ReviewGlycoconjugate journal2004
The role of defective glycosylation in congenital muscular dystrophy.
Review in Glycoconjugate journal, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Consensus statement on standard of care for congenital muscular dystrophies.Journal of child neurology · 2010Guideline
- Article
- Lectin binding to pectoral fin of neonate little skates reared under ambient and projected-end-of-century temperature regimes.Journal of morphology · 2024Article
- Dystroglycan on radial glia end feet is required for pial basement membrane integrity and columnar organization of the developing cerebral cortex.Journal of neuropathology and experimental neurology · 2012Article
- Comparison of the substrate specificities and catalytic properties of the sister N-acetylglucosaminyltransferases, GnT-V and GnT-Vb (IX).Glycobiology · 2010Article
- Article
- Glycosylation diseases: quo vadis?Biochimica et biophysica acta · 2009Review
- Muscle protein alterations in LGMD2I patients with different mutations in the Fukutin-related protein gene.The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society · 2008Article
- Congenital disorders of glycosylation--a challenging group of IEMs.Journal of inherited metabolic disease · 2008Review
- Congenital muscular dystrophies involving the O-mannose pathway.Current molecular medicine · 2007Review
- Mechanisms of disease: congenital muscular dystrophies-glycosylation takes center stage.Nature clinical practice. Neurology · 2006Review
- POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.Journal of medical genetics · 2005Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The dystrophin glycoprotein complex (DGC) is an assembly of proteins spanning the sarcolemma of skeletal muscle cells. Defects in the DGC appear to play critical roles in several muscular dystrophies due to disruption of basement membrane organization. O -mannosyl oligosaccharides on alpha-dystroglycan, a major extracellular component of the DGC, are essential for normal binding of alpha-dystroglycan to ligands (such as laminin) in the extracellular matrix and subsequent signal transmission to actin in the cytoskeleton of the muscle cell. Muscle-Eye-Brain disease (MEB) and Walker-Warburg Syndrome (WWS) have mutations in genes encoding glycosyltransferases needed for O -mannosyl oligosaccharide synthesis. Myodystrophic myd mice and humans with Fukuyama Congenital Muscular Dystrophy (FCMD), congenital muscular dystrophy due to defective fukutin-related protein (FKRP) and MDC1D have mutations in putative glycosyltransferases. These human congenital muscular dystrophies and the myd mouse are associated with defective glycosylation of alpha-dystroglycan. It is expected other congenital muscular dystrophies will prove to have mutations in genes involved in glycosylation.
Indexed as
Identifiers
15229394What OpenQuestion holds
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.