Experts and Doctors on dystroglycans in Iowa City, Iowa, United States


Locale: Iowa City, Iowa, United States
Topic: dystroglycans

Top Publications

  1. Michele D, Campbell K. Dystrophin-glycoprotein complex: post-translational processing and dystroglycan function. J Biol Chem. 2003;278:15457-60 pubmed
  2. Durbeej M, Sawatzki S, Barresi R, Schmainda K, Allamand V, Michele D, et al. Gene transfer establishes primacy of striated vs. smooth muscle sarcoglycan complex in limb-girdle muscular dystrophy. Proc Natl Acad Sci U S A. 2003;100:8910-5 pubmed
    ..Thus, virus-mediated gene transfer of sarcoglycans to skeletal muscle in combination with pharmacological prevention of cardiomyopathy constitute promising therapeutic strategies for limb-girdle muscular dystrophies. ..
  3. Ervasti J, Campbell K. A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin. J Cell Biol. 1993;122:809-23 pubmed
    ..Furthermore, our results suggest that dystrophin and dystroglycan may play substantially different functional roles in nonmuscle tissues. ..
  4. Matsumura K, Tome F, Collin H, Leturcq F, Jeanpierre M, Kaplan J, et al. Expression of dystrophin-associated proteins in dystrophin-positive muscle fibers (revertants) in Duchenne muscular dystrophy. Neuromuscul Disord. 1994;4:115-20 pubmed
    ..Our results suggest that the entire dystrophin-glycoprotein complex is restored in revertants and, thus, the linkage between the subsarcolemmal cytoskeleton and the extracellular matrix is restored in these muscle fibers. ..
  5. Durbeej M, Campbell K. Biochemical characterization of the epithelial dystroglycan complex. J Biol Chem. 1999;274:26609-16 pubmed
  6. Henry M, Campbell K. A role for dystroglycan in basement membrane assembly. Cell. 1998;95:859-70 pubmed
    ..These data establish a role for dystroglycan in the assembly of basement membranes and suggest fundamental mechanisms underlying this process. ..
  7. Matsumura K, Nonaka I, Campbell K. Abnormal expression of dystrophin-associated proteins in Fukuyama-type congenital muscular dystrophy. Lancet. 1993;341:521-2 pubmed
  8. Hara Y, Balci Hayta B, Yoshida Moriguchi T, Kanagawa M, Beltran Valero de Bernabe D, Gundesli H, et al. A dystroglycan mutation associated with limb-girdle muscular dystrophy. N Engl J Med. 2011;364:939-46 pubmed publisher
  9. Beedle A, Turner A, Saito Y, Lueck J, Foltz S, Fortunato M, et al. Mouse fukutin deletion impairs dystroglycan processing and recapitulates muscular dystrophy. J Clin Invest. 2012;122:3330-42 pubmed publisher

More Information


  1. Moore S, Saito F, Chen J, Michele D, Henry M, Messing A, et al. Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy. Nature. 2002;418:422-5 pubmed
    ..Our data strongly support the hypothesis that defects in dystroglycan are central to the pathogenesis of structural and functional brain abnormalities seen in CMD. ..
  2. Kanagawa M, Saito F, Kunz S, Yoshida Moriguchi T, Barresi R, Kobayashi Y, et al. Molecular recognition by LARGE is essential for expression of functional dystroglycan. Cell. 2004;117:953-64 pubmed
    ..Therefore, molecular recognition of dystroglycan by LARGE is a key determinant in the biosynthetic pathway to produce mature and functional dystroglycan. ..
  3. Barresi R, Campbell K. Dystroglycan: from biosynthesis to pathogenesis of human disease. J Cell Sci. 2006;119:199-207 pubmed
    ..Our increased understanding of the mechanisms of interaction of dystroglycan with its ligands has become an essential tool in deciphering the biological processes related to the human diseases in which the proteins are implicated. ..
  4. Roberds S, Campbell K. Adhalin mRNA and cDNA sequence are normal in the cardiomyopathic hamster. FEBS Lett. 1995;364:245-9 pubmed
    ..6 hamster cardiac muscle, and no mutation in adhalin coding sequence was found, indicating that the inherited myopathy and cardiomyopathy of the BIO 14.6 hamster are most likely not due to mutations in the adhalin gene. ..
