Akademik Veri Yönetim Sistemi
Molekürler Biyoloji Derneği 9. Uluslararası kongresi, poster bildiri sunumu Molecular Biology Association of Turkey 9th International Congress, İzmir, Türkiye, 12 - 14 Eylül 2024, ss.1, (Özet Bildiri)
Autophagy is a fundamental eukaryotic cellular process that degrades and recycles large cellular components,
maintaining cellular homeostasis under normal or stress conditions. It is regulated by a set of proteins including ATG
(autophagy-related gene) proteins, which orchestrate the formation and maturation of autophagosomes. Dysfunction of
autophagy may result in human pathologies including cancer and neurodegenerative diseases. Additionally, autophagy
plays an important role in trophoblast migration/invasion in human placental development and has been shown to be misregulated
during preeclampsia. Mendelian diseases associated with ATG genes are rare. Mutations in core autophagy
genes ATG5 and ATG7 have been previously reported to cause rare genetic disorders with autosomal recessive
inheritance pattern. We previously identified a mutation in the placenta specific expressed ATG9B gene that causes
neurodevelopmental clinical findings. Using CRISPR gene editing technology, we have generated knockout and knockin
mouse models to study the pathophysiology of this disease in vivo and gain insights on physiologic functions of ATG9B.
Here we present our work on these mouse models, and their genetic and phenotypic characterization.