ReviewActa myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology2007
Muscular dystrophies due to defective glycosylation of dystroglycan.
Review in Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
21 citing papers in PubMed, 52 citations in OpenAlex.
- Quantitative Measurement of Glycosylated ⍺-Dystroglycan as a Biomarker for Disease Severity in Limb-Girdle Muscular Dystrophy Type 2I/R9.Neurology. Genetics · 2026Article
- Characterization and Engineered U1 snRNA Rescue of Splicing Variants in a Turkish Neurodevelopmental Disease Cohort.Human mutation · 2024Article
- An adhesion signaling axis involving Dystroglycan, β1-Integrin, and Cas adaptor proteins regulates the establishment of the cortical glial scaffold.PLoS biology · 2023Article
- Selenium and Selenoproteins in Health.Biomolecules · 2023Review
- Extracellular matrix: Brick and mortar in the skeletal muscle stem cell niche.Frontiers in cell and developmental biology · 2022Review
- A universal gene correction approach for FKRP-associated dystroglycanopathies to enable autologous cell therapy.Cell reports · 2021Article
- The Close Relationship between the Golgi Trafficking Machinery and Protein Glycosylation.Cells · 2020Review
- Multifaceted antibodies development against synthetic α-dystroglycan mucin glycopeptide as promising tools for dystroglycanopathies diagnostic.Glycoconjugate journal · 2020Article
- Dystroglycan Mediates Clustering of Essential GABAergic Components in Cerebellar Purkinje Cells.Frontiers in molecular neuroscience · 2020Article
- Expression in retinal neurons of fukutin and FKRP, the protein products of two dystroglycanopathy-causative genes.Molecular vision · 2018Article
- Arthrogryposis: an update on clinical aspects, etiology, and treatment strategies.Archives of medical science : AMS · 2016Article
- Congenital basis of posterior fossa anomalies.The neuroradiology journal · 2015Review
- Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency.Neuromuscular disorders : NMD · 2012Article
- Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease.Journal of the neurological sciences · 2012Article
- Fer kinase regulates cell migration through α-dystroglycan glycosylation.Molecular biology of the cell · 2012Article
- Fukutin-related protein alters the deposition of laminin in the eye and brain.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2011Article
- From proteins to genes: immunoanalysis in the diagnosis of muscular dystrophies.Skeletal muscle · 2011Article
- Congenital muscular dystrophies: toward molecular therapeutic interventions.Current neurology and neuroscience reports · 2010Review
- Muscle-Eye-Brain disease.Journal of clinical neuromuscular disease · 2010Article
- Cardiomyopathy in the congenital disorders of glycosylation (CDG): a case of late presentation and literature review.Journal of inherited metabolic disease · 2009Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
15 authors at 1 institution in 1 country.
Funding
Abstract
Muscular dystrophies are a clinically and genetically heterogeneous group of disorders. Until recently most of the proteins associated with muscular dystrophies were believed to be proteins of the sarcolemma associated with reinforcing the plasma membrane or in facilitating its re-sealing following injury. In the last few years a novel and frequent pathogenic mechanism has been identified that involves the abnormal glycosylation of alpha-dystroglycan (ADG). This peripheral membrane protein undergoes complex and crucial glycosylation steps that enable it to interact with LG domain containing extracellular matrix proteins such as laminins, agrin and perlecan. Mutations in six genes (POMT1, POMT2, POMGnT1, fukutin, FKRP and LARGE) have been identified in patients with reduced glycosylation of ADG. While initially a clear correlation between gene defect and phenotype was observed for each of these 6 genes (for example, Walker Warburg syndrome was associated with mutations in POMT1 and POMT2, Fukuyama congenital muscular dystrophy associated with fukutin mutations, and Muscle Eye Brain disease associated with POMGnT1 mutations), we have recently demonstrated that allelic mutations in each of these 6 genes can result in a much wider spectrum of clinical conditions. Thus, the crucial aspect in determining the phenotypic severity is not which gene is primarily mutated, but how severely the mutation affects the glycosylation of ADG. Systematic mutation analysis of these 6 glycosyltransferases in patients with a dystroglycan glycosylation disorder identifies mutations in approximately 65% suggesting that more genes have yet to be identified.
Indexed as
Identifiers
18646561PMC2949305W1648904972What 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.