  5. Yang B, Jung D, Motto D, Meyer J, Koretzky G, Campbell K. SH3 domain-mediated interaction of dystroglycan and Grb2. J Biol Chem. 1995;270:11711-4 pubmed
    ..The specific dystroglycan-Grb2 interaction may play an important role in extracellular matrix-mediated signal transduction and/or cytoskeleton organization in skeletal muscle that may be essential for muscle cell viability. ..
  6. Dylla D, Michele D, Campbell K, McCray P. Basolateral entry and release of New and Old World arenaviruses from human airway epithelia. J Virol. 2008;82:6034-8 pubmed publisher
    ..Viral egress from infected epithelia exhibited basolateral polarity. This study demonstrates that respiratory entry of arenaviruses occurs via basolateral receptors...
  7. Satz J, Barresi R, Durbeej M, Willer T, Turner A, Moore S, et al. Brain and eye malformations resembling Walker-Warburg syndrome are recapitulated in mice by dystroglycan deletion in the epiblast. J Neurosci. 2008;28:10567-75 pubmed publisher
  8. Willer T, Lee H, Lommel M, Yoshida Moriguchi T, de Bernabe D, Venzke D, et al. ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. Nat Genet. 2012;44:575-80 pubmed publisher
    ..Finally, we show that recessive mutations in ISPD abolish the initial step in laminin-binding glycan synthesis by disrupting dystroglycan O-mannosylation. This establishes a new mechanism for WWS pathophysiology. ..
  9. Satz J, Ostendorf A, Hou S, Turner A, Kusano H, Lee J, et al. Distinct functions of glial and neuronal dystroglycan in the developing and adult mouse brain. J Neurosci. 2010;30:14560-72 pubmed publisher
    ..Differences in dystroglycan glycosylation in distinct cell types of the CNS may contribute to the diversity of dystroglycan function in the CNS, as well as to the broad clinical spectrum of type II lissencephalies. ..
  10. Michele D, Barresi R, Kanagawa M, Saito F, Cohn R, Satz J, et al. Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies. Nature. 2002;418:417-22 pubmed
  11. Durbeej M, Campbell K. Muscular dystrophies involving the dystrophin-glycoprotein complex: an overview of current mouse models. Curr Opin Genet Dev. 2002;12:349-61 pubmed
  12. Straub V, Duclos F, Venzke D, Lee J, Cutshall S, Leveille C, et al. Molecular pathogenesis of muscle degeneration in the delta-sarcoglycan-deficient hamster. Am J Pathol. 1998;153:1623-30 pubmed
    ..6 hamster. Based on our results, we propose that loss of delta-sarcoglycan results in the impairment of sarcolemmal integrity, finally leading to muscular dystrophy and cardiomyopathy. ..
  13. Durbeej M, Cohn R, Hrstka R, Moore S, Allamand V, Davidson B, et al. Disruption of the beta-sarcoglycan gene reveals pathogenetic complexity of limb-girdle muscular dystrophy type 2E. Mol Cell. 2000;5:141-51 pubmed
    ..Thus, perturbation of vascular function together with disruption of the epsilon-sarcoglycan-containing complex represents a novel mechanism in the pathogenesis of LGMD 2E. ..
  14. Matsumura K, Tome F, Collin H, Azibi K, Chaouch M, Kaplan J, et al. Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy. Nature. 1992;359:320-2 pubmed
    ..Therefore, the loss of this glycoprotein is a common denominator of the pathological process leading to muscle cell necrosis in two forms of muscular dystrophy, DMD and SCARMD. ..
  15. Duclos F, Broux O, Bourg N, Straub V, Feldman G, Sunada Y, et al. Beta-sarcoglycan: genomic analysis and identification of a novel missense mutation in the LGMD2E Amish isolate. Neuromuscul Disord. 1998;8:30-8 pubmed
    ..Interestingly, in addition to the loss of the entire sarcoglycan complex, we detected a reduction of alpha-dystroglycan which suggests a role for the sarcoglycan complex in stabilizing alpha-dystroglycan at the sarcolemma. ..
