Evidence map›Paper›PMID 29045835›Full record

ArticleCell reports2017

A Role for Dystonia-Associated Genes in Spinal GABAergic Interneuron Circuitry.

Juliet Zhang, Jarret A P Weinrich, Jeffrey B Russ, John D Comer, Praveen K Bommareddy, Richard J DiCasoli, Christopher V E Wright, Yuqing Li, Peter J van Roessel, Julia A Kaltschmidt

Open access · goldAbstract read
In one paragraph

Article in Cell reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.

0numbers the graph read from it
0cells of the map it votes in
19citing papers in PubMed
1.8field-weighted citation impact, top 15% 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

19 citing papers in PubMed, 25 citations in OpenAlex.

  1. Mapping the peripheral sensory dimension of dystonia: a five-axis analysis.Journal of neural transmission (Vienna, Austria : 1996) · 2026
    Review
  2. Article
  3. Article
  4. RANBP17 Overexpression Restores Nucleocytoplasmic Transport and Ameliorates Neurodevelopment in Induced DYT1 Dystonia Motor Neurons.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2024
    Article
  5. Article
  6. Deletion of Transferrin Receptor 1 in Parvalbumin Interneurons Induces a Hereditary Spastic Paraplegia-Like Phenotype.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2023
    Article
  7. Pathophysiology of Dyt1-Science translational medicine · 2023
    Article
  8. Article
  9. Article
  10. Review
  11. Proprioception revisited: where do we stand?Current opinion in physiology · 2021
    Article
  12. Article
  13. Spinal Inhibitory Interneurons: Gatekeepers of Sensorimotor Pathways.International journal of molecular sciences · 2021
    Review
  14. Article
  15. Article
  16. Cell type and circuit modules in the spinal cord.Current opinion in neurobiology · 2019
    Review
  17. Transcription factor Ptf1a in development, diseases and reprogramming.Cellular and molecular life sciences : CMLS · 2019
    Review
  18. Article
  19. Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

10 authors at 7 institutions in 1 country.

Juliet ZhangDevelopmental Biology Program, Sloan Kettering Institute, New York, NY 10065, USA; Neuroscience Program, Weill Cornell Graduate School of Medical Sciences, Weill Cornell Medicine, New York, NY 10065, USA.
Jarret A P WeinrichDevelopmental Biology Program, Sloan Kettering Institute, New York, NY 10065, USA; Biochemistry, Cell and Molecular Biology Program, Weill Cornell Graduate School of Medical Sciences, Weill Cornell Medicine, New York, NY 10065, USA.
Jeffrey B RussDevelopmental Biology Program, Sloan Kettering Institute, New York, NY 10065, USA; Neuroscience Program, Weill Cornell Graduate School of Medical Sciences, Weill Cornell Medicine, New York, NY 10065, USA; Weill Cornell/Rockefeller/Sloan Kettering Tri-Institutional MD-PhD Program, New York, NY 10065, USA.
John D ComerDevelopmental Biology Program, Sloan Kettering Institute, New York, NY 10065, USA; Neuroscience Program, Weill Cornell Graduate School of Medical Sciences, Weill Cornell Medicine, New York, NY 10065, USA; Weill Cornell/Rockefeller/Sloan Kettering Tri-Institutional MD-PhD Program, New York, NY 10065, USA.
Praveen K BommareddyDevelopmental Biology Program, Sloan Kettering Institute, New York, NY 10065, USA.
Richard J DiCasoliDevelopmental Biology Program, Sloan Kettering Institute, New York, NY 10065, USA.
Christopher V E WrightVanderbilt University Program in Developmental Biology, Vanderbilt Center for Stem Cell Biology, Department of Cell and Developmental Biology, Vanderbilt University, Nashville, TN 37232, USA.
Yuqing LiDepartment of Neurology, College of Medicine, University of Florida, Gainesville, FL 32610, USA.
Peter J van RoesselDepartment of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, CA 94305, USA.
Julia A KaltschmidtDevelopmental Biology Program, Sloan Kettering Institute, New York, NY 10065, USA; Neuroscience Program, Weill Cornell Graduate School of Medical Sciences, Weill Cornell Medicine, New York, NY 10065, USA; Biochemistry, Cell and Molecular Biology Program, Weill Cornell Graduate School of Medical Sciences, Weill Cornell Medicine, New York, NY 10065, USA; Department of Neurosurgery, Stanford University School of Medicine, Stanford, CA 94305, USA. Electronic address: jukalts@stanford.edu.
Kettering University · USCornell University · USStanford University · USTri-Institutional PhD Program in Chemical Biology · USUniversity of Florida · USVanderbilt University · USWeill Cornell Medicine · US

