Disease-associated substitutions in the filamin B actin binding domain confer enhanced actin binding affinity in the absence of major structural disturbance: Insights from the crystal structures of filamin B actin binding domains.

Abstract excerpt

Missense mutations in filamin B (FLNB) are associated with the autosomal dominant atelosteogenesis (AO) and the Larsen group of skeletal malformation disorders. These mutations cluster in particular FLNB protein domains and act in a presumptive gain-of-function mechanism. In contrast the loss-of-function disorder, spondylocarpotarsal synostosis syndrome, is characterised by the complete absence of FLNB. One...

Topics

• Actins
• Amino Acid Sequence
• Amino Acid Substitution
• Biological Assay
• Calmodulin
• Contractile Proteins
• Crystallography, X-Ray
• Disease
• Filamins
• Fluorometry