Evidence map›Paper›PMID 36335793›Full record

ArticleMolecular genetics and metabolism2022

GM3 synthase deficiency increases brain glucose metabolism in mice.

Sivakama S Bharathi, Bob B Zhang, Eli Paul, Yuxun Zhang, Alexandra V Schmidt, Benjamin Fowler, Yijen Wu, Michael Tiemeyer, Kei-Ichiro Inamori, Jin-Ichi Inokuchi and 1 more

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

Article in Molecular genetics and metabolism, 2022. 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
0.3field-weighted citation impact, top 47% 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, 4 citations in OpenAlex.

  1. Review
  2. 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

11 authors at 3 institutions in 2 countries.

Sivakama S BharathiDivision of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, United States of America.
Bob B ZhangDivision of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, United States of America.
Eli PaulDivision of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, United States of America.
Yuxun ZhangDivision of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, United States of America.
Alexandra V SchmidtDivision of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, United States of America.
Benjamin FowlerDivision of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, United States of America.
Yijen WuDepartment of Developmental Biology, University of Pittsburgh, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, United States of America.
Michael TiemeyerComplex Carbohydrate Research Center, University of Georgia, Athens, GA, United States of America.
Kei-Ichiro InamoriDivision of Glycopathology, Institute of Molecular Biomembrane and Glycobiology, Tohoku Medical and Pharmaceutical University, Sendai, Miyagi 981-8558, Japan.
Jin-Ichi InokuchiDivision of Glycopathology, Institute of Molecular Biomembrane and Glycobiology, Tohoku Medical and Pharmaceutical University, Sendai, Miyagi 981-8558, Japan.
Eric S GoetzmanDivision of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, United States of America.. Electronic address: eric.goetzman@chp.edu.
Tohoku Medical and Pharmaceutical University · JPUniversity of Georgia · USUniversity of Pittsburgh · US

Funding

Regulation of Peroxisomal Metabolism by Lysine AcylationR01DK090242 · NIDDK · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI GOETZMAN, ERIC S · 2011 to 2024
$5.4M
Optimizing medium-chain lipids for the treatment of long-chain fatty acid oxidation disordersR01HD103602 · NICHD · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI GOETZMAN, ERIC S · 2021 to 2025
$1.7M
Ganglioside Replacement Therapy for GM3 Synthase DeficiencyR21HD097403 · NICHD · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI GOETZMAN, ERIC S · 2019 to 2020
$443k
NICHD NIH HHS R01 HD103602NICHD NIH HHS R21 HD097403NIDDK NIH HHS R01 DK090242
6 · The paper itself

Abstract

GM3 synthase (GM3S) deficiency is a rare neurodevelopmental disorder caused by an inability to synthesize gangliosides, for which there is currently no treatment. Gangliosides are brain-enriched, plasma membrane glycosphingolipids with poorly understood biological functions related to cell adhesion, growth, and receptor-mediated signal transduction. Here, we investigated the effects of GM3S deficiency on metabolism and mitochondrial function in a mouse model. By indirect calorimetry, GM3S knockout mice exhibited increased whole-body respiration and an increased reliance upon carbohydrate as an energy source.

Indexed as

GlucoseSialyltransferasesAnimalsBrainEpilepsyG(M3) GangliosideMiceMice, KnockoutPyruvic AcidSeizuresGlucoseG(M3) Gangliosidehaematoside synthetasePyruvic AcidSialyltransferasesGangliosideGlucose metabolismGM3MitochondriaSeizure

Identifiers

PMID36335793
PMCPMC11061803
OpenAlexW4307896438

What OpenQuestion holds

Textmetadata
LicenceTDM
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.