Evidence map›Paper›PMID 38650658›Full record

ArticleFrontiers in molecular neuroscience2024

Allelic heterogeneity and abnormal vesicle recycling in

Michele Iacomino, Nadia Houerbi, Sara Fortuna, Jennifer Howe, Shan Li, Giovanna Scorrano, Antonella Riva, Kai-Wen Cheng, Mandy Steiman, Iskra Peltekova and 23 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in molecular neuroscience, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.7field-weighted citation impact, top 36% 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

2 citing papers in PubMed, 2 citations in OpenAlex.

  1. PLAA/UFD-3 regulates P-bodies through its intrinsic disordered domain.Proceedings of the National Academy of Sciences of the United States of America · 2025
    Article
  2. A mutational hotspot inFrontiers in cellular neuroscience · 2025
    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

33 authors at 10 institutions in 3 countries.

Michele Iacomino *Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Nadia Houerbi *Division of Biology and Biological Engineering, California Institute of Technology, Pasadena, CA, United States.
Sara FortunaDepartment of Chemical and Pharmaceutical Sciences, University of Trieste, Trieste, Italy.
Jennifer HoweGenetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
Shan LiDivision of Biology and Biological Engineering, California Institute of Technology, Pasadena, CA, United States.
Giovanna ScorranoDepartment of Pediatrics, Sant'Annunziata Hospital, University "G. D'Annunzio", Chieti, Italy.
Antonella RivaUnit of Medical Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Kai-Wen ChengDivision of Biology and Biological Engineering, California Institute of Technology, Pasadena, CA, United States.
Mandy SteimanMontreal Neurological Institute-Hospital, Azrieli Centre for Autism Research, McGill University, Montreal, QC, Canada.
Iskra PeltekovaMcGill University Health Centre, McGill University, Montreal, QC, Canada.
Afiqah YusufMontreal Neurological Institute-Hospital, Azrieli Centre for Autism Research, McGill University, Montreal, QC, Canada.
Simona BaldassariUnit of Medical Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Serena TamburroUnit of Medical Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Paolo ScudieriUnit of Medical Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Ilaria MusanteUnit of Medical Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Armando Di LudovicoDepartment of Pediatrics, Sant'Annunziata Hospital, University "G. D'Annunzio", Chieti, Italy.
Sara GuerrisiUnit of Medical Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Ganna BalaguraDepartment of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Genoa, Italy.
Antonio CorselloDepartment of Clinical Sciences and Community Health, University of Milan, Milan, Italy.
Stephanie EfthymiouDepartment of Neuromuscular Diseases, UCL Institute of Neurology, London, United Kingdom.
David MurphyDepartment of Neuromuscular Diseases, UCL Institute of Neurology, London, United Kingdom.
Paolo UvaClinical Bioinformatics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Alberto VerrottiDepartment of Pediatrics, University of Perugia, Perugia, Italy.
Chiara FiorilloDepartment of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Genoa, Italy.
Maurizio DelvecchioDepartment of Biotechnological and Applied Clinical Sciences, University of L'Aquila, L'Aquila, Italy.
Andrea AccogliDivision of Medical Genetics, Department of Specialized Medicine, McGill University, Montreal, QC, Canada.
Mayada ElsabbaghMontreal Neurological Institute-Hospital, Azrieli Centre for Autism Research, McGill University, Montreal, QC, Canada.
Henry HouldenDepartment of Neuromuscular Diseases, UCL Institute of Neurology, London, United Kingdom.
Stephen W SchererDepartment of Molecular Genetics, University of Toronto, Toronto, ON, Canada.
Pasquale StrianoDepartment of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Genoa, Italy.
Federico ZaraUnit of Medical Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Tsui-Fen ChouDivision of Biology and Biological Engineering, California Institute of Technology, Pasadena, CA, United States.
Vincenzo SalpietroDepartment of Biotechnological and Applied Clinical Sciences, University of L'Aquila, L'Aquila, Italy.
Istituti di Ricovero e Cura a Carattere Scientifico · ITCalifornia Institute of Technology · USIstituto Giannina Gaslini · ITMcGill University · CAUniversity of Genoa · ITHospital for Sick Children · CAMcGill University Health Centre · CAOspedale SS. Annunziata · ITUniversity of L'Aquila · ITUniversity of Trieste · IT

Funding

Dysregulation of p97/VCP disease mutants in IBM and FTLD-UR01NS102279 · NINDS · LUNDQUIST INSTITUTE FOR BIOMEDICAL INNOVATION AT HARBOR-UCLA MEDICAL CENTER · PI CHOU, TSUI-FEN · 2018 to 2022
$2.8M
NINDS NIH HHS R01 NS102279
6 · The paper itself

Abstract

The human

Indexed as

de novo variantsdevelopmental regressionneurodevelopmental disordersPLAA geneSNAREopathiessynaptic transmission

Identifiers

PMID38650658
PMCPMC11033462
OpenAlexW4394573611

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.