Franco Brunella, Morleo Manuela
Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy.
Medical Genetics, Department of Translational Medical Sciences, University of Naples Federico II, Naples, Italy.
Mol Cell Oncol. 2021 Mar 31;8(3):1903291. doi: 10.1080/23723556.2021.1903291. eCollection 2021.
Autophagy is a cellular self-degradative pathway. Our study unveiled a novel mechanism mediated by OFD1, the protein mutated in Oral-Facial-Digital type I syndrome, based on selective degradation of autophagic proteins, which enables cells to calibrate their self-degradation. We demonstrated that unrestrained autophagy contributes to renal cysts observed in mutants.
自噬是一种细胞自我降解途径。我们的研究揭示了一种由OFD1介导的新机制，OFD1是在I型口面指综合征中发生突变的蛋白质，该机制基于自噬蛋白的选择性降解，使细胞能够校准其自我降解。我们证明，不受控制的自噬会导致在突变体中观察到的肾囊肿。
