Heterozygous de novo variants in <i>HSPD1</i> cause hypomyelinating leukodystrophy through impaired HSP60 oligomerisation
We provide evidence that impaired oligomerisation of the chaperonin complex might underlie this HSPD1-related phenotype, possibly through exerting a dominant negative effect.
Authors
- Eyal Paz (ORCID: https://orcid.org/0009-0009-3674-956X)
- Stéphanie Libzon (ORCID: https://orcid.org/0000-0002-4706-1949)
- Ohad S. Birk (ORCID: https://orcid.org/0000-0003-1430-1296)
- Celeste Weiss
- Vadim Dolgin (ORCID: https://orcid.org/0000-0001-8265-6588)
- Amit Kessel (ORCID: https://orcid.org/0000-0003-0227-0226)
- Liat Ben‐Sira (ORCID: https://orcid.org/0000-0002-0827-0190)
- Abdussalam Azem (ORCID: https://orcid.org/0000-0002-2288-2986)
- Marina Eskin‐Schwartz (ORCID: https://orcid.org/0000-0003-0507-1505)
- William Benko
- Xavier Blanc (ORCID: https://orcid.org/0000-0002-2554-3090)
- Aviva Fattal‐Valevski (ORCID: https://orcid.org/0000-0003-2867-1685)
- Stylianos E. Antonarakis (ORCID: https://orcid.org/0000-0001-8907-5823)
- Peter Bross (ORCID: https://orcid.org/0000-0001-9526-8525)
- Emmanuelle Ranza (ORCID: https://orcid.org/0000-0002-2131-5744)
- Ayelet Zerem
- Kristin Herman
- Shaikah Seraidy
- Maism Molhem
Institutions
- Ben-Gurion University of the Negev (IL)
- Tel Aviv University (IL)
- Tel Aviv Sourasky Medical Center (IL)
- Soroka Medical Center (IL)
- Aarhus University Hospital (DK)
- University of California Davis Medical Center (US)
Publication Details
- Journal
- Journal of Medical Genetics
- Published
- 2024-11-05
- DOI
- https://doi.org/10.1136/jmg-2024-109862
- Primary Topic
- Heat shock proteins research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Israel Science Foundation