Article

DYT1 dystonia patient-derived fibroblasts have increased deformability and susceptibility to damage by mechanical forces

2018-11-28

Abstract excerpt

DYT1 dystonia is a neurological movement disorder that is caused by a loss-of-function mutation in the DYT1 / TOR1A gene, which encodes torsinA, the luminal ATPase-associated (AAA+) protein. TorsinA is required for the assembly of functional linker of nucleoskeleton and cytoskeleton (LINC) complexes, and consequently the mechanical integration of the nucleus and the cytoskeleton. Despite the potential implicatio...

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Literature Corpus work: 11455419-f240-5b11-b3f4-05158894623f
DOI: 10.1101/480186

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