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Inborn Defects of Membrane Trafficking 

Inborn Defects of Membrane Trafficking
Chapter:
Inborn Defects of Membrane Trafficking
Author(s):

Elina Ikonen

DOI:
10.1093/med/9780199934522.003.0191
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date: 08 March 2021

This chapter provides a general introduction to the protein machineries of cellular membrane trafficking and lists 30 human diseases in which defects of these protein components have been discovered as the underlying cause. The disorders have been grouped into three categories: (1) those defective in sorting of cargo into transport carriers, vesicle budding, and scission, (2) those with defective movement of vesicles along cytoskeletal tracks, and (3) those defective in vesicle tethering, docking, and fusion at the target membrane. Eighteen of these diseases are discussed in some more detail, with the sites of the defects schematically illustrated. The number of membrane trafficking diseases is steadily increasing and evidently, the present account is not comprehensive. Here, the focus is on diseases studied most at the cell biological level. They provide examples of how the study of intracellular membrane trafficking has given a framework to understand the disease pathology and vice versa, how analysis of the gene defects deepens our understanding of the physiology of intracellular membrane transport processes. Finally, some of the lessons learned so far from studying human inborn errors of membrane trafficking are discussed.

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