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International Journal of Cardiology, ISSN 0167-5273, 03/2018, Volume 254, pp. 262 - 262
Journal Article
Nature Reviews Neurology, ISSN 1759-4758, 05/2016, Volume 12, Issue 5, pp. 294 - 309
The limb-girdle muscular dystrophies (LGMDs) are a diverse group of genetic neuromuscular conditions that usually manifest in the proximal muscles of the hip... 
DIAGNOSIS | MAPS | FUKUTIN GENE-MUTATIONS | DISEASE | CARDIOMYOPATHY | BETA-SARCOGLYCAN | CAVEOLIN-3 | MYOPATHY | DYSTROGLYCAN | IDENTIFICATION | CLINICAL NEUROLOGY | Usage | Translational research | Nucleotide sequencing | Muscular dystrophy | Risk factors | DNA sequencing
Journal Article
Journal Article
Journal Article
AMERICAN JOURNAL OF PATHOLOGY, ISSN 0002-9440, 09/2016, Volume 186, Issue 9, pp. 2429 - 2448
Overexpression of 84GALNT2 (previously GALGT2) inhibits the development of muscle pathology in mouse models of Duchenne muscular dystrophy, congenital muscular... 
CT GALNAC TRANSFERASE | ALPHA-DYSTROGLYCAN | MUTANT MICE | FUKUTIN-RELATED PROTEIN | GLYCOPROTEIN COMPLEX | DEFICIENT MICE | PATHOLOGY | NEUROMUSCULAR-JUNCTION | MONOCLONAL-ANTIBODIES | CARBOHYDRATE ANTIGEN | FUNCTIONAL GLYCOSYLATION
Journal Article
The Journal of biological chemistry, ISSN 0021-9258, 08/2018, Volume 293, Issue 31, pp. 12186 - 12198
α-Dystroglycan (α-DG) is a highly glycosylated cell-surface laminin receptor. Defects in the -mannosyl glycan of an α-DG with laminin-binding activity can... 
muscular dystrophy | protein glycosylation | glycosyltransferase | CDP-glycerol | glycosylation | enzyme catalysis | Glycobiology and Extracellular Matrices | dystroglycan | α-dystroglycanopathy | fukutin | glycobiology
Journal Article
Journal Article
Biochemical Journal, ISSN 0264-6021, 06/2011, Volume 436, Issue 2, pp. 447 - 455
Congenital muscular dystrophies have a broad spectrum of genotypes and phenotypes and there is a need for a better biochemical understanding of this group of... 
Congenitalmuscular dystrophy | Protein-O-mannose N-acetylglucosaminyltransferase 1 (POMGnT1) | Glycopeptide | Muscle-eye-brain disease | CONGENITAL MUSCULAR-DYSTROPHY | DEFECTIVE GLYCOSYLATION | FUKUTIN GENE-MUTATIONS | BIOCHEMISTRY & MOLECULAR BIOLOGY | RABBIT SKELETAL-MUSCLE | CLINICAL SPECTRUM | WALKER-WARBURG-SYNDROME | glycopeptide | LINKED OLIGOSACCHARIDES | N-ACETYLGLUCOSAMINYLTRANSFERASE-I | congenital muscular dystrophy | LAMININ-BINDING | muscle-eye-brain disease | protein-O-mannose N-acetylglucosaminyltransferase 1 (POMGnT1) | O-MANNOSYL GLYCANS | Humans | Child, Preschool | Dystroglycans - metabolism | N-Acetylglucosaminyltransferases - genetics | Substrate Specificity | Infant | Male | Walker-Warburg Syndrome - genetics | N-Acetylglucosaminyltransferases - chemistry | Young Adult | Walker-Warburg Syndrome - metabolism | Dystroglycans - chemistry | Female | Glycosyltransferases - genetics | Child | Peptide Fragments - genetics | Peptide Fragments - metabolism | Glycosyltransferases - chemistry | Mutation - genetics | N-Acetylglucosaminyltransferases - metabolism | Point Mutation | Glycosyltransferases - metabolism | Peptide Fragments - chemistry | Adolescent | Dystroglycans - genetics | Dystroglycan | Enzymes | N-Acetylglucosamine | Glycosyltransferase | N-Acetylglucosinyldiphosphodolichol N-acetylglucosaminyltransferase | Homology | Glycoproteins | Glycosylation | Mannose | Muscular dystrophy | Mimicry | Catalysis | Mutation | Protein structure | Genotypes | POMGnT1, protein-O-mannose N-acetylglucosaminyltransferase 1 | CMD, congenital muscular dystrophy | IPTG, isopropyl β-D-thiogalactopyranoside | β-DG, β-dystroglycan | WWS, Walker–Warburg syndrome | LARGE, like-acetylglucosaminyltransferase gene | LGMD, limb-girdle muscular dystrophy | α-DG, α-dystroglycan | Fmoc, fluoren-9-ylmethoxycarbonyl | CK, creatine kinase | FKTN, fukutin gene | LB, Luria–Bertani | SPSS, solid-phase peptide synthesis | rPOMGnT1, recombinant protein-O-mannose N-acetylglucosaminyltransferase 1 | MEB, muscle-eye-brain disease | muscleeye-brain disease | FKRP, fukutin-related protein gene | GnTI, N-acetylglucosaminyltransferase I | MALDI–TOF, matrix-assisted laser-desorption ionization–time-of-flight | POMT1, protein-O-mannosyltransferase 1 | POMT2, protein-O-mannosyltransferase 2
Journal Article
Nature Communications, ISSN 2041-1723, 05/2016, Volume 7, Issue 1, p. 11534
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 2018, Volume 293, Issue 31, pp. 12186 - 12198
alpha-Dystroglycan (-DG) is a highly glycosylated cell-surface laminin receptor. Defects in the O-mannosyl glycan of an -DG with laminin-binding activity can... 
ALPHA-DYSTROGLYCAN | FKRP | dystroglycanopathy | protein glycosylation | BIOCHEMISTRY & MOLECULAR BIOLOGY | MUSCULAR-DYSTROPHY | glycosylation | enzyme catalysis | dystroglycan | muscular dystrophy | glycosyltransferase | CDP-glycerol | REQUIRES | RIBITOL-PHOSPHATE | ISPD | fukutin | glycobiology | MAMMALS
Journal Article
Brain, ISSN 0006-8950, 10/2007, Volume 130, Issue 10, pp. 2725 - 2735
Journal Article