Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.
第一作者:
Saskia B,Wortmann
第一单位:
Department of Pediatrics, Radboud University Nijmegen Medical Centre (RUNMC), Nijmegen, The Netherlands. s.wortmann@cukz.umcn.nl
作者:
主题词
氨基酸序列(Amino Acid Sequence);羧酸酯水解酶类(Carboxylic Ester Hydrolases);心磷脂质类(Cardiolipins);细胞系, 转化(Cell Line, Transformed);细胞系, 肿瘤(Cell Line, Tumor);胆固醇(Cholesterol);聋(Deafness);张力失调(Dystonia);成纤维细胞(Fibroblasts);HEK293细胞(HEK293 Cells);人类(Humans);线粒体(Mitochondria);分子序列数据(Molecular Sequence Data);突变(Mutation);氧化磷酸化(Oxidative Phosphorylation);磷脂酰甘油类(Phosphatidylglycerols);磷脂类(Phospholipids);序列比对(Sequence Alignment)
DOI
10.1038/ng.2325
PMID
22683713
发布时间
2022-03-16
- 浏览35

Nature genetics
797-802页
相似文献
- 中文期刊
- 外文期刊
- 学位论文
- 会议论文