Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies

Nature

Volumn 418, Issue 6896, 2002, Pages 417-422

  Michele, Daniel E ^a   Barresi, Rita ^a   Kanagawa, Motoi ^a   Salto, Fumiaki ^a   Cohn, Ronald D ^a   Satz, Jakob S ^a   Dollar, James ^b   Nishino, Ichizo ^c   Kelley, Richard I ^d   Somer, Hannu ^e   Straub, Volker ^a   Mathews, Katherine D ^a   Moore, Steven A ^a   Campbell, Kevin P ^a  

^a UNIVERSITY OF IOWA   (United States)

^b ALBANY MEDICAL COLLEGE   (United States)

^c NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^d JOHNS HOPKINS UNIVERSITY   (United States)

^e HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

BIOSYNTHESIS; BRAIN; DISEASES; ENZYMES; GENES; ORGANIC COMPOUNDS;

MUSCULAR DYSTROPHIES;

MUSCLE;

AGRIN; DYSTROGLYCAN; FUKUTIN; GLYCOPROTEIN; GLYCOSYLTRANSFERASE; LAMININ; LIGAND; NEUREXIN; SCLEROPROTEIN; UNCLASSIFIED DRUG;

MEDICINE;

ADOLESCENT; ARTICLE; BIOSYNTHESIS; BRAIN MALFORMATION; CASE REPORT; CHILD; DISEASE ASSOCIATION; FEMALE; GENE; GENE FUNCTION; GLYCOSYLATION; HUMAN; LIGAND BINDING; MALE; MAMMAL; MUSCLE FIBER MEMBRANE; MUSCULAR DYSTROPHY; NONHUMAN; PRIORITY JOURNAL; PROTEIN PROCESSING; SEQUENCE HOMOLOGY;

ANIMALS; BRAIN; CELL MOVEMENT; CYTOSKELETAL PROTEINS; DYSTROGLYCANS; EXTRACELLULAR MATRIX PROTEINS; EYE; FEMALE; GENE DELETION; GLYCOSYLATION; HUMANS; LIGANDS; MALE; MEMBRANE GLYCOPROTEINS; MICE; MICE, MUTANT STRAINS; MUSCLES; MUSCULAR DYSTROPHIES; NEURONS; PROTEIN BINDING; PROTEIN PROCESSING, POST-TRANSLATIONAL;

MAMMALIA;

EID: 0037173670     PISSN: 00280836     EISSN: None     Source Type: Journal    
DOI: 10.1038/nature00837     Document Type: Article

References (29)

1. Congenital muscular dystrophy: An expanding clinical syndrome
2. The Fukuyama congenital muscular dystrophy story
3. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy
4. Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT 1
5. Dystroglycan inside and out
6. Membrane organization of the dystrophin-glycoprotein complex
7. A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin
8. Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix
9. Human dystroglycan: Skeletal muscle cDNA, genomic structure, origin of tissue specific isoforms and chromosomal localization
10. Dystrophin: The protein product of the Duchenne muscular dystrophy locus
11. Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy
12. β-sarcoglycan: Characterization and role in limb-girdle muscular dystrophy linked to 4q12
13. Mutations in the dystrophin-associated protein γ-sarcoglycan in chromosome 13 muscular dystrophy
14. Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the δ-sarcoglycan gene
15. Dystroglycan is essential for early embryonic development: Disruption of Reichert's membrane in Dag1-null mice
16. A role for dystroglycan in basement membrane assembly
17. Dystroglycan-α, a dystrophinassociated glycoprotein, is a functional agrin receptor
18. A role for dystrophin-associated glycoproteins and utrophin in agrin-induced AChR clustering
19. A stoichiometric complex of neurexins and dystroglycan in brain
20. Mutant glycosyltransferase and altered glycosylation of α-dystroglycan in the myodystrophy mouse
21. Muscle-eye-brain disease: A neuropathological study
22. Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy
23. Structures of sialylated O-linked oligosaccharides of bovine peripheral nerve αdystroglycan. The role of a novel O-mannosyl-type oligosaccharide in the binding of α-dystroglycan with laminin
24. Molecular analysis of the interaction of LCMV with its cellular receptor α-dystroglycan
25. Congenital lymphocytic choriomeningitis virus infection: Decade of rediscovery
26. Characterization of δ-sarcoglycan, a novel component of the oligomeric sarcoglycan complex involved in limb-girdle muscular dystrophy
27. Mapping of domains in human laminin using monoclonal antibodies: Localization of the neurite-promoting site
28. Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy
29. Mild congenital muscular dystrophy in two patients with an internally deleted laminin α2-chain