Funding

X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Hongbiao Carl Lekaye · 1985 to 2026
$347.4M
Tumor Immunology and Microenvironment Research ProgramP30CA068485 · NCI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI STACIE B DUSETZINA · 1995 to 2026
$172.8M
Weill Cornell/Rockefeller/Sloan-Kettering MST ProgramT32GM007739 · NIGMS · WEILL MEDICAL COLL OF CORNELL UNIV · PI HSU, KATHARINE C · 1985 to 2023
$51.1M
Translational Analysis CoreP30DK058404 · NIDDK · VANDERBILT UNIVERSITY MEDICAL CENTER · PI RICHARD M. PEEK · 2002 to 2026
$29.9M
Vanderbilt Diabetes Research CenterP30DK020593 · NIDDK · VANDERBILT UNIVERSITY MEDICAL CENTER · PI ALVIN C POWERS · 2012 to 2026
$29.3M
TRANSGENIC MOUSE/ ES CELL SHARES RESOURCESP60DK020593 · NIDDK · VANDERBILT UNIVERSITY · PI POWERS, ALVIN C · 1986 to 2011
$28.1M
Transcriptional networks of pancreas endocrine cell differentiationU19DK042502 · NIDDK · VANDERBILT UNIVERSITY · PI MAGNUSON, MARK A · 2001 to 2010
$21.5M
Architecture and communication controlling the efficient generation of beta cellsU01DK089570 · NIDDK · VANDERBILT UNIVERSITY · PI WRIGHT, CHRISTOPHER V · 2010 to 2014
$5.5M
Molecular Mechanisms Regulating Inhibitory Circuitry in the Spinal CordR01NS083998 · NINDS · STANFORD UNIVERSITY · PI KALTSCHMIDT, JULIA ANNA · 2013 to 2023
$3.6M
Restless Legs Syndrome: Pathophysiology using Btbd9 Conditional Knockout MiceR01NS082244 · NINDS · UNIVERSITY OF FLORIDA · PI LI, YUQING · 2014 to 2018
$1.6M
TRANSGENIC MICE COREP01DK042502 · NIDDK · VANDERBILT UNIVERSITY · PI MAGNUSON, MARK A · 1990 to 2000
$994k
NCI NIH HHS P30 CA008748NCI NIH HHS P30 CA068485NIDDK NIH HHS P01 DK042502NIDDK NIH HHS P30 DK020593NIDDK NIH HHS P30 DK058404NIDDK NIH HHS P60 DK020593NIDDK NIH HHS U01 DK089570NIDDK NIH HHS U19 DK042502NIGMS NIH HHS T32 GM007739NINDS NIH HHS R01 NS082244NINDS NIH HHS R01 NS083998
6 · The paper itself

Abstract

Spinal interneurons are critical modulators of motor circuit function. In the dorsal spinal cord, a set of interneurons called GABApre presynaptically inhibits proprioceptive sensory afferent terminals, thus negatively regulating sensory-motor signaling. Although deficits in presynaptic inhibition have been inferred in human motor diseases, including dystonia, it remains unclear whether GABApre circuit components are altered in these conditions. Here, we use developmental timing to show that GABApre neurons are a late Ptf1a-expressing subclass and localize to the intermediate spinal cord. Using a microarray screen to identify genes expressed in this intermediate population, we find the kelch-like family member Klhl14, implicated in dystonia through its direct binding with torsion-dystonia-related protein Tor1a. Furthermore, in Tor1a mutant mice in which Klhl14 and Tor1a binding is disrupted, formation of GABApre sensory afferent synapses is impaired. Our findings suggest a potential contribution of GABApre neurons to the deficits in presynaptic inhibition observed in dystonia.

Indexed as

Genetic Predisposition to DiseaseAnimalsBiomarkersDystoniaGABAergic NeuronsInterneuronsMaleMice, Mutant StrainsMolecular ChaperonesMutationNerve NetPresynaptic TerminalsProprioceptionSpinal CordTranscription FactorsBiomarkersDyt1 protein, mouseMolecular Chaperonestranscription factor PTF1Transcription FactorsdystoniaGABApre neuroninhibitory interneuronKlhl14neuronal circuitryspinal cordsynapsesTor1a

Identifiers

PMID29045835
PMCPMC5658202
OpenAlexW2766298174

What OpenQuestion holds

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LicenceCC BY-NC-ND
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.