Expression of Autophagy-Related Proteins in Microlissencephaly Associated with a Novel Variant in the <i>WDR81</i> Gene.
High LC3 and low p62 protein expression levels supported studies concluding that <i>WDR81</i> inhibits autophagy through PI3KC3 inhibition, while low Beclin 1 protein expression level supported studies concluding that autophagy is suppressed in case of loss of function variants in the <i>WDR81</i> gene. We suggest that due to its role in endolysosomal trafficking, <i>WDR81</i>-related diseases should be included in vesicular trafficking disorders.
Authors
- Pelin Teke Kısa (ORCID: https://orcid.org/0000-0001-6481-3172)
- Akif Ayaz
- Nihal Aydın (ORCID: https://orcid.org/0000-0002-6205-4966)
- Tayfun Çinleti (ORCID: https://orcid.org/0000-0001-9041-1820)
- Ufkay Karabay (ORCID: https://orcid.org/0000-0001-8608-1865)
- Mehtap Yüksel Eğrilmez (ORCID: https://orcid.org/0000-0002-3570-1865)
- Hatice Yelda Yalçın
Institutions
- Ministry of Health (TR)
Publication Details
- Journal
- PubMed
- Published
- 2025-02-01
- DOI
- https://doi.org/10.1159/000540339
- Citations
- 1
- Primary Topic
- Autophagy in Disease and Therapy
- Type
- article
- Field-Weighted Citation Impact
- 1.35