Dystroglycan: important player in skeletal muscle and beyond, Neuromuscular Disorders, vol.15, issue.3, pp.207-217, 2005. ,
DOI : 10.1016/j.nmd.2004.11.005
Diagnostic criteria for Walker- Warburg syndrome, Am. J. Med. Genet, vol.32, pp.195-210, 1989. ,
The congenital muscular dystrophies in 2004: a century of exciting progress, Neuromuscular Disorders, vol.14, issue.10, pp.635-649, 2004. ,
DOI : 10.1016/j.nmd.2004.06.009
Function and genetics of dystrophin and dystrophin-related proteins in muscle The complexities of dystroglycan, Physiol. Rev. Trends Biochem. Sci, vol.82, issue.26, pp.291-329, 2001. ,
Primary structure of dystrophin-associated glycoproteins linking
dystrophin to the extracellular matrix, Nature, vol.355, issue.6362, pp.696-702, 1992. ,
DOI : 10.1038/355696a0
Dystroglycan binds nerve and muscle agrin, Neuron, vol.13, issue.1, pp.103-115, 1994. ,
DOI : 10.1016/0896-6273(94)90462-6
Binding of the G domains of laminin ??1 and ??2 chains and perlecan to heparin, sulfatides, ??-dystroglycan and several extracellular matrix proteins, The EMBO Journal, vol.18, issue.4, pp.863-870, 1999. ,
DOI : 10.1093/emboj/18.4.863
A stoichiometric complex of neurexins and dystroglycan in brain, The Journal of Cell Biology, vol.269, issue.2, pp.435-445, 2001. ,
DOI : 10.1083/jcb.200105003
Pikachurin, a dystroglycan ligand, is essential for photoreceptor ribbon synapse formation, Nature Neurosci, vol.11, pp.923-931, 2008. ,
A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin, The Journal of Cell Biology, vol.122, issue.4, pp.809-823, 1993. ,
DOI : 10.1083/jcb.122.4.809
Dystroglycan glycosylation and its role in matrix binding in skeletal muscle, Glycobiology, vol.13, issue.8, pp.55-66, 2003. ,
DOI : 10.1093/glycob/cwg076
Dystroglycan in development and disease, Dystroglycan in development and disease, pp.594-601, 1998. ,
DOI : 10.1016/S0955-0674(98)80034-3
Dystroglycan inside and out, Current Opinion in Cell Biology, vol.11, issue.5, pp.602-607, 1999. ,
DOI : 10.1016/S0955-0674(99)00024-1
Neural regulation of ?-dystroglycan biosynthesis and glycosylation in skeletal muscle, J. Neurochem, vol.74, pp.70-80, 2000. ,
Electron microscopic evidence for a mucin-like region in chick muscle ??-dystroglycan, FEBS Letters, vol.15, issue.1, pp.139-142, 1995. ,
DOI : 10.1016/0014-5793(95)00628-M
Structural Analysis of Sequences O-Linked to Mannose Reveals a Novel Lewis X Structure in Cranin (Dystroglycan) Purified from Sheep Brain, Journal of Biological Chemistry, vol.273, issue.37, pp.273-23698, 1998. ,
DOI : 10.1074/jbc.273.37.23698
Structures of sialylated O-linked oligosaccharides of bovine peripheral nerve a-dystroglycan. The role of a novel O-mannosyl-type oligosaccharide in binding of ?-dystroglycan with laminin, J. Biol. Chem, pp.272-2156, 1997. ,
Detection of O-mannosyl glycans in rabbit skeletal muscle ??-dystroglycan, Biochimica et Biophysica Acta (BBA) - General Subjects, vol.1425, issue.3 ,
DOI : 10.1016/S0304-4165(98)00114-7
Brain contains HNK-1 immunoreactive O-glycans of the sulfoglucuronyl lactosamine series that terminate in 2, J. Biol. Chem, issue.2, pp.272-8924, 1997. ,
O-mannosyl glycans: from yeast to novel associations with human disease, Current Opinion in Structural Biology, vol.13, issue.5, pp.13-621, 2003. ,
DOI : 10.1016/j.sbi.2003.09.003
Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity, Proc. Natl ,
Targeted disruption of the Walker-Warburg syndrome gene Pomt1 in mouse results in embryonic lethality, Proc. Natl. Acad. Sci. USA, pp.14126-14131, 2004. ,
