Diminished GALNS activity in induced pluripotent stem cells of mucopolysaccharidosis IVA caused by compound p.S162Y and p.C165F mutation
We established a novel clinically relevant MPS IVA disease model that will be useful not only for investigating the pathogenic mechanisms of MPS IVA variants but also for drug screening and preclinical evaluation of novel therapies.
Authors
- Guanghui Bai (ORCID: https://orcid.org/0000-0002-5398-0757)
- Zhonglei Jiang
- Lin Yu (ORCID: https://orcid.org/0000-0002-9972-3799)
- Wenhao Chen (ORCID: https://orcid.org/0000-0001-8988-7362)
- Dong Chen (ORCID: https://orcid.org/0000-0001-7627-9560)
- Hui Chen (ORCID: https://orcid.org/0000-0001-6883-3752)
- Xiaomin Jiang (ORCID: https://orcid.org/0000-0003-0965-7917)
- Shao-Liang Chen (ORCID: https://orcid.org/0009-0000-2252-6140)
Institutions
- Children's Hospital of Zhejiang University (CN)
Publication Details
- Journal
- QJM
- Published
- 2024-08-26
- DOI
- https://doi.org/10.1093/qjmed/hcae164
- Citations
- 1
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.33
Funders
- Fundamental Research Funds for the Central Universities