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Endocytic Adaptor Proteins in Health and Disease: Lessons from Model Organisms and Human Mutations

Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), 13125 Berlin, Germany
Author to whom correspondence should be addressed.
These authors contributed equally to this work.
Cells 2019, 8(11), 1345;
Received: 7 October 2019 / Revised: 24 October 2019 / Accepted: 25 October 2019 / Published: 29 October 2019
(This article belongs to the Special Issue Membrane Traffic in Health and Disease)
Cells need to exchange material and information with their environment. This is largely achieved via cell-surface receptors which mediate processes ranging from nutrient uptake to signaling responses. Consequently, their surface levels have to be dynamically controlled. Endocytosis constitutes a powerful mechanism to regulate the surface proteome and to recycle vesicular transmembrane proteins that strand at the plasma membrane after exocytosis. For efficient internalization, the cargo proteins need to be linked to the endocytic machinery via adaptor proteins such as the heterotetrameric endocytic adaptor complex AP-2 and a variety of mostly monomeric endocytic adaptors. In line with the importance of endocytosis for nutrient uptake, cell signaling and neurotransmission, animal models and human mutations have revealed that defects in these adaptors are associated with several diseases ranging from metabolic disorders to encephalopathies. This review will discuss the physiological functions of the so far known adaptor proteins and will provide a comprehensive overview of their links to human diseases. View Full-Text
Keywords: endocytosis; internalization; uptake; clathrin; neurotransmission; mouse; knockout endocytosis; internalization; uptake; clathrin; neurotransmission; mouse; knockout
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MDPI and ACS Style

Azarnia Tehran, D.; López-Hernández, T.; Maritzen, T. Endocytic Adaptor Proteins in Health and Disease: Lessons from Model Organisms and Human Mutations. Cells 2019, 8, 1345.

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