Evidence map›Paper›PMID 41760624›Full record

ArticleNature communications2026

NEDAMSS syndrome-related truncating and missense mutations are associated with aberrant liquid-liquid phase separation of IRF2BPL.

Marco Dell'Oca, Stefania Boggio Bozzo, Serena Vaglietti, Chiara Marchetti, Chiara Di Luca, Pietro Munarin, Michael Nicoli, Rossella Indellicato, Davide Ravanelli, Giorgia Falanga and 23 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Nature communications, 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

33 authors.

Marco Dell'Oca'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.ORCID http://orcid.org/0009-0005-5892-4075
Stefania Boggio Bozzo'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.
Serena Vaglietti'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.
Chiara Marchetti'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.
Chiara Di LucaSchool of Medicine, Vita-Salute San Raffaele University, Milan, Italy.
Pietro MunarinSchool of Medicine, Vita-Salute San Raffaele University, Milan, Italy.
Michael NicoliSchool of Medicine, Vita-Salute San Raffaele University, Milan, Italy.ORCID http://orcid.org/0009-0007-9034-4892
Rossella IndellicatoSchool of Medicine, Vita-Salute San Raffaele University, Milan, Italy.
Davide RavanelliSchool of Medicine, Vita-Salute San Raffaele University, Milan, Italy.ORCID http://orcid.org/0009-0003-6266-9682
Giorgia FalangaSchool of Medicine, Vita-Salute San Raffaele University, Milan, Italy.
Angelo IannielliIRCCS San Raffaele Scientific Institute, Milan, Italy.
Mirko LuoniIRCCS San Raffaele Scientific Institute, Milan, Italy.ORCID http://orcid.org/0000-0002-5006-1827
Alessia LoffredaIRCCS San Raffaele Scientific Institute, Milan, Italy.ORCID http://orcid.org/0000-0003-4523-5666
Valeria BernoIRCCS San Raffaele Scientific Institute, Milan, Italy.
Paolo BianchiniNanoscopy and NIC@IIT, CHT, Istituto Italiano di Tecnologia, Genoa, Italy.ORCID http://orcid.org/0000-0001-6457-751X
Sarah SerticDepartment of Biosciences, University of Milan, Milan, Italy.ORCID http://orcid.org/0000-0003-1458-410X
Antonio Conforti'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.ORCID http://orcid.org/0009-0008-2890-9925
Shima Rashidiani'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.
Eleonora Aimaretti'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.
Massimo Collino'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.ORCID http://orcid.org/0000-0001-8782-3496
Ilaria CecereDepartment of Chemistry, University of Turin, Turin, Italy.
Angelo GalloDepartment of Chemistry, University of Turin, Turin, Italy.ORCID http://orcid.org/0000-0001-9778-4822
Federica SantoroDepartment of Pharmacy, University of Naples Federico II, Naples, Italy.
Diego BrancaccioDepartment of Pharmacy, University of Naples Federico II, Naples, Italy.
Samuele RossoDepartment of Life Sciences and Systems Biology, University of Turin, Turin, Italy.ORCID http://orcid.org/0009-0002-3011-2778
Giovanna Di NardoDepartment of Life Sciences and Systems Biology, University of Turin, Turin, Italy.ORCID http://orcid.org/0000-0002-4169-2635
Raffaele Pertusio'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.
Federico CesanoDepartment of Chemistry, University of Turin, Turin, Italy.ORCID http://orcid.org/0000-0002-4056-4738
Francisco J Monje QuirogaDepartment of Neurophysiology and Neuropharmacology, Medical University of Vienna, Vienna, Austria.
Mirella Ghirardi'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.ORCID http://orcid.org/0000-0002-2368-886X
Silvestro Roatta'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.
Luca ColnaghiSchool of Medicine, Vita-Salute San Raffaele University, Milan, Italy. colnaghi.luca@hsr.it.ORCID http://orcid.org/0000-0002-9699-5318
Ferdinando Fiumara'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy. ferdinando.fiumara@unito.it.ORCID http://orcid.org/0000-0003-0715-7863

Funding

Fondazione Telethon (Telethon Foundation) GJC22078Ministero dell'Istruzione, dell'Università e della Ricerca (Ministry of Education, University and Research) Prin-2022 20228BS45E
6 · The paper itself

Abstract

Since 2018, truncating and missense mutations in the IRF2BPL gene have been associated with the neurodevelopmental NEDAMSS syndrome and other IRF2BPL-related disorders. These mutations mainly affect the gene region encoding the central portion of the IRF2BPL protein, whose physiopathological roles are poorly understood. Here we show that this region contains three low-complexity regions (LCR

Indexed as

Mutation, MissenseAnimalsCell NucleusCytoplasmHEK293 CellsHumansNeuronsPhase SeparationProtein Domains

Identifiers

PMID41760624
PMCPMC13066210

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.