Hutchinson-Gilford Progeria Syndrome (HGPS) is a lethal congenital disorder characterized by premature aging symptom in children and early death. It is often used as model to understand the molecular mechanism of aging. This condition is caused by a single nucleotide substitution which leads a cryptic splice site in the C-terminal Lamin A. The process gives rise to a pathological protein without 50 amino-acid called LAΔ50, whose expression induces many cellular defects, as lobulated nuclei, loss of peripheral heterochromatin, accumulation of DNA damage, telomere aberration, clustering of nuclear pores, leading to premature cellular senescence (Schreiber et al.
Expansion Microscopy: A Tool to Investigate Hutchinson-Gilford Progeria Syndrome at Molecular Level
Pesce, Luca;COZZOLINO, MARCO;Diaspro, Alberto;Bianchini, Paolo
2018-01-01
Abstract
Hutchinson-Gilford Progeria Syndrome (HGPS) is a lethal congenital disorder characterized by premature aging symptom in children and early death. It is often used as model to understand the molecular mechanism of aging. This condition is caused by a single nucleotide substitution which leads a cryptic splice site in the C-terminal Lamin A. The process gives rise to a pathological protein without 50 amino-acid called LAΔ50, whose expression induces many cellular defects, as lobulated nuclei, loss of peripheral heterochromatin, accumulation of DNA damage, telomere aberration, clustering of nuclear pores, leading to premature cellular senescence (Schreiber et al.
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