| http://purl.uniprot.org/citations/23044536 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/23044536 | http://www.w3.org/2000/01/rdf-schema#comment | "Mutations in the LMNA gene, which encodes lamin A and C (lamin A/C), cause a diverse spectrum of tissue-selective diseases termed laminopathies. The most prevalent form affects striated muscles as dilated cardiomyopathy with variable skeletal muscle involvement, which includes autosomal Emery-Dreifuss muscular dystrophy. Mechanisms underlying the disease pathogenesis are beginning to be understood and they point toward defects in cell signaling. We therefore assessed putative signaling defects in a mouse model carrying a point mutation in Lmna (Lmna (H222P/H222P) ) that faithfully recapitulates human Emery-Dreifuss muscular dystrophy. We found that AKT-mechanistic target of rapamycin (MTOR) signaling was hyperactivated in hearts of Lmna (H222P/H222P) mice and that reducing MTOR activity by pharmacological intervention ameliorated cardiomyopathy. Given the central role of MTOR in regulating autophagy, we assessed fasting-induced autophagic responses and found that they were impaired in hearts of these mice. Moreover, the improved heart function associated with pharmacological blockade of MTOR was correlated with enhanced autophagy. These findings demonstrated that signaling defects that impair autophagy underlie pathogenesis of dilated cardiomyopathy arising from LMNA mutation."xsd:string |
| http://purl.uniprot.org/citations/23044536 | http://purl.org/dc/terms/identifier | "doi:10.4161/auto.22403"xsd:string |
| http://purl.uniprot.org/citations/23044536 | http://purl.uniprot.org/core/author | "Worman H.J."xsd:string |
| http://purl.uniprot.org/citations/23044536 | http://purl.uniprot.org/core/author | "Choi J.C."xsd:string |
| http://purl.uniprot.org/citations/23044536 | http://purl.uniprot.org/core/date | "2013"xsd:gYear |
| http://purl.uniprot.org/citations/23044536 | http://purl.uniprot.org/core/name | "Autophagy"xsd:string |
| http://purl.uniprot.org/citations/23044536 | http://purl.uniprot.org/core/pages | "110-111"xsd:string |
| http://purl.uniprot.org/citations/23044536 | http://purl.uniprot.org/core/title | "Reactivation of autophagy ameliorates LMNA cardiomyopathy."xsd:string |
| http://purl.uniprot.org/citations/23044536 | http://purl.uniprot.org/core/volume | "9"xsd:string |
| http://purl.uniprot.org/citations/23044536 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/23044536 |
| http://purl.uniprot.org/citations/23044536 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/23044536 |
| http://purl.uniprot.org/uniprot/#_Q8BNX5-mappedCitation-23044536 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/23044536 |
| http://purl.uniprot.org/uniprot/#_P48678-mappedCitation-23044536 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/23044536 |
| http://purl.uniprot.org/uniprot/#_Q9CTL2-mappedCitation-23044536 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/23044536 |
| http://purl.uniprot.org/uniprot/Q8BNX5 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/23044536 |
| http://purl.uniprot.org/uniprot/P48678 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/23044536 |
| http://purl.uniprot.org/uniprot/Q9CTL2 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/23044536 |