Liver Steatosis in Induced Hepatocytes From Carriers of Spinal Muscular Atrophy
Our data reveal hepatocyte-intrinsic lipid metabolic defects in SMA carriers, partially reversible with risdiplam. These findings suggest subclinical hepatic involvement in carriers and support further investigation into the systemic impact of SMN deficiency.
Authors
- Richard M. Giadone (ORCID: https://orcid.org/0000-0003-4523-3062)
- Gunaseelan Narayanan
- Michelle Yating Eio
- Lee L. Rubin (ORCID: https://orcid.org/0000-0002-8658-841X)
- Zi Jian Khong
- Adrian Kee Keong Teo (ORCID: https://orcid.org/0000-0001-5901-7075)
- Loo Chien Wang
- CL Yeo
- S. K. Ng
- Wei Yi Ong
- Hiromi W. L. Koh
- Lingyu Sun
- Damien Meng Kiat Leow
- Aloysius Kai Soon Teo
- Radoslaw M. Sobota
Institutions
- Agency for Science, Technology and Research (SG)
- Boston Children's Hospital (US)
- Harvard University (US)
- National University of Singapore (SG)
- Nanyang Technological University (SG)
- Duke-NUS Medical School (SG)
- National Neuroscience Institute (SG)
- Bioprocessing Technology Institute (SG)
- Institute of Molecular and Cell Biology (SG)
Publication Details
- Journal
- Muscle & Nerve
- Published
- 2026-01-22
- DOI
- https://doi.org/10.1002/mus.70111
- Primary Topic
- Neurogenetic and Muscular Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Duke-NUS Medical School
- University of Aberdeen
- Agency for Science, Technology and Research