,

Charles H Adelmann1,2, Avanthika Venkatachalam1,2, Lingjuan Huang1,2

  • 1Cutaneous Biology Research Center, Department of Dermatology, Massachusetts General Hospital, Boston, MA 02114.

概括

MFSD12蛋白对于 lysosomal 囊进口和器官生成至关重要. 它的缺失导致胚胎死亡,但母体的囊胺治疗挽救了发育,突出了 lysosomal thiol 进口