Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity
✍ Scribed by Philip B. Daniel; Tim Morgan; Yasemin Alanay; Emilia Bijlsma; Tae-Joon Cho; Trevor Cole; Felicity Collins; Albert David; Koen Devriendt; Laurence Faivre; Shiro Ikegawa; Sebastien Jacquemont; Milos Jesic; Deborah Krakow; Daniela Liebrecht; Silvia Maitz; Sandrine Marlin; Gilles Morin; Toshiya Nishikubo; Gen Nishimura; Trine Prescott; Gioacchino Scarano; Yousef Shafeghati; Flemming Skovby; Seiji Tsutsumi; Margo Whiteford; Martin Zenker; Stephen P. Robertson
- Publisher
- John Wiley and Sons
- Year
- 2012
- Tongue
- English
- Weight
- 399 KB
- Volume
- 33
- Category
- Article
- ISSN
- 1059-7794
No coin nor oath required. For personal study only.
✦ Synopsis
ABD mutations demonstrated that with only one exception disease-associated substitutions, surrounding hinge 1 demonstrated no tendency to form actin-filamin foci. The exception, a substitution in filamin repeat 6, lies within a region previously implicated in filamin-actin binding. These data are consistent with mutations in the ABD conferring enhanced actin-binding activity but suggest that substitutions affecting repeats near the flexible hinge region of FLNB precipitate the same phenotypes through a different mechanism.