WD40-Repeat Proteins in Ciliopathies and Congenital Disorders of Endocrine System
- PMID: 32894826
- PMCID: PMC7520596
- DOI: 10.3803/EnM.2020.302
WD40-Repeat Proteins in Ciliopathies and Congenital Disorders of Endocrine System
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.
Keywords: Ciliopathies; Congenital, hereditary, and neonatal diseases and abnormalities; Kallmann syndrome; Neuroendocrine; WDR proteins.
Conflict of interest statement
No potential conflict of interest relevant to this article was reported.
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References
-
- Stirnimann CU, Petsalaki E, Russell RB, Muller CW. WD40 proteins propel cellular networks. Trends Biochem Sci. 2010;35:565–74. - PubMed
-
- Wall MA, Coleman DE, Lee E, Iniguez-Lluhi JA, Posner BA, Gilman AG, et al. The structure of the G protein heterotrimer Gi alpha 1 beta 1 gamma 2. Cell. 1995;83:1047–58. - PubMed
-
- Jain BP, Pandey S. WD40 repeat proteins: signalling scaffold with diverse functions. Protein J. 2018;37:391–406. - PubMed
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