Evidence map›Paper›PMID 39332416›Full record

ArticleCell reports. Medicine2024

A candidate loss-of-function variant in SGIP1 causes synaptic dysfunction and recessive parkinsonism.

Marianna Decet, Patrick Scott, Sabine Kuenen, Douja Meftah, Jef Swerts, Carles Calatayud, Sandra F Gallego, Natalie Kaempf, Eliana Nachman, Roman Praschberger and 7 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Cell reports. Medicine, 2024. 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. Review
  2. Article
  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

17 authors.

Marianna DecetVIB-KU Leuven Center for Brain & Disease Research, 3000 Leuven, Belgium; KU Leuven, Department of Neurosciences, Leuven Brain Institute, 3000 Leuven, Belgium.
Patrick ScottLaboratory of Molecular Biology, Sainte-Justine University Hospital Center, Montréal QC H3T 1C5, Canada.
Sabine KuenenVIB-KU Leuven Center for Brain & Disease Research, 3000 Leuven, Belgium; KU Leuven, Department of Neurosciences, Leuven Brain Institute, 3000 Leuven, Belgium.
Douja MeftahLaboratory of Pulmonary Physiology, Department of Pediatrics, Sainte-Justine University Hospital Center, Montréal QC H3T 1C5, Canada.
Jef SwertsVIB-KU Leuven Center for Brain & Disease Research, 3000 Leuven, Belgium; KU Leuven, Department of Neurosciences, Leuven Brain Institute, 3000 Leuven, Belgium.
Carles CalatayudVIB-KU Leuven Center for Brain & Disease Research, 3000 Leuven, Belgium; KU Leuven, Department of Neurosciences, Leuven Brain Institute, 3000 Leuven, Belgium.
Sandra F GallegoVIB-KU Leuven Center for Brain & Disease Research, 3000 Leuven, Belgium; KU Leuven, Department of Neurosciences, Leuven Brain Institute, 3000 Leuven, Belgium.
Natalie KaempfVIB-KU Leuven Center for Brain & Disease Research, 3000 Leuven, Belgium; KU Leuven, Department of Neurosciences, Leuven Brain Institute, 3000 Leuven, Belgium.
Eliana NachmanVIB-KU Leuven Center for Brain & Disease Research, 3000 Leuven, Belgium; KU Leuven, Department of Neurosciences, Leuven Brain Institute, 3000 Leuven, Belgium.
Roman PraschbergerVIB-KU Leuven Center for Brain & Disease Research, 3000 Leuven, Belgium; KU Leuven, Department of Neurosciences, Leuven Brain Institute, 3000 Leuven, Belgium.
Nils SchoovaertsVIB-KU Leuven Center for Brain & Disease Research, 3000 Leuven, Belgium; KU Leuven, Department of Neurosciences, Leuven Brain Institute, 3000 Leuven, Belgium.
Chris C TangCenter for Neurosciences, The Feinstein Institutes for Medical Research, Manhasset, NY 11030, USA.
David EidelbergCenter for Neurosciences, The Feinstein Institutes for Medical Research, Manhasset, NY 11030, USA.
Samir Al AdawiDepartment of Behavioral Medicine, College of Medicine & Health Sciences, Sultan Qaboos University, Al Khod 123, Muscat, Oman.
Abdullah Al AsmiNeurology Unit, Department of Medicine, College of Medicine and Health Sciences, Sultan Qaboos University, Al Khod 123, Muscat, Oman.
Ramachandiran NandhagopalNeurology Unit, Department of Medicine, College of Medicine and Health Sciences, Sultan Qaboos University, Al Khod 123, Muscat, Oman. Electronic address: rnandagopal@yahoo.com.
Patrik VerstrekenVIB-KU Leuven Center for Brain & Disease Research, 3000 Leuven, Belgium; KU Leuven, Department of Neurosciences, Leuven Brain Institute, 3000 Leuven, Belgium. Electronic address: patrik.verstreken@kuleuven.be.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Synaptic dysfunction is recognized as an early step in the pathophysiology of parkinsonism. Several genetic mutations affecting the integrity of synaptic proteins cause or increase the risk of developing disease. We have identified a candidate causative mutation in synaptic "SH3GL2 Interacting Protein 1" (SGIP1), linked to early-onset parkinsonism in a consanguineous Arab family. Additionally, affected siblings display intellectual, cognitive, and behavioral dysfunction. Metabolic network analysis of [

Indexed as

Parkinsonian DisordersPedigreeSynapsesAdultAnimalsConsanguinityDrosophila melanogasterFemaleGenes, RecessiveHumansLoss of Function MutationMaleMutationSynaptic Transmissionmultivesicular bodyseizuresSGIP1 variantsynaptic proteostasisyoung-onset parkinsonism

Identifiers

PMID39332416
PMCPMC11513836

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.