Evidence map›Paper›PMID 32342107›Full record

ArticleThe Journal of cell biology2020

Torsin ATPase deficiency leads to defects in nuclear pore biogenesis and sequestration of MLF2.

Anthony J Rampello, Ethan Laudermilch, Nidhi Vishnoi, Sarah M Prophet, Lin Shao, Chenguang Zhao, C Patrick Lusk, Christian Schlieker

Open access · greenAbstract read
In one paragraph

Article in The Journal of cell biology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers.

0numbers the graph read from it
0cells of the map it votes in
42citing papers in PubMed
3.8field-weighted citation impact, top 6% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

42 citing papers in PubMed, 72 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
  4. Article
  5. Structure, function and assembly of nuclear pore complexes.Nature reviews. Molecular cell biology · 2026
    Review
  6. First Glance at Myeloid Leukaemia Factor 2 in Cardiomyocytes.Journal of cardiovascular development and disease · 2025
    Article
  7. Article
  8. Article
  9. Article
  10. Review
  11. Review
  12. Review
  13. Article
  14. Article
  15. Article
  16. Article
  17. Article
  18. Article
  19. On the origin of the nucleus: a hypothesis.Microbiology and molecular biology reviews : MMBR · 2023
    Review
  20. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors at 1 institution in 1 country.

Anthony J RampelloDepartment of Molecular Biophysics and Biochemistry, Yale University, New Haven, CT.
Ethan LaudermilchDepartment of Molecular Biophysics and Biochemistry, Yale University, New Haven, CT.
Nidhi VishnoiDepartment of Cell Biology, Yale School of Medicine, New Haven, CT.
Sarah M ProphetDepartment of Molecular Biophysics and Biochemistry, Yale University, New Haven, CT.
Lin ShaoDepartment of Neuroscience, Yale School of Medicine, New Haven, CT.
Chenguang ZhaoDepartment of Molecular Biophysics and Biochemistry, Yale University, New Haven, CT.
C Patrick LuskDepartment of Cell Biology, Yale School of Medicine, New Haven, CT.
Christian SchliekerDepartment of Molecular Biophysics and Biochemistry, Yale University, New Haven, CT.
Yale University · US

Funding

Skill Development for Diverse Scientific Careers: A New Course Predoctoral Program in Cellular and Molecular BiologyT32GM007223 · NIGMS · YALE UNIVERSITY · PI BASERGA, SUSAN J · 1985 to 2019
$31.0M
The mechanism of ESCRT-mediated surveillance of the nuclear envelope barrierR01GM105672 · NIGMS · YALE UNIVERSITY · PI LUSK, CHARLES PATRICK · 2013 to 2025
$4.6M
Structure-function analysis of Torsin ATPases in the context of the membraneR01GM114401 · NIGMS · YALE UNIVERSITY · PI SCHLIEKER, CHRISTIAN DIRK · 2016 to 2019
$1.3M
Defining the nuclear envelope-resident protein turnover machinery implicated in diseases affecting cholesterol metabolismR01GM126835 · NIGMS · YALE UNIVERSITY · PI SCHLIEKER, CHRISTIAN DIRK · 2018 to 2021
$1.3M
NIGMS NIH HHS R01 GM105672NIGMS NIH HHS R01 GM114401NIGMS NIH HHS R01 GM126835NIGMS NIH HHS T32 GM007223
6 · The paper itself

Abstract

Nuclear envelope herniations (blebs) containing FG-nucleoporins and ubiquitin are the phenotypic hallmark of Torsin ATPase manipulation. Both the dynamics of blebbing and the connection to nuclear pore biogenesis remain poorly understood. We employ a proteomics-based approach to identify myeloid leukemia factor 2 (MLF2) as a luminal component of the bleb. Using an MLF2-based live-cell imaging platform, we demonstrate that nuclear envelope blebbing occurs rapidly and synchronously immediately after nuclear envelope reformation during mitosis. Bleb formation is independent of ubiquitin conjugation within the bleb, but strictly dependent on POM121, a transmembrane nucleoporin essential for interphase nuclear pore biogenesis. Nup358, a late marker for interphase nuclear pore complex (NPC) biogenesis, is underrepresented relative to FG-nucleoporins in nuclear envelopes of Torsin-deficient cells. The kinetics of bleb formation, its dependence on POM121, and a reduction of mature NPCs in Torsin-deficient cells lead us to conclude that the hallmark phenotype of Torsin manipulation represents aberrant NPC intermediates.

Indexed as

Gene Knockout TechniquesHeLa CellsHumansInterphaseMembrane GlycoproteinsMicroscopy, Electron, TransmissionMitosisMolecular ChaperonesNuclear EnvelopeNuclear PoreNuclear Pore Complex ProteinsNuclear ProteinsRNA, Small InterferingUbiquitinMembrane GlycoproteinsMLF2 protein, humanMolecular ChaperonesNuclear Pore Complex ProteinsNuclear ProteinsPOM121 protein, humanran-binding protein 2RNA, Small InterferingTOR1A protein, humanUbiquitin

Identifiers

PMID32342107
PMCPMC7265317
OpenAlexW3019102719

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-SA
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.