ArticlebioRxiv : the preprint server for biology2023
TorsinA is essential for the timing and localization of neuronal nuclear pore complex biogenesis.
Sumin Kim, Sébastien Phan, Thomas R Shaw, Mark H Ellisman, Sarah L Veatch, Sami J Barmada, Samuel S Pappas, William T Dauer
Open access · greenAbstract readPreprint
In one paragraphArticle in bioRxiv : the preprint server for biology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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0citing papers in PubMed
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What it found
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2 · The registryThe trial behind it
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0 citing papers in PubMed, 4 citations in OpenAlex.
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4 · The recordCorrections and comments
5 · Who and what moneyAuthors and funding
8 authors at 3 institutions in 1 country.
Sumin KimCellular and Molecular Biology Graduate Program, University of Michigan, Ann Arbor, MI.
Sébastien PhanNational Center for Microscopy and Imaging Research, Center for Research on Biological Systems, Department of Neurosciences, School of Medicine, University of California San Diego, La Jolla, CA.
Thomas R ShawDepartment of Biophysics, University of Michigan, Ann Arbor, MI.
Mark H EllismanNational Center for Microscopy and Imaging Research, Center for Research on Biological Systems, Department of Neurosciences, School of Medicine, University of California San Diego, La Jolla, CA.
Sarah L VeatchDepartment of Biophysics, University of Michigan, Ann Arbor, MI.
Sami J BarmadaCellular and Molecular Biology Graduate Program, University of Michigan, Ann Arbor, MI.
Samuel S PappasPeter O'Donnell Jr. Brain Institute, UT Southwestern, Dallas, TX.
William T DauerPeter O'Donnell Jr. Brain Institute, UT Southwestern, Dallas, TX.
University of Michigan · USSouthwestern Medical Center · USUniversity of California San Diego · US
Funding
CELLULAR AND MOLECULAR BIOLOGY AT MICHIGANT32GM007315 · NIGMS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI PUTHENVEEDU, MANOJKUMAR A · 1985 to 2021
$12.8MNational Center for Microscopy and Imaging Research: A BRAIN Technology Integration and Dissemination ResourceU24NS120055 · NINDS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI ELLISMAN, MARK H · 2021 to 2025
$5.4MSupport of and Extensions to the Cell Image LibraryR01GM082949 · NIGMS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI ELLISMAN, MARK H · 2007 to 2019
$4.1MRNA decay in amyotrophic lateral sclerosis and frontotemporal lobar degenerationR01NS097542 · NINDS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI BARMADA, SAMI · 2016 to 2025
$3.8MCell Type Specific Genetic Manipulation to Dissect Cholinergic Interneuron Function and Plasticity in a Symptomatic Model of DYT1 DystoniaR01NS110853 · NINDS · UT SOUTHWESTERN MEDICAL CENTER · PI DAUER, WILLIAM T. · 2021 to 2025
$2.5MNuclear Envelope, Lipoprotein Metabolism, and Hepatic SteatosisR01DK118480 · NIDDK · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI DAUER, WILLIAM T., GINSBERG, HENRY N · 2019 to 2022
$2.1MAtypical TDP43 isoforrms driving neurodegeneration in FTD/ALSR01NS113943 · NINDS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI BARMADA, SAMI · 2020 to 2024
$1.9MTorsinA function and dystonia-related dysfunction in developing and mature CNSR01NS077730 · NINDS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI DAUER, WILLIAM T. · 2013 to 2017
$1.9MFEI TITAN HALO 300kV INTERMEDIATE VOLTAGE ELECTRON MICROSCOPES10OD021784 · OD · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI ELLISMAN, MARK H · 2017 to 2017
$1.9MIon channel regulation by heterogeneous membranesR01GM129347 · NIGMS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI VEATCH, SARAH L · 2019 to 2022
$1.1MSpatiotemporal analysis of TDP-43 toxicity and endolysosomal turnover mechanismsR56NS128110 · NINDS · UNIVERSITY OF ARIZONA · PI BARMADA, SAMI, BUCHAN, JOHN ROSS · 2022 to 2022
$393kNIDDK NIH HHS R01 DK118480NIGMS NIH HHS R01 GM082949NIGMS NIH HHS R01 GM129347NIGMS NIH HHS T32 GM007315NIH HHS S10 OD021784NINDS NIH HHS R01 NS077730NINDS NIH HHS R01 NS097542NINDS NIH HHS R01 NS110853NINDS NIH HHS R01 NS113943NINDS NIH HHS R56 NS128110NINDS NIH HHS U24 NS120055
6 · The paper itselfAbstract
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 organization during this period without impacting total NPC density. Using a new mouse line in which endogenous Nup107 is Halo-Tagged, we find that torsinA is essential for correct localization of NPC formation. In the absence of torsinA, the inner nuclear membrane buds excessively at sites of mislocalized, nascent NPCs, and NPC assembly completion is delayed. Our work implies that NPC spatial organization and number are independently regulated and suggests that torsinA is critical for the normal localization and assembly kinetics of NPCs.
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PMID37162852
PMCPMC10168336
OpenAlexW4367173180
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