Evidence map›Paper›PMID 38161385›Full record

ArticleFrontiers in molecular biosciences2023

Misfolding of fukutin-related protein (FKRP) variants in congenital and limb girdle muscular dystrophies.

Christopher T Esapa, R A Jeffrey McIlhinney, Adrian J Waite, Matthew A Benson, Jasmin Mirzayan, Henriett Piko, Ágnes Herczegfalvi, Rita Horvath, Veronika Karcagi, Maggie C Walter and 4 more

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

Article in Frontiers in molecular biosciences, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.5field-weighted citation impact, top 32% 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

3 citing papers in PubMed, 3 citations in OpenAlex.

  1. Review
  2. Article
  3. 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

14 authors at 10 institutions in 5 countries.

Christopher T Esapa *MRC Harwell Institute, Harwell Campus, Oxfordshire, United Kingdom.
R A Jeffrey McIlhinney *MRC Anatomical Neuropharmacology Unit, University of Oxford, Oxford, United Kingdom.
Adrian J WaiteCentre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff, United Kingdom.
Matthew A BensonCharles River Laboratories, Saffron Walden, United Kingdom.
Jasmin MirzayanCentre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff, United Kingdom.
Henriett PikoDepartment of Internal Medicine and Oncology, Semmelweis University, Budapest, Hungary.
Ágnes HerczegfalviSemmelweis University Pediatric Center Tűzoltó Street Unit, Budapest, Hungary.
Rita HorvathDepartment of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom.
Veronika KarcagiNational Institute of Environmental Health, Department of Molecular Genetics and Diagnostics, Istenhegyi Genetic Diagnostic Centre, Budapest, Hungary.
Maggie C WalterFriedrich-Baur-Institute at the Department of Neurology, University Hospital, Munich, Germany.
Hanns LochmüllerChildren's Hospital of Eastern Ontario Research Institute, Division of Neurology, Department of Medicine, The Ottawa Hospital, and Brain and Mind Research Institute, University of Ottawa, Ottawa, ON, Canada.
Pierre J RizkallahDivision of Infection and Immunity, School of Medicine, Cardiff University, Cardiff, United Kingdom.
Qi L LuMcColl-Lockwood Laboratory for Muscular Dystrophy Research, Carolinas Medical Center, Charlotte, United States.
Derek J BlakeCentre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff, United Kingdom.
Cardiff University · GBSemmelweis University · HUCarolinas Medical Center · USCharles River Laboratories (United Kingdom) · GBFriedrich Baur Stiftung · DEMary Lyon Centre at MRC Harwell · GBOrszagos Kornyezetegeszsegugyi Intezet · HUUniversity of Cambridge · GBUniversity of Ottawa · CAUniversity of Oxford · GB

Funding

Medical Research Council G1000848Medical Research Council MR/L010305/1Medical Research Council MR/N025431/2Medical Research Council MR/V009346/1Wellcome Trust
6 · The paper itself

Abstract

Fukutin-related protein (FKRP, MIM ID 606596) variants cause a range of muscular dystrophies associated with hypo-glycosylation of the matrix receptor, α-dystroglycan. These disorders are almost exclusively caused by homozygous or compound heterozygous missense variants in the

Indexed as

chaperonefukutin-related proteinmissense mutationmuscular dystrophyprotein misfoldingstructural modelling

Identifiers

PMID38161385
PMCPMC10755465
OpenAlexW4389435932

What OpenQuestion holds

Textmetadata
LicenceCC BY
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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.