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Cholesterol metabolism and Rett syndrome pathogenesis
- Source :
- Nature Genetics. 45:965-967
- Publication Year :
- 2013
- Publisher :
- Springer Science and Business Media LLC, 2013.
-
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.
- Subjects :
- Genetics
congenital, hereditary, and neonatal diseases and abnormalities
medicine.medical_specialty
Mutant
Rett syndrome
Disease
Biology
medicine.disease
nervous system diseases
MECP2
Pathogenesis
Endocrinology
Internal medicine
mental disorders
Transcriptional regulation
medicine
Cholesterol metabolism
Gene
Subjects
Details
- ISSN :
- 15461718 and 10614036
- Volume :
- 45
- Database :
- OpenAIRE
- Journal :
- Nature Genetics
- Accession number :
- edsair.doi...........5559d006cf1f5de53844cc84a4d4c6fe