Parameswaran Janani, McEachin Zachary T
Department of Cell Biology, Emory University, Atlanta, GA 30322, USA.
Department of Cell Biology, Emory University, Atlanta, GA 30322, USA; Department of Human Genetics, Emory University, Atlanta, GA 30322, USA; Laboratory for Translational Cell Biology, Emory University, Atlanta, GA 30322, USA.
Neuron. 2025 May 7;113(9):1301-1303. doi: 10.1016/j.neuron.2025.04.007.
A hexanucleotide GC repeat expansion in C9orf72 causes accumulation of dipeptide repeat (DPR) proteins and is the leading genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). In a recent issue of Neuron, Zhang et al. report that elevating PI3P levels mitigates endolysosomal deficits and DPR-associated neurotoxicity.
C9orf72基因中的六核苷酸GC重复扩增会导致二肽重复（DPR）蛋白的积累，是肌萎缩侧索硬化症（ALS）和额颞叶痴呆（FTD）的主要遗传病因。在最近一期的《神经元》杂志上，张等人报道，提高PI3P水平可减轻内溶酶体缺陷和DPR相关的神经毒性。
