Evidence map›Paper›PMID 40633098›Full record

ArticleJournal of chemical information and modeling2025

Impact of Genetic Variants Associated with Neurodevelopmental Disorders on the WAVE Regulatory Complex.

Song Xie, Ke Zuo, Silvia De Rubeis, Giorgio Bonollo, Giorgio Colombo, Paolo Ruggerone, Paolo Carloni

Abstract read
In one paragraph

Article in Journal of chemical information and modeling, 2025. 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
–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

3 citing papers in PubMed.

  1. Article
  2. Review
  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

7 authors.

Song XieComputational Biomedicine, Institute of Neuroscience and Medicine INM-9, Forschungszentrum Jülich GmbH, 52428Jülich, Germany.
Ke ZuoComputational Biomedicine, Institute of Neuroscience and Medicine INM-9, Forschungszentrum Jülich GmbH, 52428Jülich, Germany.
Silvia De RubeisSeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York 10029, United States.
Giorgio BonolloDipartimento di Chimica, Università di Pavia, Via Taramelli 12, 27100 Pavia, Italy.
Giorgio ColomboDipartimento di Chimica, Università di Pavia, Via Taramelli 12, 27100 Pavia, Italy.ORCID 0000-0002-1318-668X
Paolo RuggeroneDepartment of Physics, University of Cagliari, Monserrato, 09042 Cagliari, Italy.ORCID 0000-0003-0825-0824
Paolo CarloniComputational Biomedicine, Institute of Neuroscience and Medicine INM-9, Forschungszentrum Jülich GmbH, 52428Jülich, Germany.ORCID 0000-0002-9010-0149

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The WAVE regulatory complex (WRC) is a heteropentamer necessary for the regulation of actin cytoskeleton. Genetic variants in components of the WRC have been associated with increased risk for neurodevelopmental disorders (NDDs), including autism spectrum disorder (ASD). Some of the missense variants associated with NDDs have been reported to cause aberrant detachment of the WRC domain active C-terminal region (ACR). Using molecular dynamics simulations, we show that these variants cause a similar increase in disorder in a specific helix of ACR as well as a decrease in ACR/WRC interactions, irrespective of their position and chemical nature. These might assist ACR detachment. We further demonstrate their impact on the large-scale motions of the complex. Taken together, these results do suggest that different modifications associated with the NDD-associated variants converge on similar changes to the structural dynamics of the WRC.

Indexed as

Genetic VariationNeurodevelopmental DisordersHumansMolecular Dynamics Simulation

Identifiers

PMID40633098
PMCPMC12308791

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.