Dystroglycan and dystroglycanopathies: Report of the 187th ENMC Workshop 11-13 November 2011, Naarden, The Netherlands

Neuromuscular Disorders

Volumn 22, Issue 7, 2012, Pages 659-668

  Brown, Susan C ^a   Winder, Steve J ^b  

^a ROYAL VETERINARY COLLEGE   (United Kingdom)

^b UNIVERSITY OF SHEFFIELD   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA DYSTROGLYCAN; BETA DYSTROGLYCAN; LIKE ACETYLGLUCOSAMINYLTRANSFERASE; PREDNISONE; TRANSFERASE; UNCLASSIFIED DRUG;

AMINO TERMINAL SEQUENCE; ARTICLE; BRAIN CYST; CELL POLARITY; CENTRAL NERVOUS SYSTEM DISEASE; CLINICAL FEATURE; CONGENITAL DISORDER; DISEASE CLASSIFICATION; DISEASE SEVERITY; DYSTROGLYCANOPATHY; ENZYME MODIFICATION; EXTRACELLULAR MATRIX; FKRP GENE; FKTN GENE; GENE; GENE THERAPY; HETEROZYGOTE; HOMOZYGOTE; HUMAN; MENTAL DEFICIENCY; MISSENSE MUTATION; MOLECULAR BIOLOGY; NETHERLANDS; NEUROMUSCULAR DISEASE; NONHUMAN; PATHOLOGICAL ANATOMY; PHENOTYPE; POMGNT1 GENE; POMT1 GENE; POMT2 GENE; PRIORITY JOURNAL; PROTEIN DEFECT; PROTEIN DEGRADATION; PROTEIN FUNCTION; PROTEIN PHOSPHORYLATION; PROTEIN PROCESSING; PROTEIN PROTEIN INTERACTION; PROTEIN STRUCTURE; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM;

ANIMALS; DYSTROGLYCANS; EXTRACELLULAR MATRIX; HUMANS; MUSCULAR DYSTROPHIES; NETHERLANDS; SIGNAL TRANSDUCTION;

EID: 84862226445     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2012.02.006     Document Type: Article

References (37)

