Evidence map›Paper›PMID 36711956›Full record

ArticlebioRxiv : the preprint server for biology2023

Impaired polyamine metabolism causes behavioral and neuroanatomical defects in a novel mouse model of Snyder-Robinson Syndrome.

Oluwaseun Akinyele, Anushe Munir, Marie A Johnson, Megan S Perez, Yuan Gao, Jackson R Foley, Yijen Wu, Tracy Murray-Stewart, Robert A Casero, Hulya Bayir and 1 more

Open access · greenAbstract readPreprint
In one paragraph

Article in bioRxiv : the preprint server for biology, 2023. 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, 2 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

11 authors at 2 institutions in 1 country.

Oluwaseun AkinyeleDiv. of Genetic and Genomic Medicine, Dept. of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, USA.
Anushe MunirDiv. of Genetic and Genomic Medicine, Dept. of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, USA.
Marie A JohnsonDiv. of Genetic and Genomic Medicine, Dept. of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, USA.
Megan S PerezDiv. of Genetic and Genomic Medicine, Dept. of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, USA.
Yuan GaoChildren's Neuroscience Institute, Dept. of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, USA.
Jackson R FoleySidney Kimmel Comprehensive Cancer Center, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.
Yijen WuDept. of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, USA.
Tracy Murray-StewartSidney Kimmel Comprehensive Cancer Center, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.
Robert A CaseroSidney Kimmel Comprehensive Cancer Center, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.
Hulya BayirChildren's Neuroscience Institute, Dept. of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, USA.
Dwi U KemaladewiDiv. of Genetic and Genomic Medicine, Dept. of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, USA.
University of Pittsburgh · USJohns Hopkins University · US

Funding

Implications of Genetic Diversity in Muscular DystrophyDP2AR081047 · NIAMS · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI KEMALADEWI, DWI UTAMI · 2021 to 2024
$2.2M
Therapeutic genetics and disease modeling in LAMA2-CMDR01AR078872 · NIAMS · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI GERARD VOCKLEY · 2022 to 2026
$2.2M
High-Throughput Computing for Genomics and Bioinformatics ResearchS10OD028483 · OD · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI LEE, ADRIAN V · 2021 to 2021
$574k
NIAMS NIH HHS DP2 AR081047NIAMS NIH HHS R01 AR078872NIH HHS S10 OD028483
6 · The paper itself

Abstract

Polyamines (putrescine, spermidine, and spermine) are essential molecules for normal cellular functions and are subject to strict metabolic regulation. Mutations in the gene encoding spermine synthase (SMS) lead to accumulation of spermidine in an X-linked recessive disorder known as Snyder-Robinson syndrome (SRS). Presently, no treatments exist for this rare disease that manifests with a spectrum of symptoms including intellectual disability, developmental delay, thin habitus, and low muscle tone. The development of therapeutic interventions for SRS will require a suitable disease-specific animal model that recapitulates many of the abnormalities observed in patients. Here, we characterize the molecular, behavioral, and neuroanatomical features of a mouse model with a missense mutation in

Indexed as

diseaseneurologicalpathogenesisPolyaminesspermineSpermine synthase

Identifiers

PMID36711956
PMCPMC9882240
OpenAlexW4316810550

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.