摘要 |
Nearly all subjects affected with Hutchinson Gilford progeria syndrome (HGPS) carry mutation LMNA G608G (GGC>GGT), within exon 11 of LMNA activating a splicing donor site which leads to a deletion of 50 amino acids at the carboxyl-terminal of prelamin A. The invention provides an isolated peptide of sequence GAQSPQNC. The lamin A G608G polypeptide comprises the GAQSPQNC peptide. The invention provides monoclonal and polyclonal antibodies, which specifically recognize GAQSPQNC peptide, and any polypeptide which comprises GAQSPQNC. The invention provides methods, which use the inventive antibodies to detect biological conditions associated with lamin A G608G; and to identify agents which inhibit expression or localization of lamin A G608G.
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