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• W1934956719 endingPage "4468" @default.
• W1934956719 startingPage "4459" @default.
• W1934956719 abstract "Dunnigan-type familial partial lipodystrophy (FPLD), characterized by an abnormal body fat redistribution with insulin resistance, is caused by missense heterozygous mutations in A-type lamins (lamins A and C). A- and B-type lamins are ubiquitous intermediate filament proteins that polymerize at the inner face of the nuclear envelope. We have analyzed primary cultures of skin fibroblasts from three patients harboring R482Q or R482W mutations. These cells were euploid and able to cycle and divide. A subpopulation of these cells had abnormal blebbing nuclei with A-type lamins forming a peripheral meshwork, which was frequently disorganized. Inner nuclear membrane protein emerin, an A-type lamin-binding protein, strictly colocalized with this abnormal meshwork. Cells from lipodystrophic patients often had other nuclear envelope defects, mainly consisting of nuclear envelope herniations that were deficient in B-type lamins, nuclear pore complexes, lamina-associated protein 2 beta, and chromatin. The mechanical properties of nuclear envelopes were altered, as judged from the extensive deformations observed in nuclei from heat-shocked cells, and from the low stringency of extraction of their components. These structural nuclear alterations were caused by the lamins A/C mutations, as the same changes were introduced in human control fibroblasts by ectopic expression of R482W mutated lamin A." @default.
• W1934956719 created "2016-06-24" @default.
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• W1934956719 date "2001-12-15" @default.
• W1934956719 modified "2023-10-11" @default.
• W1934956719 title "Nuclear envelope disorganization in fibroblasts from lipodystrophic patients with heterozygous R482Q/W mutations in the lamin A/C gene" @default.
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• W1934956719 doi "https://doi.org/10.1242/jcs.114.24.4459" @default.
• W1934956719 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/11792811" @default.
• W1934956719 hasPublicationYear "2001" @default.
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