Evidence map›Paper›PMID 36704923›Full record

ArticleEMBO molecular medicine2023

Infancy-onset diabetes caused by de-regulated AMPylation of the human endoplasmic reticulum chaperone BiP.

Luke A Perera, Andrew T Hattersley, Heather P Harding, Matthew N Wakeling, Sarah E Flanagan, Ibrahim Mohsina, Jamal Raza, Alice Gardham, David Ron, Elisa De Franco

Open access · goldAbstract read
In one paragraph

Article in EMBO molecular medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.

0numbers the graph read from it
0cells of the map it votes in
23citing papers in PubMed
6.5field-weighted citation impact, top 3% 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

23 citing papers in PubMed, 31 citations in OpenAlex.

  1. Article
  2. Article
  3. Inhibition of FicD-mediated AMPylation and deAMPylation by isoprenoid diphosphates.Proceedings of the National Academy of Sciences of the United States of America · 2026
    Article
  4. Article
  5. Article
  6. Article
  7. AMPylation: key roles in biological regulation across prokaryotes and eukaryotes.Frontiers in cellular and infection microbiology · 2026
    Review
  8. Review
  9. Review
  10. Review
  11. The functional dynamics of FicD's TPR domain are modulated by the interaction with ATP and BiP.Proceedings of the National Academy of Sciences of the United States of America · 2025
    Article
  12. Article
  13. Article
  14. Article
  15. Article
  16. Article
  17. Neonatal diabetes mellitus around the world: Update 2024.Journal of diabetes investigation · 2024
    Review
  18. Article
  19. Article
  20. Review
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

10 authors at 4 institutions in 2 countries.

Luke A Perera *Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK.ORCID 0000-0002-0032-1176
Andrew T Hattersley *Institute of Biomedical and Clinical Science, College of Medicine and Health, University of Exeter, Exeter, UK.ORCID 0000-0001-5620-473X
Heather P Harding *Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK.ORCID 0000-0002-7359-7974
Matthew N Wakeling *Institute of Biomedical and Clinical Science, College of Medicine and Health, University of Exeter, Exeter, UK.
Sarah E FlanaganInstitute of Biomedical and Clinical Science, College of Medicine and Health, University of Exeter, Exeter, UK.
Ibrahim MohsinaDepartment of Endocrine and Diabetes, National Institute of Child Health, Karachi, Pakistan.
Jamal RazaDepartment of Endocrine and Diabetes, National Institute of Child Health, Karachi, Pakistan.
Alice GardhamNorth West Thames Regional Genetics Service, Harrow, UK.
David Ron *Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK.ORCID 0000-0002-3014-5636
Elisa De Franco *Institute of Biomedical and Clinical Science, College of Medicine and Health, University of Exeter, Exeter, UK.ORCID 0000-0002-1437-7891
University of Exeter · GBUniversity of Cambridge · GBNational Institute of Child Health · PKWessex Regional Genetics Laboratory · GB

Funding

Wellcome Trust 105636/Z/14/ZWellcome Trust 224407/Z/21Z
6 · The paper itself

Abstract

Dysfunction of the endoplasmic reticulum (ER) in insulin-producing beta cells results in cell loss and diabetes mellitus. Here we report on five individuals from three different consanguineous families with infancy-onset diabetes mellitus and severe neurodevelopmental delay caused by a homozygous p.(Arg371Ser) mutation in FICD. The FICD gene encodes a bifunctional Fic domain-containing enzyme that regulates the ER Hsp70 chaperone, BiP, via catalysis of two antagonistic reactions: inhibitory AMPylation and stimulatory deAMPylation of BiP. Arg371 is a conserved residue in the Fic domain active site. The FICD

Indexed as

Diabetes MellitusEndoplasmic Reticulum Chaperone BiPAdenosine MonophosphateAnimalsCricetinaeCricetulusHumansInfantProtein Processing, Post-TranslationalAdenosine MonophosphateEndoplasmic Reticulum Chaperone BiPdiabetes mellitusendoplasmic reticulum chaperonemutationnucleotidyltransferasespost-translational

Identifiers

PMID36704923
PMCPMC9994480
OpenAlexW4318214947

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.