  16. Ibraghimov Beskrovnaya O, Milatovich A, Ozcelik T, Yang B, Koepnick K, Francke U, et al. Human dystroglycan: skeletal muscle cDNA, genomic structure, origin of tissue specific isoforms and chromosomal localization. Hum Mol Genet. 1993;2:1651-7 pubmed
    ..Therefore, we hypothesize that variable glycosylation of the conserved protein core might modulate laminin binding. The relationship of dystroglycan to human diseases is discussed. ..
  17. Cohn R, Henry M, Michele D, Barresi R, Saito F, Moore S, et al. Disruption of DAG1 in differentiated skeletal muscle reveals a role for dystroglycan in muscle regeneration. Cell. 2002;110:639-48 pubmed
    ..Therefore, inadequate repair of skeletal muscle by satellite cells represents an important mechanism affecting the pathogenesis of muscular dystrophy. ..
  18. de Bernabe D, Inamori K, Yoshida Moriguchi T, Weydert C, Harper H, Willer T, et al. Loss of alpha-dystroglycan laminin binding in epithelium-derived cancers is caused by silencing of LARGE. J Biol Chem. 2009;284:11279-84 pubmed publisher
  19. Yoshida Moriguchi T, Willer T, Anderson M, Venzke D, Whyte T, Muntoni F, et al. SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function. Science. 2013;341:896-9 pubmed publisher
    ..These findings suggest how mutations in GTDC2, B3GALNT2, and SGK196 disrupt dystroglycan receptor function and lead to congenital muscular dystrophy. ..
  20. Kanagawa M, Michele D, Satz J, Barresi R, Kusano H, Sasaki T, et al. Disruption of perlecan binding and matrix assembly by post-translational or genetic disruption of dystroglycan function. FEBS Lett. 2005;579:4792-6 pubmed
    ..These data suggest functional disruption of the trimolecular complex in glycosylation-deficient muscular dystrophy. ..
  21. Lim L, Duclos F, Broux O, Bourg N, Sunada Y, Allamand V, et al. Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12. Nat Genet. 1995;11:257-65 pubmed
    ..Thus, the beta-sarcoglycan gene is the fifth locus identified (LGMD2E) that is involved in autosomal recessive limb-girdle muscular dystrophy. ..
  22. Ibraghimov Beskrovnaya O, Ervasti J, Leveille C, Slaughter C, Sernett S, Campbell K. Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix. Nature. 1992;355:696-702 pubmed
  23. Satz J, Philp A, Nguyen H, Kusano H, Lee J, Turk R, et al. Visual impairment in the absence of dystroglycan. J Neurosci. 2009;29:13136-46 pubmed publisher
    ..In contrast to the role of alpha-dystroglycan extracellular interactions during early development of the CNS, beta-dystroglycan intracellular interactions are important for visual function but not the laminar development of the retina. ..
  24. Inamori K, Hara Y, Willer T, Anderson M, Zhu Z, Yoshida Moriguchi T, et al. Xylosyl- and glucuronyltransferase functions of LARGE in ?-dystroglycan modification are conserved in LARGE2. Glycobiology. 2013;23:295-302 pubmed publisher
    ..Our results suggest that LARGE and LARGE2 catalyze the same glycosylation reactions for the functional modification of ?-DG, but that they have different biochemical properties. ..
  25. Goddeeris M, Wu B, Venzke D, Yoshida Moriguchi T, Saito F, Matsumura K, et al. LARGE glycans on dystroglycan function as a tunable matrix scaffold to prevent dystrophy. Nature. 2013;503:136-40 pubmed publisher
    ..Our results reveal that the LARGE-glycan of dystroglycan serves as a tunable extracellular matrix protein scaffold, the extension of which is required for normal skeletal muscle function. ..
  26. Saito F, Moore S, Barresi R, Henry M, Messing A, Ross Barta S, et al. Unique role of dystroglycan in peripheral nerve myelination, nodal structure, and sodium channel stabilization. Neuron. 2003;38:747-58 pubmed
    ..Dystroglycan may be required for the normal maintenance of voltage-gated sodium channels at nodes of Ranvier, possibly by mediating trans interactions between Schwann cell microvilli and the nodal axolemma. ..
