Endocytic membrane trafficking and neurodegenerative disease

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• 作者：Andrea M. A. Schreij ; Edward A. Fon…
• 关键词：Alzheimer disease ; ALS ; Clathrin ; Endocytosis ; Endosome ; HSP ; Lysosomal storage disease ; Multivesicular body ; MVB ; Neurodegeneration ; PD ; Trans ; Golgi network ; TGN
• 刊名：Cellular and Molecular Life Sciences (CMLS)
• 出版年：2016
• 出版时间：April 2016
• 年：2016
• 卷：73
• 期：8
• 页码：1529-1545
• 全文大小：766 KB
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• 作者单位：Andrea M. A. Schreij (1)
  Edward A. Fon (1)
  Peter S. McPherson (1)
  
  1. Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, 3801 University Street, Montreal, QC, H3A 2B4, Canada
  
• 刊物类别：Biomedical and Life Sciences
• 刊物主题：Life Sciences
  Cell Biology
  Biomedicine
  Life Sciences
  Biochemistry
  
• 出版者：Birkh盲user Basel
• ISSN：1420-9071

文摘

Neurodegenerative diseases are amongst the most devastating of human disorders. New technologies have led to a rapid increase in the identification of disease-related genes with an enhanced appreciation of the key roles played by genetics in the etiology of these disorders. Importantly, pinpointing the normal function of disease gene proteins leads to new understanding of the cellular machineries and pathways that are altered in the disease process. One such emerging pathway is membrane trafficking in the endosomal system. This key cellular process controls the localization and levels of a myriad of proteins and is thus critical for normal cell function. In this review we will focus on three neurodegenerative diseases; Parkinson disease, amyotrophic lateral sclerosis, and hereditary spastic paraplegias, for which a large number of newly discovered disease genes encode proteins that function in endosomal membrane trafficking. We will describe how alterations in these proteins affect endosomal function and speculate on the contributions of these disruptions to disease pathophysiology.