Effects of a homozygous missense mutation in the <i>GNE</i> gene p.V543M on cell phenotype and its mechanisms.
The p.V543M mutation in the <i>GNE</i> gene alters cellular phenotype by reducing GNE enzymatic activity and the transcription of sialic acid biosynthesis enzymes, ultimately impairing sialic acid production.
Authors
- Yuan Wu (ORCID: https://orcid.org/0000-0002-9358-9146)
- Xiaoping Wan (ORCID: https://orcid.org/0000-0001-6079-631X)
- Huilong Li (ORCID: https://orcid.org/0009-0007-0192-0692)
- Pingyun Wu (ORCID: https://orcid.org/0009-0001-6400-6108)
- Ruolan Wu
- Qi Yang (ORCID: https://orcid.org/0000-0002-4930-9661)
Institutions
- Central South University (CN)
- Third Xiangya Hospital (CN)
Publication Details
- Journal
- PubMed
- Published
- 2025-01-28
- DOI
- https://doi.org/10.11817/j.issn.1672-7347.2025.240287
- Primary Topic
- Glycosylation and Glycoproteins Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00