Research Institute of the McGill University Health Centre at Glen Site, Montreal, QC H4A 3J1, Canada.
Research Institute of the McGill University Health Centre at Glen Site, Montreal, QC H4A 3J1, Canada; Department of Human Genetics, McGill University, Montreal, QC H3A 0G1, Canada; Department of Anatomy and Cell Biology, McGill University, Montreal, QC H3A 2B2, Canada; Department of Pediatrics, McGill University, Montreal, QC H4A 3J1, Canada.
Neuron. 2024 Oct 23;112(20):3378-3380. doi: 10.1016/j.neuron.2024.10.003.
In this issue of Neuron, Yang et al. report MFDM-like phenotypes in mice with deletion of Eftud2 in their Purkinje cells (PCs), namely cerebellar atrophy alongside motor and social deficits, similar to phenotypes observed in MFDM patients. The absence of Eftud2 caused mis-splicing of Atf4, reduced Scd1 and Gch1, and promoted ferroptosis-regulated PC death.
在本期《神经元》杂志中，Yang 等人报道了在其浦肯野细胞（PC）中缺失 Eftud2 的小鼠出现 MFDM 样表型，即小脑萎缩伴运动和社交缺陷，与 MFDM 患者观察到的表型相似。Eftud2 的缺失导致 Atf4 的剪接错误，Scd1 和 Gch1 减少，并促进铁死亡调控的 PC 死亡。