1. Hara Y., Balci-Hayta B., Yoshida-Moriguchi T., et al. A dystroglycan mutation associated with limb-girdle muscular dystrophy. N Engl J Med 2011, 364:939-946.
2. Michele D.E., Campbell K.P. Dystrophin-glycoprotein complex: post-translational processing and dystroglycan function. J Biol Chem 2003, 278:15457-15460.
3. Muntoni F., Brockington M., Torelli S., Brown S.C. Defective glycosylation in congenital muscular dystrophies. Curr Opin Neurol 2004, 17:205-209.
4. Barresi R., Campbell K.P. Dystroglycan: from biosynthesis to pathogenesis of human disease. J Cell Sci 2006, 119:199-207.
5. Brockington M., Torelli S., Prandini P., et al. Localization and functional analysis of the large family of glycosyltransferases: significance for muscular dystrophy. Hum Mol Genet 2005, 14:657-665.
6. Brown S.C., Torelli S., Brockington M., et al. Abnormalities in a-dystroglycan expression in mdc1c and lgmd2i muscular dystrophies. Am J Pathol 2004, 164:727-737.
7. van Reeuwijk J., Janssen M., van den Elzen C., et al. POMT2 mutations cause ϱ-dystroglycan hypoglycosylation and Walker-Warburg syndrome. J Med Genet 2005, 42:907-912.
8. Beltran-Valero de Bernabe D., Currier S., Steinbrecher A., et al. Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet 2002, 71:1033-1043.
9. Yoshida A., Kobayashi K., Manya H., et al. Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. Dev Cell 2001, 1:717-724.
10. Toda T. Fukutin, a novel protein product responsible for fukuyama-type congenital muscular dystrophy. Seikagaku 1999, 71:55-61.
11. Brockington M., Blake D.J., Prandini P., et al. Mutations in the fukutin-related protein gene (fkrp) cause a form of congenital muscular dystrophy with secondary laminin 2 deficiency and abnormal glycosylation of -dystroglycan. Am J Hum Genet 2001, 69:1198-1209.
12. Longman C., Brockington M., Torelli S., et al. Mutations in the human large gene cause mdc1d, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of ϱ-dystroglycan. Hum Mol Genet 2003, 12:2853-2861.
13. van Reeuwijk J., Grewal P., Salih M., et al. Intragenic deletion in the large gene causes Walker-Warburg syndrome. Hum Genet 2007, 121:685-690.
14. Clement E.M., Godfrey C., Tan J., et al. Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant. Arch Neurol 2008, 65:137-141.
15. Yanagisawa A., Bouchet C., Van den Bergh P.Y., et al. New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation. Neurology 2007, 69:1254-1260.
16. Godfrey C., Clement E., Mein R., et al. Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain 2007, 130:2725-2735.
17. Balci B., Uyanik G., Dincer P., et al. An autosomal recessive limb girdle muscular dystrophy (lgmd2) with mild mental retardation is allelic to walker, äìwarburg syndrome (WWS) caused by a mutation in the POMT1 gene. Neuromuscul Disord 2005, 15:271-275.
18. Moore C., Winder S.J. Dystroglycan versatility in cell adhesion: a tale of multiple motifs. Cell Com Signal 2010, 8:3.
19. de Bernabe D.B.-V., Inamori K.-i., Yoshida-Moriguchi T., et al. Loss of a-dystroglycan laminin binding in epithelium-derived cancers is caused by silencing of large. J Biol Chem 2009, 284:11279-11284.
20. Losasso C., Di Tommaso F., Sgambato A., et al. Anomalous dystroglycan in carcinoma cell lines. FEBS Lett 2000, 484:194-198.
21. Cross S., Lippitt J., Mitchell A., et al. The expression of β-dystroglycan is reduced or absent in the majority of human carcinomas. Histopathol 2008, 53:561-566.
22. Godfrey C., Foley A.R., Clement E., Muntoni F. Dystroglycanopathies: coming into focus. Curr Opin Genet Dev 2011, 21:278-285.
23. Lefeber D.J., de Brouwer A.P.M., Morava E., et al. Autosomal recessive dilated cardiomyopathy due to dolk mutations results from abnormal dystroglycan O-mannosylation. PLoS Genet 2011, 7:e1002427.
24. Jimenez-Mallebrera C., Torelli S., Feng L., et al. A comparative study of α-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of α-dystroglycan does not consistently correlate with clinical severity. Brain Pathol 2009, 19:596-611.
25. Martin P.T., Xu R., Rodino-Klapac L.R., et al. Overexpression of galgt2 in skeletal muscle prevents injury resulting from eccentric contractions in both mdx and wild-type mice. Am J Physiol - Cell Physiol 2009, 296:C476-C488.
26. Lin Y.-Y., White R.J., Torelli S., et al. Zebrafish fukutin family proteins link the unfolded protein response with dystroglycanopathies. Hum Mol Genet 2011, 20:1763-1775.
27. Hoang Q.V., Mendonca L.S., Torre K.E.D., et al. Effect on intraocular pressure in patients receiving unilateral intravitreal anti-vascular endothelial growth factor injections. Ophthalmol 2011, 10.1016/j.ophtha.2011.08.011.
28. Wood A.J., Muller J.S., Jepson C.D., et al. Abnormal vascular development in zebrafish models for fukutin and fkrp deficiency. Hum Mol Genet 2011, 20:4879-4890.
29. Lipscomb L., Parkin C.A., Juusola M.I., Winder S.J. The proteasomal inhibitor mg132 prevents muscular dystrophy in zebrafish. PLoS Curr 2011, 3:RRN1286.
30. Budinger G.R.S., Urich D., DeBiase P.J., et al. Stretch-induced activation of amp kinase in the lung requires dystroglycan. Am J Resp Cell Mol Biol 2008, 39:666-672.
31. Takawira D., Budinger G.R.S., Hopkinson S.B., Jones J.C.R. A dystroglycan/plectin scaffold mediates mechanical pathway bifurcation in lung epithelial cells. J Biol Chem 2011, 286:6301-6310.
32. Moll J., Barzaghi P., Lin S., et al. An agrin minigene rescues dystrophic symptoms in a mouse model for congenital muscular dystrophy. Nature 2001, 413:302-307.
33. Meinen S., Barzaghi P., Lin S., Lochmuller H., Ruegg M.A. Linker molecules between laminins and dystroglycan ameliorate laminin-α2-deficient muscular dystrophy at all disease stages. J Cell Biol 2007, 176:979-993.
34. Girgenrath M., Dominov J.A., Kostek C.A., Miller J.B. Inhibition of apoptosis improves outcome in a model of congenital muscular dystrophy. J Clin Invest 2004, 114:1635-1639.
35. Erb M., Meinen S., Barzaghi P., et al. Omigapil ameliorates the pathology of muscle dystrophy caused by laminin-α2 deficiency. J Pharmacol Exp Ther 2009, 331:787-795.
36. Meinen S., Lin S., Thurnherr R., et al. Apoptosis inhibitors and mini-agrin have additive benefits in congenital muscular dystrophy mice. EMBO Mol Med 2011, 3:465-479.
37. Carmignac V., Quéré R., Durbeej M. Proteasome inhibition improves the muscle of laminin α2 chain-deficient mice. Hum Mol Genet 2011, 20:541-552.