SUGAR-seq reveals the transcriptome and N-linked glycosylation landscape of mononuclear phagocytes at single-cell resolution in a mouse model of autosomal dominant osteopetrosis type 2
Our murine model confirms that the human CLCN7 (R286W) is a pathogenic mutation for ADO2. Additionally, our single-cell analyses reveal the heterogeneity of monocytes in ADO2, and the abnormal glycosylation modifications across various subtypes may represent important events in the pathogenesis of osteopetrosis.
Authors
- Cuiping Pan (ORCID: https://orcid.org/0000-0002-8152-2489)
- Lingyu Huang
- Chune Mo (ORCID: https://orcid.org/0000-0002-0449-770X)
- Xianliang Hou (ORCID: https://orcid.org/0000-0003-1271-6826)
- Gengshuo Chen
- Minglin Ou (ORCID: https://orcid.org/0000-0001-7583-5190)
- Lei Zhang (ORCID: https://orcid.org/0000-0002-9301-0181)
- Sha Luo (ORCID: https://orcid.org/0000-0002-0507-0273)
- Yu Sha (ORCID: https://orcid.org/0000-0002-2621-7609)
Institutions
- Guilin Medical University (CN)
Publication Details
- Journal
- BMC Biology
- Published
- 2025-03-31
- DOI
- https://doi.org/10.1186/s12915-025-02193-z
- Primary Topic
- Cell Adhesion Molecules Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China