Jornal de Síndromes Genéticas e Terapia Gênica
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The WD40 Repeat Protein Mutations: Genetics, Molecular Mechanisms and Therapeutic Implications

Caiguo Zhang

Eukaryotes contain numerous WD40 repeat proteins which perform diverse functions in signal transduction, gene transcriptional regulation, vesicular trafficking, cytoskeleton assembly, genome stability maintenance and cell cycle control. Importantly, mutations of WD40 repeat proteinsare genetically associated with diseases such as Lissencephaly, Cockayne syndrome, cancer, Parkinson’s disease, Chediak-Higashi syndrome, amyotrophic lateral sclerosis, cardiovascular diseases and colorectal neoplasms. Over the past years, great progresses have been made in understanding the molecular mechanisms and therapeutic strategies of these diseases. This reviewbriefly provides current perspectives onWD40 repeat protein functions, andmainly summarizes the most recent understandings onmolecular basis of WD40 repeat proteins involved in diseases and their therapeutic implications.