Atl1-KO Mouse

Atlastin-1 (ATL1), a regulator of endoplasmic reticulum (ER) morphology, is crucial for tubular ER formation and protein synthesis [3]. It is involved in the mTOR signaling pathway, which is important in regulating cell growth, proliferation, and survival [1].

ATL1 has been studied in relation to several diseases. In pre-eclampsia (PE), ATL1 is upregulated in patients and placental tissues. Upregulation of ATL1 in HTR-8/SVneo cells inhibits the proliferation and invasion of trophoblast cells via the inhibition of the mTOR signaling pathway [1]. In intracranial aneurysms, the circular RNA circ-ATL1 is increased. Silencing circ-ATL1 suppresses vascular smooth muscle cell (VSMC) migration, proliferation, and phenotypic modulation, suggesting its role in aneurysm development [2]. Additionally, ATL1 is one of the causative genes of hereditary spastic paraplegia (HSP). Mutations in ATL1 can lead to a range of symptoms, and genotype-phenotype correlations have been explored, with de novo variants causing complex and severe symptoms in HSP-ATL1 patients [3,4].

In conclusion, ATL1 is essential for ER formation and protein synthesis. Studies on ATL1 in disease models such as pre-eclampsia, intracranial aneurysms, and HSP have provided insights into its role in these conditions. Understanding ATL1 may offer potential targets for treating related diseases.