Evidence map›Paper›PMID 20479890›Full record

ArticlePloS one2010

Structural and functional deficits in a neuronal calcium sensor-1 mutant identified in a case of autistic spectrum disorder.

Mark T W Handley, Lu-Yun Lian, Lee P Haynes, Robert D Burgoyne

Open access · goldAbstract read
In one paragraph

Article in PloS one, 2010. 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
2.8field-weighted citation impact, top 9% 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, 70 citations in OpenAlex.

  1. Trial
  2. Article
  3. Article
  4. Review
  5. Neuronal calcium sensor 1 (NCS1) dependent modulation of neuronal morphology and development.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2021
    Article
  6. Article
  7. Article
  8. Review
  9. Article
  10. Article
  11. Solving for X: Evidence for sex-specific autism biomarkers across multiple transcriptomic studies.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2019
    Article
  12. Calcium Sensors in Neuronal Function and Dysfunction.Cold Spring Harbor perspectives in biology · 2019
    Review
  13. Review
  14. Article
  15. NCS-1 is a regulator of calcium signaling in health and disease.Biochimica et biophysica acta. Molecular cell research · 2018
    Review
  16. Article
  17. Review
  18. Article
  19. Article
  20. Role of calcium channels in bipolar disorder.Current psychopharmacology · 2017
    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

4 authors at 1 institution in 1 country.

Mark T W HandleyThe Physiological Laboratory, School of Biomedical Sciences, University of Liverpool, Liverpool, United Kingdom.
Lu-Yun Lian
Lee P Haynes
Robert D Burgoyne
University of Liverpool · GB

Funding

Wellcome Trust 080796Wellcome Trust 080796/Z/06/Z
6 · The paper itself

Abstract

Neuronal calcium sensor-1 (NCS-1) is a Ca(2+) sensor protein that has been implicated in the regulation of various aspects of neuronal development and neurotransmission. It exerts its effects through interactions with a range of target proteins one of which is interleukin receptor accessory protein like-1 (IL1RAPL1) protein. Mutations in IL1RAPL1 have recently been associated with autism spectrum disorders and a missense mutation (R102Q) on NCS-1 has been found in one individual with autism. We have examined the effect of this mutation on the structure and function of NCS-1. From use of NMR spectroscopy, it appeared that the R102Q affected the structure of the protein particularly with an increase in the extent of conformational exchange in the C-terminus of the protein. Despite this change NCS-1(R102Q) did not show changes in its affinity for Ca(2+) or binding to IL1RAPL1 and its intracellular localisation was unaffected. Assessment of NCS-1 dynamics indicated that it could rapidly cycle between cytosolic and membrane pools and that the cycling onto the plasma membrane was specifically changed in NCS-1(R102Q) with the loss of a Ca(2+) -dependent component. From these data we speculate that impairment of the normal cycling of NCS-1 by the R102Q mutation could have subtle effects on neuronal signalling and physiology in the developing and adult brain.

Indexed as

Amino Acid SubstitutionAnimalsAutistic DisorderCalciumCalcium SignalingCell MembraneHumansInterleukin-1 Receptor Accessory ProteinIntracellular SpaceMagnetic Resonance SpectroscopyMiceMutant ProteinsMutationNeuronal Calcium-Sensor ProteinsNeuropeptidesProtein BindingCalciumfrequenin calcium sensor proteinsInterleukin-1 Receptor Accessory ProteinMutant ProteinsNeuronal Calcium-Sensor ProteinsNeuropeptides

Identifiers

PMID20479890
PMCPMC2866544
OpenAlexW2015422863

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.