Evidence map›Paper›PMID 42023152›Full record

ArticleiScience2026

ISGylation is disrupted by

Venkateshwarlu Bandi, Myrrhe Venema, Iona Wallace, Merel O Mol, Anita Nikoncuk, Rachel Schot, Marjon van Slegtenhorst, Emilia K Bijlsma, Amjad Khan, Susan M White and 6 more

Abstract read
In one paragraph

Article in iScience, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

16 authors.

Venkateshwarlu BandiPediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, SD 57104, USA.
Myrrhe VenemaDepartment of Clinical Genetics, Erasmus MC University Medical Center, 3000 CA Rotterdam, the Netherlands.
Iona WallaceMRC Protein Phosphorylation and Ubiquitylation Unit, School of Life Sciences, University of Dundee, Dundee DD1 5EH, UK.
Merel O MolDepartment of Clinical Genetics, Erasmus MC University Medical Center, 3000 CA Rotterdam, the Netherlands.
Anita NikoncukDepartment of Clinical Genetics, Erasmus MC University Medical Center, 3000 CA Rotterdam, the Netherlands.
Rachel SchotDepartment of Clinical Genetics, Erasmus MC University Medical Center, 3000 CA Rotterdam, the Netherlands.
Marjon van SlegtenhorstDepartment of Clinical Genetics, Erasmus MC University Medical Center, 3000 CA Rotterdam, the Netherlands.
Emilia K BijlsmaDepartment of Clinical Genetics. LUMC University Medical Center, 2333 ZA Leiden, the Netherlands.
Amjad KhanDepartment of Zoology, University of Lakki Marwat, Lakki Marwat 28420, Khyber Pakhtunkhwa, Pakistan.
Susan M WhiteVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC 3052, Australia.
Rocio RiusDepartment of Paediatrics, University of Melbourne, Parkville, VIC 3010, Australia.
Martin B DelatyckiVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC 3052, Australia.
Vinodh NarayananCenter for Rare Childhood Disorders (C4RCD), Translational Genomics Research Institute (TGen), Phoenix, AZ 85004, USA.
Kirby N SwatekMRC Protein Phosphorylation and Ubiquitylation Unit, School of Life Sciences, University of Dundee, Dundee DD1 5EH, UK.
Tahsin Stefan BarakatDepartment of Clinical Genetics, Erasmus MC University Medical Center, 3000 CA Rotterdam, the Netherlands.
Francisco BustosPediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, SD 57104, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

ISGylation is a ubiquitin-like enzymatic cascade that transfers the small modifier ISG15 to lysine residues of protein substrates. ISGylation occurs in a three-step enzymatic cascade involving UBA7 (E1), UBE2L6 (E2), and HERC5, TRIM25, or human homolog of ariadne (HHARI) (E3) enzymes. This mechanism regulates core cellular processes, but its role in neurodevelopmental disorders remains unclear. Here, we identified individuals with neurodevelopmental disorder phenotypes harboring biallelic

Indexed as

GeneticsMolecular biologyNeuroscience

Identifiers

PMID42023152
PMCPMC13097003

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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.