Evidence map›Paper›PMID 25107275›Full record

ArticleeLife2014

A role of OCRL in clathrin-coated pit dynamics and uncoating revealed by studies of Lowe syndrome cells.

Ramiro Nández, Daniel M Balkin, Mirko Messa, Liang Liang, Summer Paradise, Heather Czapla, Marco Y Hein, James S Duncan, Matthias Mann, Pietro De Camilli

Open access · goldAbstract read
In one paragraph

Article in eLife, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 74 papers.

0numbers the graph read from it
0cells of the map it votes in
74citing papers in PubMed
6.4field-weighted citation impact, top 3% 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

74 citing papers in PubMed, 121 citations in OpenAlex.

  1. Review
  2. Article
  3. BAG3 modulates clathrin-mediated endocytosis and tau uptake in astrocytes.American journal of physiology. Cell physiology · 2026
    Article
  4. Article
  5. Subcellular Cartography of the Phosphoinositide Multiverse.Biochimica et biophysica acta. Molecular and cell biology of lipids · 2026
    Review
  6. Article
  7. Article
  8. Article
  9. Review
  10. Modelling Lowe syndrome and Dent-2 disease using zebrafish.Frontiers in cell and developmental biology · 2025
    Review
  11. Review
  12. Article
  13. Article
  14. Phosphoinositides as membrane organizers.Nature reviews. Molecular cell biology · 2022
    Review
  15. PI(4,5)P2: signaling the plasma membrane.The Biochemical journal · 2022
    Article
  16. Article
  17. Article
  18. TheeLife · 2022
    Article
  19. PIPCommunications biology · 2022
    Article
  20. Gradients of PI(4,5)PFrontiers in cell and developmental biology · 2022
    Article

14 more citing papers are in PubMed but not listed here.

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

10 authors at 3 institutions in 2 countries.

Ramiro NándezDepartment of Cell Biology, Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, United States.
Daniel M BalkinDepartment of Cell Biology, Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, United States.
Mirko MessaDepartment of Cell Biology, Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, United States.
Liang LiangDepartment of Diagnostic Radiology, Yale University School of Medicine, New Haven, United States.
Summer ParadiseDepartment of Cell Biology, Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, United States.
Heather CzaplaDepartment of Cell Biology, Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, United States.
Marco Y HeinDepartment of Proteomics and Signal Transduction, Max Planck Institute of Biochemistry, Martinsried, Germany.ORCID http://orcid.org/0000-0002-9490-2261
James S DuncanDepartment of Diagnostic Radiology, Yale University School of Medicine, New Haven, United States.
Matthias MannDepartment of Proteomics and Signal Transduction, Max Planck Institute of Biochemistry, Martinsried, Germany.
Pietro De CamilliDepartment of Cell Biology, Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, United States.
Howard Hughes Medical Institute · USMax Planck Institute of Biochemistry · DEYale University · US

Funding

Yale Diabetes Research CenterP30DK045735 · NIDDK · YALE UNIVERSITY · PI Richard A Flavell · 1993 to 2026
$44.0M
MEDICAL SCIENTIST TRAINING PROGRAMT32GM007205 · NIGMS · YALE UNIVERSITY · PI KAZMIERCZAK, BARBARA I · 1985 to 2019
$42.9M
Yale/NIDA Neuroproteomics Research CenterP30DA018343 · NIDA · YALE UNIVERSITY · PI Marina R Picciotto · 2004 to 2026
$37.1M
Yale University Clinical and Translational Science Award ProgramUL1TR000142 · NCATS · YALE UNIVERSITY · PI SHERWIN, ROBERT S · 2012 to 2015
$31.8M
Molecular Mechanisms in Synaptic Vesicle RecyclingR37NS036251 · NINDS · YALE UNIVERSITY · PI DE CAMILLI, PIETRO · 2010 to 2016
$2.7M
OCRL and the pathogenesis of Lowe Syndrome and Dent DiseaseR01DK082700 · NIDDK · YALE UNIVERSITY · PI DE CAMILLI, PIETRO · 2009 to 2016
$2.4M
NCATS NIH HHS UL1 TR000142NIDA NIH HHS P30 DA018343NIDDK NIH HHS DK082700NIDDK NIH HHS DK45735NIDDK NIH HHS P30 DK045735NIDDK NIH HHS R01 DK082700NIGMS NIH HHS T32 GM007205NIGMS NIH HHS T32GM07205NINDS NIH HHS R37 NS036251NINDS NIH HHS R37NS036251
6 · The paper itself

Abstract

Mutations in the inositol 5-phosphatase OCRL cause Lowe syndrome and Dent's disease. Although OCRL, a direct clathrin interactor, is recruited to late-stage clathrin-coated pits, clinical manifestations have been primarily attributed to intracellular sorting defects. Here we show that OCRL loss in Lowe syndrome patient fibroblasts impacts clathrin-mediated endocytosis and results in an endocytic defect. These cells exhibit an accumulation of clathrin-coated vesicles and an increase in U-shaped clathrin-coated pits, which may result from sequestration of coat components on uncoated vesicles. Endocytic vesicles that fail to lose their coat nucleate the majority of the numerous actin comets present in patient cells. SNX9, an adaptor that couples late-stage endocytic coated pits to actin polymerization and which we found to bind OCRL directly, remains associated with such vesicles. These results indicate that OCRL acts as an uncoating factor and that defects in clathrin-mediated endocytosis likely contribute to pathology in patients with OCRL mutations.

Indexed as

Cells, CulturedClathrinClathrin-Coated VesiclesCoated Pits, Cell-MembraneEndocytosisFibroblastsHEK293 CellsHeLa CellsHumansLuminescent ProteinsMicroscopy, ConfocalMicroscopy, ElectronMicroscopy, FluorescenceMutationOculocerebrorenal SyndromePhosphatidylinositol PhosphatesClathrinLuminescent ProteinsOCRL protein, humanPhosphatidylinositol PhosphatesPhosphoric Monoester HydrolasesProteomeSNX9 protein, humanSorting Nexinsactin cometscell biologyclathrin-mediated endocytosishumanhuman biologyLowe syndromemedicinePI(4,5)P2SNX9uncoating

Identifiers

PMID25107275
PMCPMC4358339
OpenAlexW2141466024

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.