Expression of the Murine Pomt1 Gene in Both the Developing Brain and Adult Muscle Tissues and Its Relationship with Clinical Aspects of Walker-Warburg Syndrome, The American Journal of Pathology, vol.170, issue.5, pp.1659-1688, 2007. ,
DOI : 10.2353/ajpath.2007.061264
O-Mannosyl glycans in mammals, Biochimica et Biophysica Acta (BBA) - General Subjects, vol.1473, issue.1, pp.237-246, 1999. ,
DOI : 10.1016/S0304-4165(99)00182-8
Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease, Neurology, vol.56, pp.1059-1069, 2001. ,
New POMT2 mutations causing congenital muscular dystrophy: Identification of a founder mutation, Neurology, vol.69, pp.1254-1260, 2007. ,
URL : https://hal.archives-ouvertes.fr/inserm-00201941
Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome, Am. J. Med. Genet, pp.133-53, 2005. ,
Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East, Hum. Mut, pp.29-231, 2008. ,
POMT2 mutation in a patient with ???MEB-like??? phenotype, Neuromuscular Disorders, vol.16, issue.7, pp.16-446, 2006. ,
DOI : 10.1016/j.nmd.2006.03.016
Refining genotype -phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan, Brain, vol.130, pp.2725-2735, 2007. ,
An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker???Warburg syndrome (WWS) caused by a mutation in the POMT1 gene, Neuromuscular Disorders, vol.15, issue.4, pp.15-271, 2005. ,
DOI : 10.1016/j.nmd.2005.01.013
POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes, Biochem. Biophys. Res. Comm, pp.363-1033, 2007. ,
Walker- Warburg Syndrome with POMT1 mutations can be associated with cleft lip and cleft palate, pp.18-675, 2008. ,
The expanding phenotype of POMT1 mutations: From Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation, Hum. Mut, pp.27-453, 2006. ,
Mutations of the POMT1 gene found in patients with Walker???Warburg syndrome lead to a defect of protein O-mannosylation, Biochemical and Biophysical Research Communications, vol.325, issue.1, pp.325-75, 2004. ,
DOI : 10.1016/j.bbrc.2004.10.001
Physical and Functional Association of Human Protein O-Mannosyltransferases 1 and 2, Journal of Biological Chemistry, vol.281, issue.28 ,
DOI : 10.1074/jbc.M601091200
Physical and Functional Association of Human Protein O-Mannosyltransferases 1 and 2, Journal of Biological Chemistry, vol.281, issue.28 ,
DOI : 10.1074/jbc.M601091200
Cloning and expression of a novel UDP- GlcNAc :alpha-D-mannoside beta 1,2-N-acetylglucosaminyltransferase homologous to UDP-GlcNAc:alpha-3-D-mannoside beta 1,2-N-acetylglucosaminyltransferase I, Biochem. J, pp.361-153, 2002. ,
A homozygous nonsense mutation in the Fukutin gene causes a Walker-Warburg Syndrome phenotype, J. Med. Genet, vol.40, pp.845-848, 2003. ,
A new mutation of the fukutin gene in a non-Japanese patient, Ann. Neurol, pp.53-392, 2003. ,
Glyc-O-genetics of Walker-Warburg syndrome, Clinical Genetics, vol.127, issue.Spec No 2, pp.281-289, 2005. ,
DOI : 10.1111/j.1399-0004.2004.00368.x
Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome, Clinical Genetics, vol.31, issue.2, pp.73-139, 2008. ,
DOI : 10.1111/j.1399-0004.2007.00936.x
Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype, Neuromusc. Dis, vol.19, pp.182-188, 2009. ,
Functional requirements for fukutin-related protein in the Golgi apparatus, Hum. Mol. Genet, vol.11, pp.3319-3331, 2002. ,
The fukutin protein family ??? predicted enzymes modifying cell-surface molecules, Current Biology, vol.9, issue.22, pp.836-837, 1999. ,
