Functional evaluation of NAA10 variants in patients with Ogden syndrome
In this study, c.346C>T and c.439A>T variants were found to alter the functional stability, structure, and energy of NAA10. Functional analyses of NAA10 variants in two rare OS patients have once again demonstrated that novel variants are essential studies for phenotype-genotype correlation association steps.
Authors
- Mustafa Doğan (ORCID: https://orcid.org/0000-0003-0464-6565)
- Aydeniz Aydın Gümüş (ORCID: https://orcid.org/0000-0002-5879-6385)
- Alper Gezdirici (ORCID: https://orcid.org/0000-0002-2432-9279)
- Ekrem Akbulut (ORCID: https://orcid.org/0000-0002-7526-9835)
- Duygu Kinay Ermis (ORCID: https://orcid.org/0000-0002-6586-2838)
Institutions
- Ministry of Health (TR)
- Istanbul Metropolitan Municipality (TR)
- Malatya Turgut Özal Üniversitesi (TR)
- Turgut Özal University (TR)
- University of Health Sciences Antigua (AG)
Publication Details
- Journal
- Psychiatric Genetics
- Published
- 2025-12-09
- DOI
- https://doi.org/10.1097/ypg.0000000000000409
- Primary Topic
- Peptidase Inhibition and Analysis
- Type
- article
- Field-Weighted Citation Impact
- 0.00