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Endosomal Recycling Defects and Neurodevelopmental Disorders

Saitoh, Shinji·2022·Cells
DOI 10.3390/cells11010148PMC PMC8750115
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Abstract

The quality and quantity of membrane proteins are precisely and dynamically maintained through an endosomal recycling process. This endosomal recycling is executed by two protein complexes: retromer and recently identified retriever. Defects in the function of retromer or retriever cause dysregulation of many membrane proteins and result in several human disorders, including neurodegenerative disorders such as Alzheimer’s disease and Parkinson’s disease. Recently, neurodevelopmental disorders caused by pathogenic variants in genes associated with retriever were identified. This review focuses on the two recycling complexes and discuss their biological and developmental roles and the consequences of defects in endosomal recycling, especially in the nervous system. We also discuss future perspectives of a possible relationship of the dysfunction of retromer and retriever with neurodevelopmental disorders.

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Metadata

Authors
Saitoh, S.
Affiliations
Department of Pediatrics and Neonatology, Graduate School of Medical Sciences, Nagoya City University, Kawasumi 1, Mizuho-cho, Mizuho-ku, Nagoya 467-8601, Japan
ORCID
Saitoh, Shinji
Venue
Cells
Publisher
MDPI AG
Published
2022-01-03
Volume
11
Issue
1
Pages
148
ISSN
2073-4409
DOI
10.3390/cells11010148
PMC
PMC8750115
Cited by
20
References
6
Language
en
Licence
creativecommons.org/licenses/by/4.0/ (vor)

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