Evidence map›Paper›PMID 38298782›Full record

ArticleBiological psychiatry global open science2024

Reduced MUNC18-1 Levels, Synaptic Proteome Changes, and Altered Network Activity in

Annemiek Arienne van Berkel, Hanna Charlotte Andrea Lammertse, Miriam Öttl, Frank Koopmans, Mala Misra-Isrie, Marieke Meijer, Robertino Dilena, Peter Marin van Hasselt, Marc Engelen, Mieke van Haelst and 4 more

Erratum issuedOpen access · goldAbstract read
In one paragraph

Article in Biological psychiatry global open science, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed
3.1field-weighted citation impact, top 9% 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

13 citing papers in PubMed, 15 citations in OpenAlex.

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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

14 authors at 5 institutions in 2 countries.

Annemiek Arienne van BerkelDepartment of Functional Genomics, Center for Neurogenomics and Cognitive Research, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.
Hanna Charlotte Andrea LammertseDepartment of Functional Genomics, Center for Neurogenomics and Cognitive Research, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.
Miriam ÖttlDepartment of Functional Genomics, Center for Neurogenomics and Cognitive Research, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.
Frank KoopmansDepartment of Functional Genomics, Center for Neurogenomics and Cognitive Research, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.
Mala Misra-IsrieFunctional Genomics, Department of Human Genetics, Center for Neurogenomics and Cognitive Research, Amsterdam Universitair Medische Centra, Amsterdam, the Netherlands.
Marieke MeijerFunctional Genomics, Department of Human Genetics, Center for Neurogenomics and Cognitive Research, Amsterdam Universitair Medische Centra, Amsterdam, the Netherlands.
Robertino DilenaClinical Neurophysiology Unit, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Peter Marin van HasseltDepartment of Metabolic Diseases, Division of Pediatrics, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, the Netherlands.
Marc EngelenDepartment of (Pediatric) Neurology, Amsterdam Universitair Medische Centra, Amsterdam, the Netherlands.
Mieke van HaelstDepartment of Human Genetics, Clinical Genetics Section, Amsterdam University Medical Center, Amsterdam, the Netherlands.
August Benjamin SmitDepartment of Molecular and Cellular Neurobiology, Center for Neurogenomics and Cognitive Research, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.
Sophie van der SluisDepartment of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.
Ruud Franciscus ToonenDepartment of Functional Genomics, Center for Neurogenomics and Cognitive Research, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.
Matthijs VerhageDepartment of Functional Genomics, Center for Neurogenomics and Cognitive Research, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.
Vrije Universiteit Amsterdam · NLAmsterdam University Medical Centers · NLCancer Genomics Centre · NLFondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico · ITWilhelmina Children's Hospital · NL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Methods: We combined live-cell imaging, electrophysiology, confocal microscopy, and mass spectrometry proteomics to characterize cellular phenotypes of induced pluripotent stem cell-derived neurons from 6 patients with Results: Neurons from all patients showed normal in vitro development, morphology, and synapse formation, but reduced MUNC18-1 RNA and protein levels. In addition, a proteome-wide screen identified dysregulation of proteins related to synapse function and RNA processes. Neuronal networks showed shared as well as patient-specific phenotypes in activity frequency, network irregularity, and synchronicity, especially when networks were challenged by increasing excitability. No shared effects were observed in synapse physiology of single neurons except for a few patient-specific phenotypes. Similarities between functional and proteome phenotypes suggested 2 patient clusters, not explained by gene variant type. Conclusions: Together, these data show that decreased MUNC18-1 levels, dysregulation of synaptic proteins, and altered network activity are shared cellular phenotypes of

Indexed as

iPSCMUNC18-1Neurodevelopmental disorderSNAREopathySTXBP1-related disorderSynaptic transmission

Identifiers

PMID38298782
PMCPMC10829628
OpenAlexW4378901213

What OpenQuestion holds

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LicenceCC BY
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Registered trials

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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.