DOI : 10.1016/S0960-9822(00)80039-1
Molecular interaction between fukutin and POMGnT1 in the glycosylation pathway of a-dystroglycan, Biochem. Biophys. Res. Comm, vol.350, pp.935-941, 2006. ,
Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha 2 deficiency and abnormal glycosylation of alpha-dystroglycan, Am. J. Hum. Genet, pp.69-1198, 2001. ,
Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome, Journal of Medical Genetics, vol.41, issue.5, pp.41-61, 2004. ,
DOI : 10.1136/jmg.2003.013870
Phenotypic spectrum associated with mutations in the fukutin-related protein gene, Annals of Neurology, vol.10, issue.4, pp.53-537, 2003. ,
DOI : 10.1002/ana.10559
High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 21 in Denmark, Ann. Neurol, pp.59-808, 2006. ,
FKRP (826C > A) frequently causes limbgirdle muscular dystrophy in German patients, J. Med. Genet, pp.41-50, 2004. ,
Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells, Human Molecular Genetics, vol.14, issue.2, pp.14-295, 2005. ,
DOI : 10.1093/hmg/ddi026
Sub cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2I, Neuromusc. Dis, vol.15, pp.836-843, 2005. ,
The human LARGE gene from 22q12.3-q13.1 is a new distinct member of the glycosyltransferase gene family ,
Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome, Hum. Genet, vol.121, pp.685-690, 2007. ,
Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan, Hum. Mol. Genet, pp.12-2853, 2003. ,
Characterization of the LARGE family of putative glycosyltransferases associated with dystroglycanopathies, Glycobiology, vol.15, issue.10, pp.912-923, 2005. ,
DOI : 10.1093/glycob/cwi094
Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy, Human Molecular Genetics, vol.14, issue.5, pp.15-657, 2005. ,
DOI : 10.1093/hmg/ddi062
LARGE2 facilitates the maturation of alpha-dystroglycan more effectively than LARGE, Biochem. Biophys. Res. Comm, pp.329-1162, 2005. ,
The assembly system for the lipopolysaccharide R2 core-type of Escherichia coli is a hybrid of those found in Escherichia coli K-12 and Salmonella enterica, J. Biol. Chem, p.273, 1998. ,
Dystroglycan glycosylation and muscular dystrophy, Glycoconjugate Journal, vol.60, issue.3, pp.349-357, 2009. ,
DOI : 10.1007/s10719-008-9182-0
Mouse Large Can Modify Complex N- and Mucin O-Glycans on ??-Dystroglycan to Induce Laminin Binding, Journal of Biological Chemistry, vol.280, issue.21, pp.20851-20859, 2005. ,
DOI : 10.1074/jbc.M500069200
Glycosylation eases muscular dystrophy, Nature Medicine, vol.62, issue.7, pp.676-677, 2004. ,
DOI : 10.1093/emboj/18.4.863
Residual laminin-binding activity and enhanced dystroglycan glycosylation by LARGE in novel model mice to dystroglycanopathy, Hum. Mol. Genet, vol.18, pp.621-631, 2009. ,
Characterisation of dystroglycan-laminin interaction in peripheral nerve, J. Neurochem, pp.66-1518, 1996. ,
Enhanced laminin binding by ??-dystroglycan after enzymatic deglycosylation, Biochemical Journal, vol.390, issue.1, pp.303-309, 2005. ,
DOI : 10.1042/BJ20050375
URL : http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1184583
Dystroglycan is essential for early embryonic development: disruption of Reichert's membrane in Dag1-null mice, Human Molecular Genetics, vol.6, issue.6 ,
DOI : 10.1093/hmg/6.6.831
Chimaeric mice deficient in dystroglycans develop muscular dystrophy and have disrupted myoneural synapses, Nature Genet, vol.23, pp.338-342, 1999. ,
Disruption of Dag1 in differentiated skeletal muscle reveals a role for dystroglycan in muscle regeneration, Cell, vol.110, pp.639-648, 2002. ,
Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy, Nature, vol.6, issue.6896, pp.422-425, 2002. ,
DOI : 10.1083/jcb.142.6.1461
Brain and Eye Malformations Resembling Walker-Warburg Syndrome Are Recapitulated in Mice by Dystroglycan Deletion in the Epiblast, Journal of Neuroscience, vol.28, issue.42, pp.28-10567, 2008. ,
DOI : 10.1523/JNEUROSCI.2457-08.2008
Myodystrophy, a New Myopathy on Chromosome 8 of the Mouse, Journal of Heredity, vol.67, issue.3, pp.135-138, 1976. ,
DOI : 10.1093/oxfordjournals.jhered.a108687
Naked axons in myodystrophic mice, Brain Research, vol.146, issue.2, pp.380-384, 1978. ,
DOI : 10.1016/0006-8993(78)90983-6
Neuronal migration defects in cerebellum of the Large myd mouse are associated with disruptions in Bergmann glia organization and delayed migration of granule neurons, The Cerebellum, vol.4, issue.4, pp.261-270, 2005. ,
DOI : 10.1080/14734220500358351
Aberrant neuromuscular junctions and delayed terminal muscle fiber maturation in alpha-dystroglycanopathies, Hum ,
mouse are associated with stalled migration in the ventrolateral hindbrain, European Journal of Neuroscience, vol.16, issue.11, pp.2877-2886, 2006. ,
DOI : 10.1111/j.1460-9568.2006.04836.x
mouse, Journal of Neurochemistry, vol.142, issue.5, pp.1940-1953, 2007. ,
DOI : 10.1016/S0306-4522(01)00092-6
A Laminin-2, Dystroglycan, Utrophin Axis Is Required for Compartmentalization and Elongation of Myelin Segments, Journal of Neuroscience, vol.29, issue.12, pp.29-3908, 2009. ,
DOI : 10.1523/JNEUROSCI.5672-08.2009
Disruption of the mouse Large gene in the enr and myd mutants results in nerve, muscle, and neuromuscular junction defects, Molecular and Cellular Neuroscience, vol.28, issue.4, pp.28-757, 2005. ,
DOI : 10.1016/j.mcn.2004.12.007
A genetic model for muscle-eye-brain disease in mice lacking protein O-mannose 1,2-N-acetylglucosaminyltransferase (POMGnT1), Mech. Dev, pp.123-228, 2006. ,
Reduced proliferative activity of primary POMGnT1-null myoblasts in vitro, Mechanisms of Development, vol.126, issue.3-4, pp.126-107, 2009. ,
DOI : 10.1016/j.mod.2008.12.001
Fukutin is required for maintenance of muscle integrity, cortical histiogenesis and normal eye development, Human Molecular Genetics, vol.12, issue.>12, pp.1449-1459, 2003. ,
DOI : 10.1093/hmg/ddg153
Basement membrane fragility underlies embryonic lethality in fukutin-null mice, Neurobiology of Disease, vol.19, issue.1-2, pp.208-217, 2005. ,
DOI : 10.1016/j.nbd.2004.12.018
Reduced expression of fukutin related protein in mice results in a model for fukutin related protein associated muscular dystrophies, Brain, vol.132, pp.439-451, 2009. ,
The zebrafish as a model for muscular dystrophy and congenital myopathy, Human Molecular Genetics, vol.12, issue.suppl 2, pp.265-270, 2003. ,
DOI : 10.1093/hmg/ddg279
Genes required for functional glycosylation of dystroglycan are conserved in zebrafish??????Sequence data from this article have been deposited with the GenBank Data Library under Accession Nos. DQ826745 (Fukutin), DQ826746 (FKRP), DQ826747 (POMGnT1), DQ826748 (POMT1), and DQ826749 (POMT2)., Genomics, vol.92, issue.3, pp.159-167, 2008. ,
DOI : 10.1016/j.ygeno.2008.05.008
Developmental defects in a zebrafish model for muscular dystrophies associated with the loss of fukutin-related protein (FKRP), Brain, vol.131, issue.6, pp.1551-1561, 2008. ,
DOI : 10.1093/brain/awn078
