Evidence map›Paper›PMID 34880790›Full record

ArticleFrontiers in psychiatry2021

Cellular Bioenergetics and AMPK and TORC1 Signalling in Blood Lymphoblasts Are Biomarkers of Clinical Status in FMR1 Premutation Carriers.

Danuta Z Loesch, Bruce E Kemp, Minh Q Bui, Paul R Fisher, Claire Y Allan, Oana Sanislav, Kevin R W Ngoei, Anna Atkinson, Flora Tassone, Sarah J Annesley and 1 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in psychiatry, 2021. 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
0.9field-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, 5 citations in OpenAlex.

  1. Trial
  2. Article
  3. Review
  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

11 authors at 5 institutions in 2 countries.

Danuta Z LoeschSchool of Psychology and Public Health, La Trobe University, Bundoora, VA, Australia.
Bruce E KempMary MacKillop Institute for Health Research, Australian Catholic University, Melbourne, VA, Australia.
Minh Q BuiCentre for Molecular, Environmental, Genetic and Analytic, Epidemiology, University of Melbourne, Parkville, VA, Australia.
Paul R FisherDepartment of Physiology Anatomy and Microbiology, La Trobe University, Bundoora, VA, Australia.
Claire Y AllanDepartment of Physiology Anatomy and Microbiology, La Trobe University, Bundoora, VA, Australia.
Oana SanislavDepartment of Physiology Anatomy and Microbiology, La Trobe University, Bundoora, VA, Australia.
Kevin R W NgoeiSt. Vincent's Institute of Medical Research and Department of Medicine, University of Melbourne, Fitzroy, VA, Australia.
Anna AtkinsonSchool of Psychology and Public Health, La Trobe University, Bundoora, VA, Australia.
Flora TassoneDepartment of Biochemistry and Molecular Medicine, School of Medicine, University of California, Davis, Sacramento, CA, United States.
Sarah J AnnesleyDepartment of Physiology Anatomy and Microbiology, La Trobe University, Bundoora, VA, Australia.
Elsdon StoreyDepartment of Medicine (Neuroscience), Monash University, Alfred Hospital Campus, Melbourne, VIC, Australia.
La Trobe University · AUThe University of Melbourne · AUMonash University · AUSt Vincents Institute of Medical Research · AUUniversity of California Davis Medical Center · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Fragile X Associated Tremor/Ataxia Syndrome (FXTAS) is a neurodegenerative disorder affecting carriers of premutation alleles (PM) of the X-linked FMR1 gene, which contain CGG repeat expansions of 55-200 range in a non-coding region. This late-onset disorder is characterised by the presence of tremor/ataxia and cognitive decline, associated with the white matter lesions throughout the brain, especially involving the middle cerebellar peduncles. Nearly half of older male and ~ 20% of female PM carriers develop FXTAS. While there is evidence for mitochondrial dysfunction in neural and some peripheral tissues from FXTAS patients (though less obvious in the non-FXTAS PM carriers), the results from peripheral blood mononuclear cells (PBMC) are still controversial. Motor, cognitive, and neuropsychiatric impairments were correlated with measures of mitochondrial and non-mitochondrial respiratory activity, AMPK, and TORC1 cellular stress-sensing protein kinases, and CGG repeat size, in a sample of adult FXTAS male and female carriers. Moreover, the levels of these cellular measures, all derived from Epstein- Barr virus (EBV)- transformed and easily accessible blood lymphoblasts, were compared between the FXTAS (

Indexed as

AMPKcognitive measuresFMR1 premutationFragile X-associated tremor/ataxia syndrome (FXTAS)lymphoblasts' bioenergetics measuresmotor scoresSCL-90 scaleTORC1

Identifiers

PMID34880790
PMCPMC8645580
OpenAlexW3215769355

What Socratic holds

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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 Socratic graph.