Analysis of the pathogenicity and pathological characteristics of NOTCH3 gene-sparing cysteine mutations in vitro and in vivo models
To our knowledge, this is the first study to analyze the pathogenicity of <i>NOTCH3 R75Q</i> cysteine-sparing mutations in both <i>in vitro</i> and <i>in vivo</i> models. We demonstrate that NOTCH3<sup>ECD</sup> induced by <i>NOTCH3 R75Q</i> mutation has toxic effects on cells and reveal the deposition characteristics of NOTCH3<sup>ECD</sup> in the brain. This provides a feasible model and lays the foundation for further studies on the pathogenesis and therapeutic strategies of <i>NOTCH3</i> cysteine-sparing mutations.
Authors
- Zhenping Gong
- Ruihua Sun
- Haohan Zhang (ORCID: https://orcid.org/0000-0002-4827-4217)
- Yaru Lu (ORCID: https://orcid.org/0000-0003-3836-8516)
- Wan Wang (ORCID: https://orcid.org/0000-0002-5662-9989)
- Jiewen Zhang (ORCID: https://orcid.org/0000-0001-6857-0059)
- Fengyu Wang
- Ying Zhao (ORCID: https://orcid.org/0000-0002-3287-7400)
- Yadan Wang (ORCID: https://orcid.org/0009-0008-7515-5003)
Institutions
- Zhengzhou University (CN)
- Henan Provincial People's Hospital (CN)
- Zhengzhou People's Hospital (CN)
- Henan Medical University (CN)
Publication Details
- Journal
- Frontiers in Molecular Neuroscience
- Published
- 2024-12-20
- DOI
- https://doi.org/10.3389/fnmol.2024.1391040
- Citations
- 3
- Primary Topic
- Cerebrovascular and genetic disorders
- Type
- article
- Field-Weighted Citation Impact
- 1.11
Funders
- National Natural Science Foundation of China