| Figure 1: The main diseases associated with WD40 repeat protein mutations. WD40 repeat-containing protein mutations can cause numerous diseases such as
Lissencephaly (mutated by LIS1), Cockayne syndrome (mutated by CSA), cancer (mutated by β-TRCP1, β-TRCP2, FBXW7, CIAO1 and PALB2), Parkinson’s
disease (mutated by LRRK2), Chediak-Higashi syndrome (mutated by CHS1), amyotrophic lateral sclerosis (mutated by APAF1), cardiovascular diseases (mutated
by APAF1), colorectal neoplasms (mutated by APAF1), depressive disorder (mutated by APAF1) and tuberous sclerosis (mutated by FBXW5). |
