Pyroxd1 is essential for murine viability with the homozygous N155S recurrent variant linked to myopathy, muscle hypotrophy and osteopenia.
Pyroxd1 对小鼠的生存至关重要,纯合 N155S 复发性变异与肌病、肌肉萎缩和骨质减少有关。
期刊:Acta Neuropathologica Communications
影响因子:5.7
doi:10.1186/s40478-026-02259-1
Evesson Frances J, Dziaduch Gregory, Yasa Joe, Best Heather A, Kiriaev Leonit, Pang Ignatius, Jones Vanessa, Kettle Emma, Zhang Katharine, Piper Ann-Katrin, Wark Jesse R, Scott Isaac, Joshi Himanshu, Sutton R Bryan, Tam Patrick P L, Houweling Peter J, Graham Mark E, Yuen Michaela, Lemcket Frances A, Cooper Sandra T