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Nat Genet. 2013 Sep;45(9):965-7. doi: 10.1038/ng.2738.

Cholesterol metabolism and Rett syndrome pathogenesis.

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.

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PMID:
23985682
[PubMed - indexed for MEDLINE]
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