2023
DOI: 10.1101/2023.04.26.538491
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TorsinA is essential for the timing and localization of neuronal nuclear pore complex biogenesis

Abstract: Nuclear pore complexes (NPCs) regulate information transfer between the nucleus and cytoplasm. NPC defects are linked to several neurological diseases, but the processes governing NPC biogenesis and spatial organization are poorly understood. Here, we identify a temporal window of strongly upregulated NPC biogenesis during neuronal maturation. We demonstrate that the AAA+ protein torsinA, whose loss of function causes the neurodevelopmental movement disorder DYT-TOR1A (DYT1) dystonia, coordinates NPC spatial o… Show more

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Cited by 4 publications
(4 citation statements)
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“…Remarkably, these herniations are quite analogous to those observed in yeast upon mutation of Brl1 [65], in that they contain several Nups at an electron-dense neck that presumably resembles an immature NPC but lack the cytosolic subunit Nup358 that would only be added after the INM/ONM fusion has occurred [42, 73,94]. Similar observations were made in mouse models [81,95]. Furthermore, torsin-deficient cells can be grown in large quantities, enabling a compositional analysis of nuclear envelope herniations by combining classical subcellar fractionation with comparative proteomics.…”
Section: Compromised Interphase Npc Assembly In a Neurological Disordersupporting
confidence: 68%
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“…Remarkably, these herniations are quite analogous to those observed in yeast upon mutation of Brl1 [65], in that they contain several Nups at an electron-dense neck that presumably resembles an immature NPC but lack the cytosolic subunit Nup358 that would only be added after the INM/ONM fusion has occurred [42, 73,94]. Similar observations were made in mouse models [81,95]. Furthermore, torsin-deficient cells can be grown in large quantities, enabling a compositional analysis of nuclear envelope herniations by combining classical subcellar fractionation with comparative proteomics.…”
Section: Compromised Interphase Npc Assembly In a Neurological Disordersupporting
confidence: 68%
“…fruit flies, mouse neurons, and human cell lines [73,[77][78][79][80][81]. Torsins are unusual members of the AAA+ ATPase protein superfamily, which is composed of ATPases associated with diverse cellular activities [78].…”
Section: Compromised Interphase Npc Assembly In a Neurological Disordermentioning
confidence: 99%
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