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

Endocrinology and Metabolism 2020년 35권 3호 p.494 ~ 506
김연주, 김수현,
소속 상세정보
김연주 ( Kim Yeon-Joo ) - St. George’s, University of London Molecular and Clinical Sciences Research Institute
김수현 ( Kim Soo-Hyun ) - St. George’s, University of London Molecular and Clinical Sciences Research Institute

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.

키워드

WDR proteins; Ciliopathies; Congenital, hereditary, and neonatal diseases and abnormalities; Neuroendocrine; Kallmann syndrome

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SCI(E)
MEDLINE
KCI
KoreaMed
KAMS