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Atypical nuclear envelope condensates linked to neurological disorders reveal nucleoporin-directed chaperone activities - Nature Cell Biology

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Atypical nuclear envelope condensates linked to neurological disorders reveal nucleoporin-directed chaperone activities - Nature Cell Biology

DYT1 dystonia is a debilitating neurological movement disorder arising from mutation in the AAA+ ATPase TorsinA. The hallmark of Torsin dysfunction is nuclear envelope blebbing resulting from defects in nuclear pore complex biogenesis. Whether blebs actively contribute to disease manifestation is unknown. We report that FG-nucleoporins in the bleb lumen form aberrant condensates and contribute to DYT1 dystonia by provoking two proteotoxic insults.

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Atypical nuclear envelope condensates linked to neurological disorders reveal nucleoporin-directed chaperone activities - Nature Cell Biology

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Atypical nuclear envelope condensates linked to neurological disorders reveal nucleoporin-directed chaperone activities - Nature Cell Biology

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