Z-disc-associated, alternatively spliced, PDZ motif-containing protein (ZASP) mutations in the actin-binding domain cause disruption of skeletal muscle actin filaments in myofibrillar myopathy
肌动蛋白结合域中的 Z 盘相关、可变剪接、含 PDZ 基序的蛋白 (ZASP) 突变导致肌原纤维肌病中的骨骼肌肌动蛋白丝断裂
期刊:Journal of Biological Chemistry
影响因子:4
doi:10.1074/jbc.M114.550418
Xiaoyan Lin, Janelle Ruiz, Ilda Bajraktari, Rachel Ohman, Soojay Banerjee, Katherine Gribble, Joshua D Kaufman, Paul T Wingfield, Robert C Griggs, Kenneth H Fischbeck, Ami Mankodi