Developing a disease-specific accessible transcriptional signature as a biomarker for ataxia with oculomotor apraxia type 2
Our study identified a transcriptional biomarker that was able to differentiate AOA2 from controls and from other related neurological disorders, consequently expanding the spectrum of known pathogenic mutations. This proof-of-concept study illustrates that transcriptional biomarkers may be used to validate variants of uncertain significance in known genetic diseases.
Authors
- Kathie J. Ngo (ORCID: https://orcid.org/0000-0002-2092-410X)
- Hane Lee (ORCID: https://orcid.org/0000-0002-4736-0412)
- Brent L. Fogel (ORCID: https://orcid.org/0000-0001-9831-1576)
- Darice Y. Wong
- Alden Huang (ORCID: https://orcid.org/0000-0001-9635-0969)
- Stanley F. Nelson
Institutions
- University of California, Los Angeles (US)
Publication Details
- Journal
- Molecular Medicine
- Published
- 2025-05-24
- DOI
- https://doi.org/10.1186/s10020-025-01257-8
- Primary Topic
- Genetic Neurodegenerative Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00