Article
A meckelin-filamin A interaction mediates ciliogenesis.
Human molecular genetics - 15 Mar 2012
Adams Matthew, Simms Roslyn J, Abdelhamed Zakia, Dawe Helen R, Szymanska Katarzyna, Logan Clare V, Wheway Gabrielle, Pitt Eva, Gull Keith, Knowles Margaret A, Blair Edward, Cross Sally H, Sayer John A, Johnson Colin A
Abstract excerpt
MKS3, encoding the transmembrane receptor meckelin, is mutated in Meckel-Gruber syndrome (MKS), an autosomal-recessive ciliopathy. Meckelin localizes to the primary cilium, basal body and elsewhere within the cell. Here, we found that the cytoplasmic domain of meckelin directly interacts with the actin-binding protein filamin A, potentially at the apical cell surface associated with the basal body. Mutations in...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.