| http://purl.uniprot.org/citations/16511604 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/16511604 | http://www.w3.org/2000/01/rdf-schema#comment | "Lamin A and lamin C, both products of Lmna, are key components of the nuclear lamina. In the mouse, a deficiency in both lamin A and lamin C leads to slow growth, muscle weakness, and death by 6 weeks of age. Fibroblasts deficient in lamins A and C contain misshapen and structurally weakened nuclei, and emerin is mislocalized away from the nuclear envelope. The physiologic rationale for the existence of the 2 different Lmna products lamin A and lamin C is unclear, although several reports have suggested that lamin A may have particularly important functions, for example in the targeting of emerin and lamin C to the nuclear envelope. Here we report the development of lamin C-only mice (Lmna(LCO/LCO)), which produce lamin C but no lamin A or prelamin A (the precursor to lamin A). Lmna(LCO/LCO) mice were entirely healthy, and Lmna(LCO/LCO) cells displayed normal emerin targeting and exhibited only very minimal alterations in nuclear shape and nuclear deformability. Thus, at least in the mouse, prelamin A and lamin A appear to be dispensable. Nevertheless, an accumulation of farnesyl-prelamin A (as occurs with a deficiency in the prelamin A processing enzyme Zmpste24) caused dramatically misshapen nuclei and progeria-like disease phenotypes. The apparent dispensability of prelamin A suggested that lamin A-related progeroid syndromes might be treated with impunity by reducing prelamin A synthesis. Remarkably, the presence of a single Lmna(LCO) allele eliminated the nuclear shape abnormalities and progeria-like disease phenotypes in Zmpste24-/- mice. Moreover, treating Zmpste24-/-cells with a prelamin A-specific antisense oligonucleotide reduced prelamin A levels and significantly reduced the frequency of misshapen nuclei. These studies suggest a new therapeutic strategy for treating progeria and other lamin A diseases."xsd:string |
| http://purl.uniprot.org/citations/16511604 | http://purl.org/dc/terms/identifier | "doi:10.1172/jci27125"xsd:string |
| http://purl.uniprot.org/citations/16511604 | http://purl.uniprot.org/core/author | "Chang S.Y."xsd:string |
| http://purl.uniprot.org/citations/16511604 | http://purl.uniprot.org/core/author | "Yang S.H."xsd:string |
| http://purl.uniprot.org/citations/16511604 | http://purl.uniprot.org/core/author | "Fong L.G."xsd:string |
| http://purl.uniprot.org/citations/16511604 | http://purl.uniprot.org/core/author | "Lee R.T."xsd:string |
| http://purl.uniprot.org/citations/16511604 | http://purl.uniprot.org/core/author | "Young S.G."xsd:string |
| http://purl.uniprot.org/citations/16511604 | http://purl.uniprot.org/core/author | "Qiao X."xsd:string |
| http://purl.uniprot.org/citations/16511604 | http://purl.uniprot.org/core/author | "Bennett C.F."xsd:string |
| http://purl.uniprot.org/citations/16511604 | http://purl.uniprot.org/core/author | "Lammerding J."xsd:string |
| http://purl.uniprot.org/citations/16511604 | http://purl.uniprot.org/core/author | "Cote N."xsd:string |
| http://purl.uniprot.org/citations/16511604 | http://purl.uniprot.org/core/author | "Young S.R."xsd:string |
| http://purl.uniprot.org/citations/16511604 | http://purl.uniprot.org/core/author | "Stewart C.L."xsd:string |
| http://purl.uniprot.org/citations/16511604 | http://purl.uniprot.org/core/author | "Bergo M.O."xsd:string |
| http://purl.uniprot.org/citations/16511604 | http://purl.uniprot.org/core/author | "Gavino B."xsd:string |
| http://purl.uniprot.org/citations/16511604 | http://purl.uniprot.org/core/author | "Meta M."xsd:string |
| http://purl.uniprot.org/citations/16511604 | http://purl.uniprot.org/core/author | "Ng J.K."xsd:string |
| http://purl.uniprot.org/citations/16511604 | http://purl.uniprot.org/core/author | "Vickers T.A."xsd:string |
| http://purl.uniprot.org/citations/16511604 | http://purl.uniprot.org/core/date | "2006"xsd:gYear |
| http://purl.uniprot.org/citations/16511604 | http://purl.uniprot.org/core/name | "J Clin Invest"xsd:string |
| http://purl.uniprot.org/citations/16511604 | http://purl.uniprot.org/core/pages | "743-752"xsd:string |
| http://purl.uniprot.org/citations/16511604 | http://purl.uniprot.org/core/title | "Prelamin A and lamin A appear to be dispensable in the nuclear lamina."xsd:string |
| http://purl.uniprot.org/citations/16511604 | http://purl.uniprot.org/core/volume | "116"xsd:string |
| http://purl.uniprot.org/citations/16511604 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/16511604 |