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- W3106596327 abstract "Significance Nuclear envelopathies are a complex group of human diseases caused by mutations in nuclear envelope proteins, including progeria, myopathy, and dystonia. Here, we used the Caenorhabditis elegans germline as a model system to investigate the function of the OOC-5/torsinA AAA+ ATPase, which localizes to the nuclear envelope and is mutated in early-onset DYT1 dystonia in humans. We show that OOC-5/torsinA promotes the function of the LINC complex, which spans the nuclear envelope and transmits forces to the nuclear lamina. Remarkably, decreasing the function of OOC-5/torsinA or the LINC complex prevents nuclear collapse in the absence of a functional nuclear lamina. Therapeutics targeting torsinA or the LINC complex might prevent nuclear damage from endogenous forces in certain nuclear envelopathies." @default.
- W3106596327 created "2020-12-07" @default.
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- W3106596327 date "2020-11-23" @default.
- W3106596327 modified "2023-10-13" @default.
- W3106596327 title "Decreased mechanotransduction prevents nuclear collapse in a <i>Caenorhabditis elegans</i> laminopathy" @default.
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- W3106596327 doi "https://doi.org/10.1073/pnas.2015050117" @default.
- W3106596327 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7733798" @default.
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- W3106596327 hasPublicationYear "2020" @default.
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