Loss-of-function mutations in ISCA2 disrupt 4Fe-4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletion
ISCA2 的功能丧失突变会破坏 4Fe-4S 簇机制,并导致致命的白质营养不良,伴有高甘氨酸血症和线粒体 DNA 耗竭
期刊:Human Mutation
影响因子:3.3
doi:10.1002/humu.23396
Joseph T Alaimo, Arnaud Besse, Charlotte L Alston, Ki Pang, Vivek Appadurai, Monisha Samanta, Patroula Smpokou, Robert McFarland, Robert W Taylor, Penelope E Bonnen