胆固醇代谢与雷特综合征发病机制。
Cholesterol metabolism and Rett syndrome pathogenesis.
出版信息
Nat Genet. 2013 Sep;45(9):965-7. doi: 10.1038/ng.2738.
DOI:10.1038/ng.2738
PMID:23985682
Abstract
Rett syndrome is caused by mutations in the gene encoding the transcriptional regulator MECP2. A new study demonstrates that cholesterol homeostasis is disrupted in Mecp2 mutant mice and suggests new therapeutic options for this disease.
摘要
雷特综合征是由编码转录调节剂 MECP2 的基因突变引起的。一项新的研究表明，胆固醇稳态在 Mecp2 突变小鼠中被破坏，并为这种疾病提供了新的治疗选择。
Zotero 插件