Unraveling the pathogenic mechanism of a novel filamin a frameshift variant in periventricular nodular heterotopia
Our findings indicate that the frameshift variant of <i>FLNA</i> (NM_001456.3: c.1466delG, p. G489Afs*9) impairs the arrangement and organization of F-actin, potentially influencing cell migration and causing PVNH.
Authors
- Sisi Feng (ORCID: https://orcid.org/0000-0003-2357-2995)
- Yangtai Guan (ORCID: https://orcid.org/0000-0003-0813-4073)
- Yong Hao (ORCID: https://orcid.org/0000-0003-3652-0449)
- Yishu Wang (ORCID: https://orcid.org/0000-0003-2340-0333)
- Chunran Xue
- Jing Peng
Institutions
- Renji Hospital (CN)
- Center for Excellence in Molecular Cell Science (CN)
- University of Chinese Academy of Sciences (CN)
Publication Details
- Journal
- Frontiers in Pharmacology
- Published
- 2024-09-27
- DOI
- https://doi.org/10.3389/fphar.2024.1429177
- Citations
- 1
- Primary Topic
- Fetal and Pediatric Neurological Disorders
- Type
- article
- Field-Weighted Citation Impact
- 1.11
Funders
- National Natural Science Foundation of China
- Science and Technology Commission of Shanghai Municipality
- University of Shanghai for Science and Technology