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 (26)

MKS1 interacts with components of the ubiquitin-proteasome pathway to regulate ciliogenesis and multiple signalling pathways (2012)
Journal Article

MKS1, a ciliary protein containing a B9 domain of unknown function, plays an important role in ciliogenesis. Mutation of the MKS1 gene causes the neonatal lethal multi-organ developmental condition Meckel-Gruber syndrome, characterized by severe cili... Read More about MKS1 interacts with components of the ubiquitin-proteasome pathway to regulate ciliogenesis and multiple signalling pathways.

High throughput high content reverse genetics visual screens of ciliogenesis and cilia maintenance (2012)
Journal Article

Cilia are small, hair-like structures occurring on the apical surface of most of vertebrate cells. Defects in cilia cause a range of developmental phenotypes grouped into conditions called ciliopathies. Our aim is to dissect the structure and functio... Read More about High throughput high content reverse genetics visual screens of ciliogenesis and cilia maintenance.

Molecular genetics and functional characterization of ciliopathies (2011)
Thesis

Primary cilia are microtubule-based organelles projecting from most epithelial cells in vertebrates, with numerous essential roles in chemo- and mechanosensation. A suite of inherited human conditions are caused by defects in the structure or functio... Read More about Molecular genetics and functional characterization of ciliopathies.

Defects in non-canonical Wnt signalling and actin cytoskeleton remodelling as pathogenic mechanisms in Meckel–Gruber syndrome (2010)
Journal Article

Primary cilia are mechano- and chemosensory organelles that have a fundamental role in regulating embryogenesis. Inherited disorders that involve aberrant ciliary structure or function are now known as “ciliopathies”, and they invariably present with... Read More about Defects in non-canonical Wnt signalling and actin cytoskeleton remodelling as pathogenic mechanisms in Meckel–Gruber syndrome.

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.