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The New England Journal of Medicine, ISSN 0028-4793, 03/2011, Volume 364, Issue 10, pp. 939 - 946
A dystroglycan mutation was identified in a patient with limb-girdle muscular dystrophy and cognitive dysfunction. A mouse model with this mutation reproduced... 
Phenotype | Animals | Muscular Dystrophies, Limb-Girdle - genetics | Pedigree | Humans | Dystroglycans - genetics | Female | Mice | Mutation, Missense | Sequence Analysis, DNA | Disease Models, Animal
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 12/2014, Volume 111, Issue 49, pp. 17570 - 17575
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 12/2014, Volume 111, Issue 49, p. 17570
  Misfolded proteins are an emerging hallmark of cardiac diseases. Although some misfolded proteins, such as desmin, are associated with mutations in the genes... 
Genotype & phenotype | Enzymes | Protein folding | Cardiovascular disease | Cardiomyocytes | Mutation
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 10/2011, Volume 108, Issue 42, pp. 17426 - 17431
α-dystroglycan is a highly O-glycosylated extracellular matrix receptor that is required for anchoring of the basement membrane to the cell surface and for the... 
Proteins | Polysaccharides | Receptors | Schwann cells | Viruses | Amino acids | Muscular dystrophies | Infections | Dystroglycans | Arenavirus | Posttranslational modification | Lassa fever virus | Phosphorylation of O-mannosyl glycan | Muscular dystrophy | Glycoprotein-ligand interaction | ALPHA-DYSTROGLYCAN | posttranslational modification | MULTIDISCIPLINARY SCIENCES | CELLULAR RECEPTOR | GLYCOSYLTRANSFERASE | CONGENITAL MUSCULAR-DYSTROPHIES | GLYCOSYLATION | LYMPHOCYTIC CHORIOMENINGITIS VIRUS | FAMILY | muscular dystrophy | DISRUPTION | INTEGRITY | glycoprotein-ligand interaction | GLYCOPROTEIN COMPLEX | phosphorylation of O-mannosyl glycan | Phosphorylation | Threonine - chemistry | Humans | Dystroglycans - metabolism | Molecular Sequence Data | Virus Internalization | Myoblasts - metabolism | Arenaviridae Infections - etiology | Lymphocytic choriomeningitis virus - pathogenicity | HEK293 Cells | Dystroglycans - chemistry | Binding Sites | Recombinant Proteins - metabolism | Amino Acid Sequence | Cell Line | Recombinant Proteins - chemistry | Glycosylation | Recombinant Proteins - genetics | N-Acetylglucosaminyltransferases - metabolism | Animals | Mutagenesis | Models, Biological | Arenaviridae Infections - metabolism | Protein Binding | Dystroglycans - genetics | Mice | Protein Processing, Post-Translational | Laminin - metabolism | Laminin | Arenavirus diseases | Transferases | Genetic aspects | Research | Properties | Protein binding | Biological Sciences | glycoprotein–ligand interaction
Journal Article
Journal of Neuropathology & Experimental Neurology, ISSN 0022-3069, 12/2012, Volume 71, Issue 12, pp. 1047 - 1063
Journal Article
Journal of Neuroscience, ISSN 0270-6474, 10/2010, Volume 30, Issue 43, pp. 14560 - 14572
Journal Article
European Journal of Neuroscience, ISSN 0953-816X, 06/2011, Volume 33, Issue 12, pp. 2179 - 2186
Journal Article
Nature Medicine, ISSN 1078-8956, 07/2004, Volume 10, Issue 7, pp. 696 - 703
Journal Article
Journal Article
Journal of neuropathology and experimental neurology, ISSN 0022-3069, 12/2012, Volume 71, Issue 12, pp. 1047 - 1063
Interactions between the embryonic pial basement membrane (PBM) and radial glia (RG) are essential for morphogenesis of the cerebral cortex, as disrupted... 
Dystroglycan | leptomeningeal heterotopia | cerebral cortex | lissencephaly | cobblestone malformation
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 10/2011, Volume 108, Issue 42, p. 17426
α-dystroglycan is a highly O-glycosylated extracellular matrix receptor that is required for anchoring of the basement membrane to the cell surface and for the... 
Proteins | Ligands | Viruses | Mutation | Binding sites
Journal Article
Journal of Neuropathology & Experimental Neurology, ISSN 0022-3069, 12/2012, Volume 71, Issue 12, pp. 1047 - 1047
Interactions between the embryonic pial basement membrane (PBM) and radial glia (RG) are essential for morphogenesis of the cerebral cortex because disrupted... 
Journal Article
European Journal of Neuroscience, ISSN 0953-816X, 06/2011, Volume 33, Issue 12, pp. 2179 - 2186
Journal Article
Journal of Neuroscience, ISSN 0270-6474, 10/2009, Volume 29, Issue 42, pp. 13136 - 13146
Journal Article