Y65C missense mutation in the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1 affects its binding activity and deregulates pre-mRNA splicing
Golabi-Ito-Hall 综合征蛋白 PQBP1 的 WW 结构域中的 Y65C 错义突变影响其结合活性并解除对前 mRNA 剪接的调控
期刊:Journal of Biological Chemistry
影响因子:4
doi:10.1074/jbc.M109.084525
Victor E Tapia, Emilia Nicolaescu, Caleb B McDonald, Valeria Musi, Tsutomu Oka, Yujin Inayoshi, Adam C Satteson, Virginia Mazack, Jasper Humbert, Christian J Gaffney, Monique Beullens, Charles E Schwartz, Christiane Landgraf, Rudolf Volkmer, Annalisa Pastore, Amjad Farooq, Mathieu Bollen, Marius Sud
