Mutations in the lethal ciliopathy Meckel–Gruber syndrome alter the subcellular distribution of actin-binding proteins and disrupt the actin cytoskeleton

Adams, Matthew; Dawe, Helen; Wheway, Gabrielle; Szymanska, Katarzyna; Logan, Clare; Noegel, Angelika; Gull, Keith; Johnson, Colin

doi:10.1016/j.mod.2009.06.696

All Outputs (2)

Nesprin-2 interacts with meckelin and mediates ciliogenesis via remodelling of the actin cytoskeleton (2009)
Journal Article

Meckel-Gruber syndrome (MKS) is a severe autosomal recessively inherited disorder caused by mutations in genes that encode components of the primary cilium and basal body. Here we show that two MKS proteins, MKS1 and meckelin, that are required for c... Read More about Nesprin-2 interacts with meckelin and mediates ciliogenesis via remodelling of the actin cytoskeleton.

Mutations in the lethal ciliopathy Meckel–Gruber syndrome alter the subcellular distribution of actin-binding proteins and disrupt the actin cytoskeleton (2009)
Journal Article

MKS3, encoding a novel trans-membrane receptor, meckelin with similarity to frizzled proteins, is mutated in Meckel–Gruber syndrome (MKS), an autosomal recessive lethal ciliopathy.

Meckelin is a ciliary protein, but it also localises to the actin... Read More about Mutations in the lethal ciliopathy Meckel–Gruber syndrome alter the subcellular distribution of actin-binding proteins and disrupt the actin cytoskeleton.