Article
The R527H mutation in LMNA gene causes an increased sensitivity to ionizing radiation.
Cell cycle (Georgetown, Tex.) - 1 Jul 2008
di Masi Alessandra, D'Apice Maria Rosaria, Ricordy Ruggero, Tanzarella Caterina, Novelli Giuseppe
Abstract excerpt
Mandibuloacral dysplasia type A (MADA; OMIM # 248370) is a premature ageing disease caused by the homozygous R527H mutation in the LMNA gene. At the cellular level, MADA is characterized by unprocessed prelamin A accumulation, nuclear architecture alterations, chromatin defects and increased incidence of apoptosis. In some progeroid laminopathies (e.g., HGPS) it has been demonstrated that such biochemical and...
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