Department of Cell Biology, University of Virginia, 1340 Jefferson Park Avenue, Pinn Hall Room 3226, Charlottesville, VA 22908, USA.
Dev Cell. 2021 May 17;56(10):1361-1362. doi: 10.1016/j.devcel.2021.04.024.
Niemann-Pick is a lysosomal storage disease caused by loss of the lysosomal cholesterol exporter NPC1 and leads to axon degeneration. Roney et al. report that immature autophagosomes accumulate in axons because cholesterol-laden lysosomes in the soma are not transported to the axon for autophagosome fusion and maturation because they aberrantly sequester non-functioning kinesin-1.
尼曼-匹克病是一种溶酶体贮积症，由溶酶体胆固醇外排蛋白 NPC1 的缺失引起，导致轴突变性。Roney 等人报告说，不成熟的自噬体在轴突中积累，因为体部充满胆固醇的溶酶体不能运输到轴突进行自噬体融合和成熟，因为它们异常地隔离了没有功能的驱动蛋白-1。
