PubMed articlesGoogle scholar articles
  • Vadim Dolgin The Morris Kahn Laboratory of Human Genetics, National Center for Rare Diseases at the Faculty of Health Sciences and National Institute for Biotechnology in the Negev, Ben-Gurion University of the Negev, Beer-Sheva, Israel PubMed articlesGoogle scholar articles
  • Ohad S Birk Genetics Institute, Soroka Hospital, Beer Sheva, Israel Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel The Morris Kahn Laboratory of Human Genetics, National Center for Rare Diseases at the Faculty of Health Sciences and National Institute for Biotechnology in the Negev, Ben-Gurion University of the Negev, Beer-Sheva, Israel PubMed articlesGoogle scholar articles
  • Amit Kessel Faculty of Life Sciences School of Neurobiology, Biochemistry and Biophysics, Tel Aviv University, Tel Aviv, Israel PubMed articlesGoogle scholar articles
  • Peter Bross Research Unit for Molecular Medicine, Aarhus University and Aarhus University Hospital, Aarhus, Denmark PubMed articlesGoogle scholar articles
  • Celeste Weiss Faculty of Life Sciences School of Neurobiology, Biochemistry and Biophysics, Tel Aviv University, Tel Aviv, Israel PubMed articlesGoogle scholar articles
  • Abdussalam Azem Faculty of Life Sciences School of Neurobiology, Biochemistry and Biophysics, Tel Aviv University, Tel Aviv, Israel Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel PubMed articlesGoogle scholar articles
  • Ayelet Zerem Pediatric Neurology Institute, Dana-Dwek Children's Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Marina Eskin-Schwartz; eskinma{at}post.bgu.ac.il; Dr Ayelet Zerem; ayeletze{at}tlvmc.gov.il
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Citation

Eskin-Schwartz M, Seraidy S, Paz E, et al
Heterozygous de novo variants in HSPD1 cause hypomyelinating leukodystrophy through impaired HSP60 oligomerisation
Journal of Medical Genetics 2025;62:15-24.

Publication history

  • Received January 8, 2024
  • Accepted October 16, 2024
  • First published November 5, 2024.
Online issue publication 
December 31, 2024

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© Author(s) (or their employer(s)) 2025. No commercial re-use. See rights and permissions. Published by BMJ Group.