Article
Nesprin-2 giant safeguards nuclear envelope architecture in LMNA S143F progeria cells.
Human molecular genetics - 1 Dec 2007
Kandert Sebastian, Lüke Yvonne, Kleinhenz Tobias, Neumann Sascha, Lu Wenshu, Jaeger Verena M, Munck Martina, Wehnert Manfred, Müller Clemens R, Zhou Zhongjun, Noegel Angelika A, Dabauvalle Marie-Christine, Karakesisoglou Iakowos
Abstract excerpt
The S143F lamin A/C point mutation causes a phenotype combining features of myopathy and progeria. We demonstrate here that patient dermal fibroblast cells have dysmorphic nuclei containing numerous blebs and lobulations, which progressively accumulate as cells age in culture. The lamin A/C organization is altered, showing intranuclear and nuclear envelope (NE) aggregates and presenting often a honeycomb...
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