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- Capell, Brian C., et al. Show all 5 Authors
- Proceedings of the National Academy of Sciences of the United States of America 2007 v.104 no.12 pp. 4949-4954
- mitosis; point mutation; phenotype; gene overexpression; geranylgeranyl diphosphate synthase; chromosome segregation; genetic disorders; mutants; fibroblasts; exons; interphase; nuclear membrane
- ... Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder characterized by dramatic premature aging. Classic HGPS is caused by a de novo point mutation in exon 11 (residue 1824, C [rightward arrow] T) of the LMNA gene, activating a cryptic splice donor and resulting in a mutant lamin A (LA) protein termed "progerin/LAΔ50" that lacks the normal cleavage site to remove a C-terminal farn ...
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