Mechanistic insights into NFIX frameshift mutations in Malan syndrome: proteasomal degradation-mediated haploinsufficiency
The <i>NFIX</i> c.164delC p.Ala55Glyfs*2 frameshift mutation did not significantly affect mRNA expression levels, but induced protein degradation via the ubiquitin-proteasome pathway, resulting in haploinsufficiency and ultimately causing Malan syndrome.
Authors
- Yan Zhou (ORCID: https://orcid.org/0000-0003-0153-7363)
- Liang Zou (ORCID: https://orcid.org/0000-0001-8573-7666)
- Yaoyao Li (ORCID: https://orcid.org/0000-0002-4946-0257)
Institutions
- Jingchu University of Technology (CN)
- Hefei Infectious Disease Hospital (CN)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2025-11-06
- DOI
- https://doi.org/10.3389/fgene.2025.1648420
- Primary Topic
- Cellular transport and secretion
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Jingchu University of Technology