ReviewNature clinical practice. Neurology2006
Mechanisms of disease: congenital muscular dystrophies-glycosylation takes center stage.
Review in Nature clinical practice. Neurology, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 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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Who cites it
28 citing papers in PubMed, 44 citations in OpenAlex.
- The role of protein glycosylation in muscle diseases.Molecular biology reports · 2022Review
- Astrocytic laminin-211 drives disseminated breast tumor cell dormancy in brain.Nature cancer · 2022Article
- NAD+ improves neuromuscular development in a zebrafish model of FKRP-associated dystroglycanopathy.Skeletal muscle · 2019Review
- 22q12.3 microduplication overlapping theBiomedical reports · 2017Article
- Ultrasound diagnosis of bilateral cataracts in a fetus with possible cerebro-ocular congential muscular dystrophy during the routine second trimester anomaly scan.Ultrasound (Leeds, England) · 2015Article
- In vitro Differentiation of Functional Human Skeletal Myotubes in a Defined System.Biomaterials science · 2014Article
- Article
- Adeno-associated viral-mediated LARGE gene therapy rescues the muscular dystrophic phenotype in mouse models of dystroglycanopathy.Human gene therapy · 2013Article
- A Method to Produce and Purify Full-Length Recombinant Alpha Dystroglycan: Analysis of N- and O-Linked Monosaccharide Composition in CHO Cells with or without LARGE Overexpression.PLoS currents · 2013Article
- Implications for the mammalian sialidases in the physiopathology of skeletal muscle.Skeletal muscle · 2012Article
- Role of extracellular matrix proteins and their receptors in the development of the vertebrate neuromuscular junction.Developmental neurobiology · 2011Review
- Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene.European journal of human genetics : EJHG · 2011Article
- Article
- Transgenic overexpression of LARGE induces α-dystroglycan hyperglycosylation in skeletal and cardiac muscle.PloS one · 2010Article
- Protein O-mannosylation in animal development and physiology: from human disorders to Drosophila phenotypes.Seminars in cell & developmental biology · 2010Review
- A human-specific deletion in mouse Cmah increases disease severity in the mdx model of Duchenne muscular dystrophy.Science translational medicine · 2010Article
- Dystroglycan and mitochondrial ribosomal protein L34 regulate differentiation in the Drosophila eye.PloS one · 2010Article
- Drosophila Dystroglycan is a target of O-mannosyltransferase activity of two protein O-mannosyltransferases, Rotated Abdomen and Twisted.Glycobiology · 2010Article
- Mice lacking dystrophin or alpha sarcoglycan spontaneously develop embryonal rhabdomyosarcoma with cancer-associated p53 mutations and alternatively spliced or mutant Mdm2 transcripts.The American journal of pathology · 2010Article
- A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity.Brain pathology (Zurich, Switzerland) · 2009Article
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1 author at 1 institution in 1 country.
Funding
Abstract
Recent studies have defined a group of muscular dystrophies, now termed the dystroglycanopathies, as novel disorders of glycosylation. These conditions include Walker-Warburg syndrome, muscle-eye-brain disease, Fukuyama-type congenital muscular dystrophy, congenital muscular dystrophy types 1C and 1D, and limb-girdle muscular dystrophy type 2I. Although clinical findings can be highly variable, dystroglycanopathies are all characterized by cortical malformations and ocular defects at the more severe end of the clinical spectrum, in addition to muscular dystrophy. All of these disorders are defined by the underglycosylation of alpha-dystroglycan. Defective glycosylation of dystroglycan severs the link between this important cell adhesion molecule and the extracellular matrix, thereby contributing to cellular pathology. Recent experiments indicate that glycosylation might not only define forms of muscular dystrophy but also provide an avenue to the development of therapies for these disorders.
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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.