Evidence map›Paper›PMID 26467605›Full record

ArticleBehavioural brain research2016

Circadian profiling in two mouse models of lysosomal storage disorders; Niemann Pick type-C and Sandhoff disease.

Katie Richardson, Achilleas Livieratos, Richard Dumbill, Steven Hughes, Gauri Ang, David A Smith, Lauren Morris, Laurence A Brown, Stuart N Peirson, Frances M Platt and 2 more

Open access · hybridAbstract readComparative Study
PubMed Full text at PMC Publisher
In one paragraph

Article in Behavioural brain research, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
1.1field-weighted citation impact, top 23% 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

4 citing papers in PubMed, 7 citations in OpenAlex.

  1. Review
  2. Review
  3. Brain RNA-Seq Profiling of the Mucopolysaccharidosis Type II Mouse Model.International journal of molecular sciences · 2017
    Article
  4. 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

12 authors at 4 institutions in 1 country.

Katie RichardsonMedical Research Council Functional Genomics Unit, Department of Physiology, Anatomy and Genetics, University of Oxford, Parks Road, Oxford, OX1 3PT, UK.
Achilleas LivieratosMedical Research Council Functional Genomics Unit, Department of Physiology, Anatomy and Genetics, University of Oxford, Parks Road, Oxford, OX1 3PT, UK.
Richard DumbillMedical Research Council Functional Genomics Unit, Department of Physiology, Anatomy and Genetics, University of Oxford, Parks Road, Oxford, OX1 3PT, UK.
Steven HughesNuffield Department of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, West Wing, John Radcliffe Hospital, UK.
Gauri AngMedical Research Council Functional Genomics Unit, Department of Physiology, Anatomy and Genetics, University of Oxford, Parks Road, Oxford, OX1 3PT, UK.
David A SmithDepartment of Pharmacology, University of Oxford, Mansfield Road, Oxford, UK.
Lauren MorrisDepartment of Pharmacology, University of Oxford, Mansfield Road, Oxford, UK.
Laurence A BrownNuffield Department of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, West Wing, John Radcliffe Hospital, UK.
Stuart N PeirsonNuffield Department of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, West Wing, John Radcliffe Hospital, UK.
Frances M PlattDepartment of Pharmacology, University of Oxford, Mansfield Road, Oxford, UK.
Kay E DaviesMedical Research Council Functional Genomics Unit, Department of Physiology, Anatomy and Genetics, University of Oxford, Parks Road, Oxford, OX1 3PT, UK. Electronic address: kay.davies@dpag.ox.ac.uk.
Peter L OliverMedical Research Council Functional Genomics Unit, Department of Physiology, Anatomy and Genetics, University of Oxford, Parks Road, Oxford, OX1 3PT, UK. Electronic address: peter.oliver@dpag.ox.ac.uk.
University of Oxford · GBGenomics (United Kingdom) · GBJohn Radcliffe Hospital · GBMedical Research Council · GB

Funding

Medical Research Council MC_UU_12021/2
6 · The paper itself

Abstract

Sleep and circadian rhythm disruption is frequently associated with neurodegenerative disease, yet it is unclear how the specific pathology in these disorders leads to abnormal rest/activity profiles. To investigate whether the pathological features of lysosomal storage disorders (LSDs) influence the core molecular clock or the circadian behavioural abnormalities reported in some patients, we examined mouse models of Niemann-Pick Type-C (Npc1 mutant, Npc1(nih)) and Sandhoff (Hexb knockout, Hexb(-/-)) disease using wheel-running activity measurement, neuropathology and clock gene expression analysis. Both mutants exhibited regular, entrained rest/activity patterns under light:dark (LD) conditions despite the onset of their respective neurodegenerative phenotypes. A slightly shortened free-running period and changes in Per1 gene expression were observed in Hexb(-/-) mice under constant dark conditions (DD); however, no overt neuropathology was detected in the suprachiasmatic nucleus (SCN). Conversely, despite extensive cholesterol accumulation in the SCN of Npc1(nih) mutants, no circadian disruption was observed under constant conditions. Our results indicate the accumulation of specific metabolites in LSDs may differentially contribute to circadian deregulation at the molecular and behavioural level.

Indexed as

ActigraphyAnimalsbeta-N-AcetylhexosaminidasesCholesterolCircadian RhythmCLOCK ProteinsDisease Models, AnimalFluorescent Antibody TechniqueIntracellular Signaling Peptides and ProteinsMelanopsinMice, Inbred BALB CMice, KnockoutMotor ActivityNiemann-Pick C1 ProteinNiemann-Pick Disease, Type CPhotoperiodbeta-N-AcetylhexosaminidasesCholesterolClock protein, mouseCLOCK ProteinsIntracellular Signaling Peptides and ProteinsMelanopsinNiemann-Pick C1 ProteinNpc1 protein, mousePou4f1 protein, mouseProteinsRod OpsinsTranscription Factor Brn-3AAtaxiaCircadianLysosome storage disorderMouse mutant

Identifiers

PMID26467605
PMCPMC4678117
OpenAlexW1787713693

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.