Evidence map›Paper›PMID 37685964›Full record

ArticleInternational journal of molecular sciences2023

Glutaryl-CoA Dehydrogenase Misfolding in Glutaric Acidemia Type 1.

Madalena Barroso, Marcus Gertzen, Alexandra F Puchwein-Schwepcke, Heike Preisler, Andreas Sturm, Dunja D Reiss, Marta K Danecka, Ania C Muntau, Søren W Gersting

Open access · goldAbstract read
In one paragraph

Article in International journal of molecular sciences, 2023. 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
1.0field-weighted citation impact, top 25% 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

3 citing papers in PubMed, 5 citations in OpenAlex.

  1. Article
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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

9 authors at 5 institutions in 2 countries.

Madalena BarrosoUniversity Children's Research, UCR@Kinder-UKE, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.ORCID 0000-0002-1600-890X
Marcus GertzenDepartment of Molecular Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University, 80337 Munich, Germany.
Alexandra F Puchwein-SchwepckeDepartment of Molecular Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University, 80337 Munich, Germany.ORCID 0000-0002-2507-2196
Heike PreislerDepartment of Molecular Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University, 80337 Munich, Germany.
Andreas SturmDepartment of Molecular Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University, 80337 Munich, Germany.
Dunja D ReissDepartment of Molecular Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University, 80337 Munich, Germany.
Marta K DaneckaUniversity Children's Research, UCR@Kinder-UKE, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
Ania C MuntauUniversity Children's Research, UCR@Kinder-UKE, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.ORCID 0000-0002-2900-8378
Søren W GerstingUniversity Children's Research, UCR@Kinder-UKE, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.ORCID 0000-0001-7482-4748
Universität Hamburg · DELudwig-Maximilians-Universität München · DELMU Klinikum · DEUniversity of Augsburg · DEUniversity of Basel · CH

Funding

Else Kröner Fresenius Clinical Research School - Rare immune system diseases to AFP-SFunding program for research and teaching (FöFoLe 543 Program) from the medical school of Ludwig-Maximilians-University, 80337 Munich, Germany 45/2010; 797/2012
6 · The paper itself

Abstract

Glutaric acidemia type 1 (GA1) is a neurotoxic metabolic disorder due to glutaryl-CoA dehydrogenase (GCDH) deficiency. The high number of missense variants associated with the disease and their impact on GCDH activity suggest that disturbed protein conformation can affect the biochemical phenotype. We aimed to elucidate the molecular basis of protein loss of function in GA1 by performing a parallel analysis in a large panel of

Indexed as

Amino Acid Metabolism, Inborn ErrorsBrain Diseases, MetabolicGlutaryl-CoA DehydrogenaseEnzyme StabilityHumansMutation, MissenseProtein DomainsProtein FoldingSolubilityGlutaryl-CoA DehydrogenaseGA1GCDHglutaric aciduriaorganic aciduriaprotein folding

Identifiers

PMID37685964
PMCPMC10487539
OpenAlexW4386119832

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.