Ontology highlight
ABSTRACT:
SUBMITTER: Harhouri K
PROVIDER: S-EPMC5973194 | biostudies-literature | 2018 Jan
REPOSITORIES: biostudies-literature
Harhouri Karim K Frankel Diane D Bartoli Catherine C Roll Patrice P De Sandre-Giovannoli Annachiara A Lévy Nicolas N
Nucleus (Austin, Tex.) 20180101 1
Hutchinson-Gilford progeria syndrome (HGPS) is a sporadic, autosomal dominant disorder characterized by premature and accelerated aging symptoms leading to death at the mean age of 14.6 years usually due to cardiovascular complications. HGPS is caused by a de novo point mutation in the LMNA gene encoding the intermediate filament proteins lamins A and C which are structural components of the nuclear lamina. This mutation leads to the production of a truncated toxic form of lamin A, issued from a ...[more]