WD40-Repeat Proteins in Ciliopathies and Congenital Disorders of Endocrine System

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...

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Published inEndocrinology and metabolism (Seoul) Vol. 35; no. 3; pp. 494 - 506
Main Authors Kim, Yeonjoo, Kim, Soo-Hyun
Format Journal Article
LanguageEnglish
Published Korean Endocrine Society 01.09.2020
대한내분비학회
Subjects
ciliopathies
congenital, hereditary, and neonatal diseases and abnormalities
kallmann syndrome
neuroendocrine
Review
wdr proteins
내과학
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Summary: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.
Bibliography:ObjectType-Article-2
SourceType-Scholarly Journals-1
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ObjectType-Review-1
ISSN:2093-596X
2093-5978
DOI:10.3803/EnM.2020.302