ReviewNeuroRx : the journal of the American Society for Experimental NeuroTherapeutics2006
The congenital disorders of glycosylation: a multifaceted group of syndromes.
Review in NeuroRx : the journal of the American Society for Experimental NeuroTherapeutics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 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.
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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
29 citing papers in PubMed.
- Dhdds T206A and Dhdds K42E knock-in mouse models of retinitis pigmentosa 59 are phenotypically similar.Disease models & mechanisms · 2025Article
- Molecular Spies in Action: Genetically Encoded Fluorescent Biosensors Light up Cellular Signals.Chemical reviews · 2024Review
- The genetics of monogenic intestinal epithelial disorders.Human genetics · 2023Review
- Rgma-Induced Neo1 Proteolysis Promotes Neural Tube Morphogenesis.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2019Article
- Comparison of transferrin isoform analysis by capillary electrophoresis and HPLC for screening congenital disorders of glycosylation.Journal of clinical laboratory analysis · 2018Article
- ALG9-CDG: New clinical case and review of the literature.Molecular genetics and metabolism reports · 2017Article
- Serum transferrin carrying the xeno-tetrasaccharide NeuAc-Gal-GlcNAc2 is a biomarker of ALG1-CDG.Journal of inherited metabolic disease · 2016Article
- The degree of N-glycosylation affects the trafficking and cell surface expression levels of Kv1.4 potassium channels.The Journal of membrane biology · 2015Article
- Keratin 1 plays a critical role in golgi localization of core 2 N-acetylglucosaminyltransferase M via interaction with its cytoplasmic tail.The Journal of biological chemistry · 2015Article
- Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation.Molecular genetics and metabolism · 2013Article
- Understanding human glycosylation disorders: biochemistry leads the charge.The Journal of biological chemistry · 2013Review
- Heritable disorders in the metabolism of the dolichols: A bridge from sterol biosynthesis to molecular glycosylation.American journal of medical genetics. Part C, Seminars in medical genetics · 2012Review
- A sensitive green fluorescent protein biomarker of N-glycosylation site occupancy.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2012Article
- Neurology of inherited glycosylation disorders.The Lancet. Neurology · 2012Article
- Insights into complexity of congenital disorders of glycosylation.Biochemia medica · 2012Review
- Mislocalization of large ARF-GEFs as a potential mechanism for BFA resistance in COG-deficient cells.Experimental cell research · 2011Article
- Golgi glycosylation and human inherited diseases.Cold Spring Harbor perspectives in biology · 2011Review
- Fibrotic response in fibroblasts from congenital disorders of glycosylation.Journal of cellular and molecular medicine · 2011Article
- Employment of single-strand conformation polymorphism analysis in screening for α-1,3 glucosyltransferase gene mutation A333V in Croatian population.Journal of clinical laboratory analysis · 2011Article
- Metabolic manipulation of glycosylation disorders in humans and animal models.Seminars in cell & developmental biology · 2010Review
Corrections and comments
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Authors and funding
2 authors.
Funding
Abstract
The congenital disorders of glycosylation (CDG) are a rapidly expanding group of metabolic syndromes with a wide symptomatology and severity. They all stem from deficient N-glycosylation of proteins. To date the group contains 18 different subtypes: 12 of Type I (disrupted synthesis of the lipid-linked oligosaccharide precursor) and 6 of Type II (malfunctioning trimming/processing of the protein-bound oligosaccharide). Main features of CDG involve psychomotor retardation; ataxia; seizures; retinopathy; liver fibrosis; coagulopathies; failure to thrive; dysmorphic features, including inverted nipples and subcutaneous fat pads; and strabismus. No treatment currently is available for the vast majority of these syndromes (CDG-Ib and CDG-IIc are exceptions), even though attempts to synthesize drugs for the most common subtype, CDG-Ia, have been made. In this review we will discuss the individual syndromes, with focus on their neuronal involvement, available and possible treatments, and future directions.
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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.