- Miscellaneous
- WD40-Repeat Proteins in Ciliopathies and Congenital Disorders of Endocrine System
-
Yeonjoo Kim, Soo-Hyun Kim
-
Endocrinol Metab. 2020;35(3):494-506. Published online September 8, 2020
-
DOI: https://doi.org/10.3803/EnM.2020.302
-
-
13,630
View
-
185
Download
-
6
Citations
-
 Abstract
 PDF Supplementary Material PubReader  ePub  Crossref - TDM
- 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.
-
Citations
Citations to this article as recorded by  - Structural screens identify candidate human homologs of insect chemoreceptors and cryptic Drosophila gustatory receptor-like proteins
Richard Benton, Nathaniel J Himmel
eLife.2023;[Epub] CrossRef - Aromatic patterns: Tryptophan aromaticity as a catalyst for the emergence of life and rise of consciousness
Amal Alachkar
Physics of Life Reviews.2022; 42: 93. CrossRef - EML2-S constitutes a new class of proteins that recognizes and regulates the dynamics of tyrosinated microtubules
Takashi Hotta, Thomas S. McAlear, Yang Yue, Takumi Higaki, Sarah E. Haynes, Alexey I. Nesvizhskii, David Sept, Kristen J. Verhey, Susanne Bechstedt, Ryoma Ohi
Current Biology.2022; 32(18): 3898. CrossRef - Susceptibility of craniofacial ciliopathies to oral cancer-A proposed research
G Arun Kumar
Journal of Dental Health, Oral Disorders & Therapy.2022; 13(2): 41. CrossRef - A WDR47 homolog facilitates ciliogenesis by modulating intraflagellar transport
Chun-Xue Song, Xian-Ting Zeng, Wan-Xin Zeng, Rong Liu, Xia-Jing Tong, Qian Li
Journal of Cell Science.2022;[Epub] CrossRef - Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability
Natja Haag, Ene-Choo Tan, Matthias Begemann, Lars Buschmann, Florian Kraft, Petra Holschbach, Angeline H. M. Lai, Maggie Brett, Ganeshwaran H. Mochida, Stephanie DiTroia, Lynn Pais, Jennifer E. Neil, Muna Al-Saffar, Laila Bastaki, Christopher A. Walsh, In
European Journal of Human Genetics.2021; 29(11): 1663. CrossRef
|
KES
