SPNS1 variants cause multiorgan disease and implicate lysophospholipid transport as critical for mTOR-regulated lipid homeostasis
SPNS1 变异会导致多器官疾病,并表明溶血磷脂转运对于 mTOR 调节的脂质稳态至关重要。
期刊:Journal of Clinical Investigation
影响因子:
doi:10.1172/JCI193099
He, Menglan; Ding, Mei; Chocholouskova, Michaela; Chin, Cheen Fei; Engvall, Martin; Malmgren, Helena; Wagner, Matias; Lauffer, Marlen C; Heisinger, Jacob; Malicdan, May Christine V; Allamand, Valerie; Durbeej, Madeleine; Delgado Vega, Angelica; Sejersen, Thomas; Nordgren, Ann; Torta, Federico; Silver, David L