Hypomyelinating Leukodystrophy 14 (HLD14)-Related UFC1 p.Arg23Gln Decreases Cell Morphogenesis: A Phenotype Reversable with Hesperetin
These findings indicate that the HLD14-related mutation in UFC1 causes its lysosomal aggregation, impairing its morphological differentiation. Furthermore, the study highlights potential therapeutic insights into the pathological molecular and cellular mechanisms underlying HLD14 and suggests hesperetin as a promising candidate for treatment.
Authors
- Masayoshi Minegishi
- Junji Yamauchi (ORCID: https://orcid.org/0000-0002-3618-998X)
- Katsuya Ohbuchi (ORCID: https://orcid.org/0000-0001-6756-3260)
- Hiroaki Oizumi (ORCID: https://orcid.org/0000-0002-0898-2972)
- Yuki Miyamoto (ORCID: https://orcid.org/0000-0001-9298-5799)
- Masahiro Yamamoto (ORCID: https://orcid.org/0000-0001-6733-9488)
- Maho Okawa
- Yu Ichihara
Institutions
- Tokyo University of Pharmacy and Life Sciences (JP)
- Tsumura Research Institute (Japan) (JP)
- Tokyo Metropolitan Institute of Medical Science (JP)
- National Center For Child Health and Development (JP)
Publication Details
- Journal
- Medicines
- Published
- 2025-01-16
- DOI
- https://doi.org/10.3390/medicines12010002
- Primary Topic
- RNA regulation and disease
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Japan Foundation for Pediatric Research
- Ministry of Education, Culture, Sports, Science and Technology
- Ministry of Health, Labour and Welfare
- Lastentautien Tutkimussäätiö
- Mishima Kaiun Memorial Foundation
- Japan Society for the Promotion of Science
- Japan Science and Technology Agency
- Core Research for Evolutional Science and Technology
- Daiichi Sankyo Europe