• molecular
  • 7-Even though no single mechanism has clearly emerged to explain the complex phenotype in HGPS, literature suggests that farnesylated progerin is the molecular culprit. (spotidoc.com)
  • known
  • A 50 amino acid deletion in the LMNA gene found in HGPS patients eliminates the cleavage site in prelamin A, causing an accumulation of farnesylated prelamin A. The buildup of this protein, known as progerin/LA∆50, occurs at the nuclear rim. (lakeforest.edu)