  27. Barresi R, Moore S, Stolle C, Mendell J, Campbell K. Expression of gamma -sarcoglycan in smooth muscle and its interaction with the smooth muscle sarcoglycan-sarcospan complex. J Biol Chem. 2000;275:38554-60 pubmed
    ..Taken together, our results prove that the sarcoglycan complex in vascular and visceral smooth muscle consists of epsilon-, beta-, gamma-, and delta-sarcoglycans and is associated with sarcospan. ..
  28. Williamson R, Henry M, Daniels K, Hrstka R, Lee J, Sunada Y, et al. Dystroglycan is essential for early embryonic development: disruption of Reichert's membrane in Dag1-null mice. Hum Mol Genet. 1997;6:831-41 pubmed
    ..Furthermore, these results suggest that disruption of basement membrane organization might be a common feature of muscular dystrophies linked to the DGC. ..
  29. Yoshida Moriguchi T, Yu L, Stalnaker S, Davis S, Kunz S, Madson M, et al. O-mannosyl phosphorylation of alpha-dystroglycan is required for laminin binding. Science. 2010;327:88-92 pubmed publisher
    ..These findings expand our understanding of the mechanisms that underlie congenital muscular dystrophy. ..
  30. Barresi R, Michele D, Kanagawa M, Harper H, Dovico S, Satz J, et al. LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies. Nat Med. 2004;10:696-703 pubmed
    ..Our findings indicate that modulation of LARGE expression or activity is a viable therapeutic strategy for glycosyltransferase-deficient congenital muscular dystrophies. ..
  31. Esser A, Miller M, Huang Q, Meier M, Beltran Valero de Bernabe D, Stipp C, et al. Loss of LARGE2 disrupts functional glycosylation of α-dystroglycan in prostate cancer. J Biol Chem. 2013;288:2132-42 pubmed publisher
    ..Our results describe a novel molecular mechanism to account for the commonly observed hypoglycosylation of αDG in prostate cancer. ..
  32. Hara Y, Kanagawa M, Kunz S, Yoshida Moriguchi T, Satz J, Kobayashi Y, et al. Like-acetylglucosaminyltransferase (LARGE)-dependent modification of dystroglycan at Thr-317/319 is required for laminin binding and arenavirus infection. Proc Natl Acad Sci U S A. 2011;108:17426-31 pubmed publisher
  33. Inamori K, Yoshida Moriguchi T, Hara Y, Anderson M, Yu L, Campbell K. Dystroglycan function requires xylosyl- and glucuronyltransferase activities of LARGE. Science. 2012;335:93-6 pubmed publisher
    ..This modification allowed ?-DG to bind laminin-G domain-containing ECM ligands. ..
  34. Crosbie R, Lebakken C, Holt K, Venzke D, Straub V, Lee J, et al. Membrane targeting and stabilization of sarcospan is mediated by the sarcoglycan subcomplex. J Cell Biol. 1999;145:153-65 pubmed
    ..In addition, the SG- SPN subcomplex functions to stabilize alpha-dystroglycan to the muscle plasma membrane. Taken together, our data provide important information about assembly and function of the SG-SPN subcomplex. ..
  35. Jung D, Yang B, Meyer J, Chamberlain J, Campbell K. Identification and characterization of the dystrophin anchoring site on beta-dystroglycan. J Biol Chem. 1995;270:27305-10 pubmed
  36. Han R, Kanagawa M, Yoshida Moriguchi T, Rader E, Ng R, Michele D, et al. Basal lamina strengthens cell membrane integrity via the laminin G domain-binding motif of alpha-dystroglycan. Proc Natl Acad Sci U S A. 2009;106:12573-9 pubmed publisher
    ..These data provide direct mechanistic insight into how the dystroglycan-linked basal lamina contributes to the maintenance of sarcolemmal integrity and protects muscles from damage. ..
  37. Clements R, Turk R, Campbell K, Wright K. Dystroglycan Maintains Inner Limiting Membrane Integrity to Coordinate Retinal Development. J Neurosci. 2017;37:8559-8574 pubmed publisher
    ..These results demonstrate that disorganization of retinal circuit development is a likely contributor to visual dysfunction in patients with dystroglycanopathy. ..