Article
Skeletal Dysplasia Mutations Effect on Human Filamins' Structure and Mechanosensing.
Scientific reports - 26 Jun 2017
Seppälä Jonne, Bernardi Rafael C, Haataja Tatu J K, Hellman Maarit, Pentikäinen Olli T, Schulten Klaus, Permi Perttu, Ylänne Jari, Pentikäinen Ulla
Abstract excerpt
Cells' ability to sense mechanical cues in their environment is crucial for fundamental cellular processes, leading defects in mechanosensing to be linked to many diseases. The actin cross-linking protein Filamin has an important role in the conversion of mechanical forces into biochemical signals. Here, we reveal how mutations in Filamin genes known to cause Larsen syndrome and Frontometaphyseal dysplasia can...
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