Article
Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA.
Journal of molecular medicine (Berlin, Germany) - 1 Jul 2015
van Kogelenberg Margriet, Clark Alice R, Jenkins Zandra, Morgan Tim, Anandan Ananda, Sawyer Gregory M, Edwards Matthew, Dudding Tracy, Homfray Tessa, Castle Bruce, Tolmie John, Stewart Fiona, Kivuva Emma, Pilz Daniela T, Gabbett Michael, Sutherland-Smith Andrew J, Robertson Stephen P
Abstract excerpt
UNLABELLED: Filamin A, the filamentous protein encoded by the X-linked gene FLNA, cross-links cytoskeletal actin into three-dimensional networks, facilitating its role as a signalling scaffold and a mechanosensor of extrinsic shear forces. Central to these functions is the ability of FLNA to form V-shaped homodimers through its C-terminal located filamin repeat 24. Additionally, many proteins that interact with...
Topics
- Amino Acid Sequence
- Cell Movement
- Female
- Fibroblasts
- Filamins
- Genetic Association Studies
- Humans
- Male
- Molecular Sequence Data
- Mutation, Missense
- Periventricular Nodular Heterotopia
- Phenotype