The twisted Gene Encodes Drosophila Protein O-Mannosyltransferase 2 and Genetically Interacts With the rotated abdomen Gene Encoding Drosophila Protein O-Mannosyltransferase 1, Genetics, vol.172, issue.1, pp.343-353, 2006. ,
DOI : 10.1534/genetics.105.049650
Mutations in the rotated abdomen locus affect muscle development and reveal an intrinsic asymmetry in Drosophila., Proc. Natl ,
DOI : 10.1073/pnas.93.12.6048
Dystroglycan and Protein O-Mannosyltransferases 1 and 2 Are Required to Maintain Integrity of Drosophila Larval Muscles, Molecular Biology of the Cell, vol.18, issue.12, pp.4721-4730, 2007. ,
DOI : 10.1091/mbc.E07-01-0047
Synaptic Defects in a Drosophila Model of Congenital Muscular Dystrophy, Journal of Neuroscience, vol.28, issue.14, pp.3781-3789, 2008. ,
DOI : 10.1523/JNEUROSCI.0478-08.2008
The Twisted Abdomen Phenotype of Drosophila POMT1 and POMT2 Mutants Coincides with Their Heterophilic Protein O-Mannosyltransferase Activity, Journal of Biological Chemistry, vol.279, issue.41, pp.279-42638, 2004. ,
DOI : 10.1074/jbc.M404900200
Identification of -Dystroglycan as a Receptor for Lymphocytic Choriomeningitis Virus and Lassa Fever Virus, Science, vol.282, issue.5396, pp.2079-2081, 1998. ,
DOI : 10.1126/science.282.5396.2079
Posttranslational Modification of ??-Dystroglycan, the Cellular Receptor for Arenaviruses, by the Glycosyltransferase LARGE Is Critical for Virus Binding, Journal of Virology, vol.79, issue.22 ,
DOI : 10.1128/JVI.79.22.14282-14296.2005
Omannosylation of -dystroglycan is essential for lymphocytic choriomeningitis virus ? receptor function, J. Virol, pp.14297-14308, 2005. ,
Genome-wide detection and characterization of positive selection in human populations, Nature, vol.52, issue.7164, pp.913-919, 2007. ,
DOI : 10.1038/nature06250
Dystroglycan and Laminins: Glycoconjugates Involved in Branching Epithelial Morphogenesis, Experimental Lung Research, vol.270, issue.2, pp.109-118, 1997. ,
DOI : 10.1165/ajrcmb.14.3.8845174
The dystroglycan complex: From biology to cancer, Journal of Cellular Physiology, vol.104, issue.2, pp.163-169, 2005. ,
DOI : 10.1002/jcp.20411
A role for dystroglycan in epithelial polarization: Loss of function in breast tumor cells, Cancer Res, vol.62, pp.7102-7109, 2002. ,
Dystroglycan expression is frequently reduced in human breast and colon cancers and is associated with tumor progression, Am. J. Path, pp.162-849, 2003. ,
Aberrant expression, processing and degradation of dystroglycan in squamous cell carcinomas, European Journal of Cancer, vol.40, issue.14, pp.2143-2151, 2004. ,
DOI : 10.1016/j.ejca.2004.05.018
Altered expression of natively glycosylated ?? dystroglycan in pediatric solid tumors, Human Pathology, vol.38, issue.11, pp.1657-1668, 2007. ,
DOI : 10.1016/j.humpath.2007.03.025
Common fragile sites, extremely large genes, neural development and cancer, Cancer Letters, vol.232, issue.1, pp.48-57, 2006. ,
DOI : 10.1016/j.canlet.2005.06.049
Loss of alpha-dystroglycan laminin binding in epithelium-derived cancers is caused by silencing of LARGE, J. Biol. Chem. in press, 2009. ,
A comparative study of ?-dystroglycan glycosylation in dystroglycanopathies suggests that hypoglycosyation of ?-dystroglycan does not consistently correlate with clinical severity, Brain Pathol. in press, 2008. ,
) is responsible for the chicken muscular dystrophy, FEBS Letters, vol.278, issue.4, pp.2212-2218, 2008. ,
DOI : 10.1016/j.febslet.2008.05.013
Muscular dystrophy associated with alpha-dystroglycan deficiency in Sphynx and Devon Rex cats, pp.18-942, 2008. ,