ReviewThe Journal of biological chemistry2013
Understanding human glycosylation disorders: biochemistry leads the charge.
Review in The Journal of biological chemistry, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 107 papers.
What it found
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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.
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.
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Who cites it
107 citing papers in PubMed.
- MALDI Matrix: Origins, Innovations, and Frontiers.Chemical reviews · 2026Review
- High-density lectin microarray uncovers stage-specific plasma glycoprofiling signatures for non-muscle-invasive and muscle-invasive bladder cancer.International urology and nephrology · 2026Article
- A novel glycogene-related signature for prognostic prediction and immune microenvironment assessment in kidney renal clear cell carcinoma.Annals of medicine · 2025Article
- Structural mechanisms of allosteric regulation in the human cis-prenyltransferase complex.Nature communications · 2025Article
- Novel PGM1 Mutation in Congenital Disorder of Glycosylation Type 1T: A Case Report of Liver Failure and Myopathy.The American journal of case reports · 2025Article
- Disturbances of endoplasmic reticulum proteostasis in neurodevelopmental disorders.Biochemical Society transactions · 2025Review
- Natural SEL1L variants rescue a model of NGLY1 deficiency and modify ERAD function and proteasome sensitivity.PLoS genetics · 2025Article
- Sweet Aging: Glycocalyx and Galectins in CNS Aging and Neurodegenerative Disorders.International journal of molecular sciences · 2025Review
- Sensitive Fluorescence Quantitation and Efficient Free Radical Characterization ofAnalytical chemistry · 2025Article
- Mechanisms of uropathogenicScience advances · 2025Article
- NGLY1-CDDG: report of two cases from India and brief review of literature.Journal of genetics · 2025Review
- Molecular characterization of Rft1, an ER membrane protein associated with congenital disorder of glycosylation RFT1-CDG.bioRxiv : the preprint server for biology · 2024Article
- Boltzmann Model Predicts Glycan Structures from Lectin Binding.Analytical chemistry · 2024Article
- A Boltzmann model predicts glycan structures from lectin binding.bioRxiv : the preprint server for biology · 2024Article
- NGLY1 mutations cause protein aggregation in human neurons.Cell reports · 2023Article
- Different glycosylation profiles of cystatin F alter the cytotoxic potential of natural killer cells.Cellular and molecular life sciences : CMLS · 2023Article
- Mechanistic Study into Free Radical-Activated Glycan Dissociations through Isotope-Labeled Cellobioses.Analytical chemistry · 2023Article
- A recurrent homozygous missense DPM3 variant leads to muscle and brain disease.Clinical genetics · 2022Article
- High-Throughput Glycomic Methods.Chemical reviews · 2022Review
- Serum N-glycomic profiling may provide potential signatures for surveillance of COVID-19.Glycobiology · 2022Article
47 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author.
Funding
Abstract
Nearly 70 inherited human glycosylation disorders span a breathtaking clinical spectrum, impacting nearly every organ system and launching a family-driven diagnostic odyssey. Advances in genetics, especially next generation sequencing, propelled discovery of many glycosylation disorders in single and multiple pathways. Interpretation of whole exome sequencing results, insights into pathological mechanisms, and possible therapies will hinge on biochemical analysis of patient-derived materials and animal models. Biochemical diagnostic markers and readouts offer a physiological context to confirm candidate genes. Recent discoveries suggest novel perspectives for textbook biochemistry and novel research opportunities. Basic science and patients are the immediate beneficiaries of this bidirectional collaboration.
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Registered trials
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.