INPP5KN2A

Annamaria Manzolillo1, Lennart Gresing1, Christian A Hübner1,2

  • 1Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, Jena, Germany.

概括

伊诺西聚酸5-酸酶K (INPP5K) 对大脑发育和神经元分化至关重要. 它的缺乏会损害蛋白质糖化,这是肌肉衰竭中受到影响的关键过程.