Ontology highlight
ABSTRACT:
SUBMITTER: Columbaro M
PROVIDER: S-EPMC2773834 | biostudies-literature | 2005 Nov
REPOSITORIES: biostudies-literature
Columbaro M M Capanni C C Mattioli E E Novelli G G Parnaik V K VK Squarzoni S S Maraldi N M NM Lattanzi G G
Cellular and molecular life sciences : CMLS 20051101 22
Hutchinson-Gilford progeria (HGPS) is a premature aging syndrome associated with LMNA mutations. Progeria cells bearing the G608G LMNA mutation are characterized by accumulation of a mutated lamin A precursor (progerin), nuclear dysmorphism and chromatin disorganization. In cultured HGPS fibroblasts, we found worsening of the cellular phenotype with patient age, mainly consisting of increased nuclear-shape abnormalities, progerin accumulation and heterochromatin loss. Moreover, transcript distri ...[more]