作者: Jacques Neefjes , Rik van der Kant
DOI: 10.1016/J.TINS.2013.11.006
关键词: Late onset 、 Hereditary spastic paraplegia 、 Neuroscience 、 Lysosomal transport 、 Age of onset 、 Parkinson's disease 、 Nervous system 、 Disease 、 Biology 、 Endosomal transport
摘要: The past decade has seen an explosion of DNA sequencing activities and many mutations genetic variances underlying neurological neurodegenerative diseases have been determined. This wealth data is now placed in molecular pathways revealing the nodes that underlie disrupted processes. Many affect proteins controlling endosomal/lysosomal transport. Although age onset these range from juvenile [i.e., Niemann–Pick type C (NPC) Charcot–Marie–Tooth (CMT) disease] to late (Parkinson's Alzheimer's disease), deregulation endosomal transport a common theme. review summarizes how elucidating basis for various advanced our understanding endo-lysosomal system why all translate into similar disease phenotypes.