Evidence map›Paper›PMID 37175952›Full record

ArticleInternational journal of molecular sciences2023

In Vitro Skeletal Muscle Model of PGM1 Deficiency Reveals Altered Energy Homeostasis.

Federica Conte, Angel Ashikov, Rachel Mijdam, Eline G P van de Ven, Monique van Scherpenzeel, Raisa Veizaj, Seyed P Mahalleh-Yousefi, Merel A Post, Karin Huijben, Daan M Panneman and 7 more

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 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
4.1field-weighted citation impact, top 6% 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

9 citing papers in PubMed, 13 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. 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 at 1 institution in 2 countries.

Federica ConteDepartment of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.ORCID 0000-0003-1481-7401
Angel AshikovDepartment of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.ORCID 0000-0001-9679-7955
Rachel MijdamDepartment of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.ORCID 0000-0003-0311-6482
Eline G P van de VenDepartment of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
Monique van ScherpenzeelGlycoMScan B.V., 5349 AB Oss, The Netherlands.
Raisa VeizajDepartment of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
Seyed P Mahalleh-YousefiDepartment of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
Merel A PostDepartment of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.ORCID 0000-0001-7433-9048
Karin HuijbenTranslational Metabolic Laboratory, Department of Laboratory Medicine, Radboud Institute for Molecular Life Sciences (RIMLS), Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
Daan M PannemanRadboud Center for Mitochondrial Medicine (RCMM), Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
Richard J T RodenburgTranslational Metabolic Laboratory, Department of Laboratory Medicine, Radboud Institute for Molecular Life Sciences (RIMLS), Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.ORCID 0000-0001-5227-3527
Nicol C VoermansDepartment of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
Alejandro GarantoDepartment of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.ORCID 0000-0001-5721-1560
Werner J H KoopmanRadboud Center for Mitochondrial Medicine (RCMM), Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
Hans J C T WesselsTranslational Metabolic Laboratory, Department of Laboratory Medicine, Radboud Institute for Molecular Life Sciences (RIMLS), Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
Marek J NogaTranslational Metabolic Laboratory, Department of Laboratory Medicine, Radboud Institute for Molecular Life Sciences (RIMLS), Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.ORCID 0000-0001-8352-611X
Dirk J LefeberDepartment of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
Radboud University Nijmegen · NL

Funding

Netherlands Organization for Scientific Research (NWO) VIDI Grant 91713359Prinses Beatrix Spierfonds Grant W.OR17-15Stichting Stofwisselkracht Grant no. 2019-2766-001UMD Catalyst grant UMD-CG-2020-006
6 · The paper itself

Abstract

Phosphoglucomutase 1 (PGM1) is a key enzyme for the regulation of energy metabolism from glycogen and glycolysis, as it catalyzes the interconversion of glucose 1-phosphate and glucose 6-phosphate. PGM1 deficiency is an autosomal recessive disorder characterized by a highly heterogenous clinical spectrum, including hypoglycemia, cleft palate, liver dysfunction, growth delay, exercise intolerance, and dilated cardiomyopathy. Abnormal protein glycosylation has been observed in this disease. Oral supplementation with D-galactose efficiently restores protein glycosylation by replenishing the lacking pool of UDP-galactose, and rescues some symptoms, such as hypoglycemia, hepatopathy, and growth delay. However, D-galactose effects on skeletal muscle and heart symptoms remain unclear. In this study, we established an in vitro muscle model for PGM1 deficiency to investigate the role of PGM1 and the effect of D-galactose on nucleotide sugars and energy metabolism. Genome-editing of C2C12 myoblasts via CRISPR/Cas9 resulted in

Indexed as

HypoglycemiaPhosphoglucomutaseAnimalsGalactoseGlucoseGlycogen Storage DiseaseHomeostasisMiceMuscle Fibers, SkeletalMuscle, SkeletalNucleotidesPhosphatesGalactoseGlucoseNucleotidesPhosphatesPhosphoglucomutasein vitro muscle modelmuscle energy homeostasismuscle metabolic plasticityPGM1 congenital disorder of glycosylationPGM1 deficiencyphosphoglucomutase 1

Identifiers

PMID37175952
PMCPMC10179458
OpenAlexW4375841966

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.