Increased solubility of lamins and redistribution of lamin C in X-linked Emery–Dreifuss muscular dystrophy fibroblasts

E Markiewicz, R Venables, R Quinlan… - Journal of structural …, 2002 - Elsevier
Emery–Dreifuss muscular dystrophy (EDMD) is caused by mutations in the gene encoding
the nuclear membrane protein emerin (X-linked EDMD) or in the gene encoding lamins A/C
(autosomal dominant EDMD). One hypothesis explaining the disease suggests that the
mutations lead to weakness of the nuclear lamina. To test this hypothesis we investigated
lamin solubility and distribution in skin fibroblasts from X-EDMD patients. Using in situ
extraction of cells and immunofluorescence microscopy or biochemical fractionation and …