Kim, Y; Kim, S-H
(2020)
WD40-Repeat Proteins in Ciliopathies and Congenital Disorders of Endocrine System.
Endocrinol Metab (Seoul), 35 (3).
pp. 494-506.
ISSN 2093-5978
https://doi.org/10.3803/EnM.2020.302
SGUL Authors: Kim, Soo-Hyun
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Abstract
WD40-repeat (WDR)-containing proteins constitute an evolutionarily conserved large protein family with a broad range of biological functions. In human proteome, WDR makes up one of the most abundant protein-protein interaction domains. Members of the WDR protein family play important roles in nearly all major cellular signalling pathways. Mutations of WDR proteins have been associated with various human pathologies including neurological disorders, cancer, obesity, ciliopathies and endocrine disorders. This review provides an updated overview of the biological functions of WDR proteins and their mutations found in congenital disorders. We also highlight the significant role of WDR proteins in ciliopathies and endocrine disorders. The new insights may help develop therapeutic approaches targeting WDR motifs.
Item Type: | Article | ||||||||
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Additional Information: | Copyright © 2020 Korean Endocrine Society This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (https://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. | ||||||||
Keywords: | Ciliopathies, Congenital, hereditary, and neonatal diseases and abnormalities, Kallmann syndrome, Neuroendocrine, WDR proteins | ||||||||
SGUL Research Institute / Research Centre: | Academic Structure > Molecular and Clinical Sciences Research Institute (MCS) | ||||||||
Journal or Publication Title: | Endocrinol Metab (Seoul) | ||||||||
ISSN: | 2093-5978 | ||||||||
Language: | eng | ||||||||
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Publisher License: | Creative Commons: Attribution-Noncommercial 4.0 | ||||||||
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PubMed ID: | 32894826 | ||||||||
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URI: | https://openaccess.sgul.ac.uk/id/eprint/112360 | ||||||||
Publisher's version: | https://doi.org/10.3803/EnM.2020.302 |
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