| http://purl.uniprot.org/citations/34230964 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/34230964 | http://www.w3.org/2000/01/rdf-schema#comment | "Severe respiratory impairment is a prominent feature of Rett syndrome, an X-linked disorder caused by mutations in methyl CpG-binding protein 2 (MECP2). Despite MECP2's ubiquitous expression, respiratory anomalies are attributed to neuronal dysfunction. Here, we show that neutral lipids accumulate in mouse Mecp2-mutant lungs, whereas surfactant phospholipids decrease. Conditional deletion of Mecp2 from lipid-producing alveolar epithelial 2 (AE2) cells causes aberrant lung lipids and respiratory symptoms, whereas deletion of Mecp2 from hindbrain neurons results in distinct respiratory abnormalities. Single-cell RNA sequencing of AE2 cells suggests lipid production and storage increase at the expense of phospholipid synthesis. Lipid production enzymes are confirmed as direct targets of MECP2-directed nuclear receptor co-repressor 1/2 transcriptional repression. Remarkably, lipid-lowering fluvastatin improves respiratory anomalies in Mecp2-mutant mice. These data implicate autonomous pulmonary loss of MECP2 in respiratory symptoms for the first time and have immediate impacts on patient care."xsd:string |
| http://purl.uniprot.org/citations/34230964 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/ddab182"xsd:string |
| http://purl.uniprot.org/citations/34230964 | http://purl.uniprot.org/core/author | "Ackerley C."xsd:string |
| http://purl.uniprot.org/citations/34230964 | http://purl.uniprot.org/core/author | "Post M."xsd:string |
| http://purl.uniprot.org/citations/34230964 | http://purl.uniprot.org/core/author | "Justice M.J."xsd:string |
| http://purl.uniprot.org/citations/34230964 | http://purl.uniprot.org/core/author | "Vashi N."xsd:string |
| http://purl.uniprot.org/citations/34230964 | http://purl.uniprot.org/core/date | "2021"xsd:gYear |
| http://purl.uniprot.org/citations/34230964 | http://purl.uniprot.org/core/name | "Hum Mol Genet"xsd:string |
| http://purl.uniprot.org/citations/34230964 | http://purl.uniprot.org/core/pages | "2161-2176"xsd:string |
| http://purl.uniprot.org/citations/34230964 | http://purl.uniprot.org/core/title | "Aberrant lung lipids cause respiratory impairment in a Mecp2-deficient mouse model of Rett syndrome."xsd:string |
| http://purl.uniprot.org/citations/34230964 | http://purl.uniprot.org/core/volume | "30"xsd:string |
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