Evidence map›Paper›PMID 20363348›Full record

ReviewSeminars in cell & developmental biology2010

Metabolic manipulation of glycosylation disorders in humans and animal models.

Hudson H Freeze, Vandana Sharma

Open access · greenAbstract readReview
In one paragraph

Review in Seminars in cell & developmental biology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.

0numbers the graph read from it
0cells of the map it votes in
22citing papers in PubMed
2.0field-weighted citation impact, top 14% 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

22 citing papers in PubMed, 44 citations in OpenAlex.

  1. Metabolome Wide Mendelian Randomization Assessing the Causal Relationship Between Serum Metabolites, Cerebrospinal Metabolites, and Aneurysmal Subarachnoid Hemorrhage.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026
    Article
  2. Review
  3. Review
  4. A roadmap for translational cancer glycoimmunology at single cell resolution.Journal of experimental & clinical cancer research : CR · 2022
    Review
  5. Review
  6. Review
  7. Article
  8. Article
  9. The role of post-translational modifications in hearing and deafness.Cellular and molecular life sciences : CMLS · 2016
    Review
  10. Mannose metabolism: more than meets the eye.Biochemical and biophysical research communications · 2014
    Review
  11. Article
  12. Review
  13. Article
  14. Review
  15. New horizons for congenital myasthenic syndromes.Annals of the New York Academy of Sciences · 2012
    Review
  16. Article
  17. Review
  18. Article
  19. Article
  20. Mouse models for congenital disorders of glycosylation.Journal of inherited metabolic disease · 2011
    Review
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

2 authors at 1 institution in 1 country.

Hudson H FreezeSanford-Burnham Medical Research Institute, La Jolla, CA 92037, USA. hudson@burnham.org
Vandana Sharma
Sanford Burnham Prebys Medical Discovery Institute · US

Funding

Carbohydrate Deficient Glycoprotein Syndromes: Models and TherapyR01DK055615 · NIDDK · SANFORD BURNHAM PREBYS MEDICAL DISCOVERY INSTITUTE · PI FREEZE, HUDSON H. · 1999 to 2013
$4.4M
Testing Substrate-Flux Therapies for Glycosylation Disorders using ZebrafishRC1HD064159 · NICHD · SANFORD BURNHAM PREBYS MEDICAL DISCOVERY INSTITUTE · PI FREEZE, HUDSON H., LEHRMAN, MARK · 2009 to 2010
$1000k
NICHD NIH HHS 1RC1HD064159-01NIDDK NIH HHS R01 DK055615NIDDK NIH HHS R01 DK55615
6 · The paper itself

Abstract

In the last decade, over 40 inherited human glycosylation disorders were identified. Most patients have hypomorphic, rather than null alleles. The phenotypic spectrum is broad and most of the disorders affect embryonic and early post-natal development; a few appear in adult life. Some deficiencies can be treated with simple dietary sugar (monosaccharide) supplements. Here we focus on four glycosylation disorders that have been treated with supplements in patients or in model systems, primarily the mouse. Surprisingly, small differences in the amount of exogenous sugar have a major impact on the diseases in specific cells or organs while others are unaffected. The underlying mechanisms are mostly unknown, but changes in the contributions of the de novo, salvage and dietary pathways may contribute to the beneficial outcome. Clearly, the metabolic chart is not flat; all arrows are not equally robust at all points of time and space. This metabolic perspective may help explain some of these observations and guide the development of other vertebrate models of glycosylation disorders that can respond to dietary manipulation.

Indexed as

AnimalsDisease Models, AnimalGlycosylationHumansMetabolism, Inborn ErrorsMonosaccharidesPhenotypePolysaccharidesMonosaccharidesPolysaccharides

Identifiers

PMID20363348
PMCPMC2917643
OpenAlexW1988142527

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.