-
1
-
-
0025272250
-
Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle
-
Ervasti JM, Ohlendieck K, Kahl SD et al (1990) Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle. Nature 345: 315-319
-
(1990)
Nature
, vol.345
, pp. 315-319
-
-
Ervasti, J.M.1
Ohlendieck, K.2
Kahl, S.D.3
-
2
-
-
32244440192
-
Dystroglycan: From biosynthesis to pathogenesis of human disease
-
Barresi R, Campbell KP (2006) Dystroglycan: from biosynthesis to pathogenesis of human disease. J Cell Sci 119: 199-207
-
(2006)
J Cell Sci
, vol.119
, pp. 199-207
-
-
Barresi, R.1
Campbell, K.P.2
-
3
-
-
79952391340
-
A dystroglycan mutation associated with limb-girdle muscular dystrophy
-
Hara Y, Balci-Hayta B, Yoshida-Moriguchi T et al (2011) A dystroglycan mutation associated with limb-girdle muscular dystrophy. N Engl J Med 364: 939-946
-
(2011)
N Engl J Med
, vol.364
, pp. 939-946
-
-
Hara, Y.1
Balci-Hayta, B.2
Yoshida-Moriguchi, T.3
-
4
-
-
0035838362
-
Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy
-
Hayashi YK, Ogawa M, Tagawa K et al (2001) Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy. Neurology 57: 115-121
-
(2001)
Neurology
, vol.57
, pp. 115-121
-
-
Hayashi, Y.K.1
Ogawa, M.2
Tagawa, K.3
-
5
-
-
0037173670
-
Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies
-
Michele DE, Barresi R, Kanagawa M et al (2002) Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies. Nature 418: 417-422
-
(2002)
Nature
, vol.418
, pp. 417-422
-
-
Michele, D.E.1
Barresi, R.2
Kanagawa, M.3
-
6
-
-
0035212037
-
Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan
-
Brockington M, Blake DJ, Prandini P et al (2001) Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. Am J Hum Genet 69: 1198-1209
-
(2001)
Am J Hum Genet
, vol.69
, pp. 1198-1209
-
-
Brockington, M.1
Blake, D.J.2
Prandini, P.3
-
7
-
-
18244375299
-
Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C
-
Brockington M, Yuva Y, Prandini P et al (2001) Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. Hum Mol Genet 10: 2851-2859
-
(2001)
Hum Mol Genet
, vol.10
, pp. 2851-2859
-
-
Brockington, M.1
Yuva, Y.2
Prandini, P.3
-
8
-
-
10744226857
-
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
-
Longman C, Brockington M, Torelli S et al (2003) 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 12: 2853-2861
-
(2003)
Hum Mol Genet
, vol.12
, pp. 2853-2861
-
-
Longman, C.1
Brockington, M.2
Torelli, S.3
-
9
-
-
1842467268
-
Fukuyama-type congenital muscular dystrophy (FCMD) and alpha-dystroglycanopathy
-
Toda T, Kobayashi K, Takeda S et al (2003) Fukuyama-type congenital muscular dystrophy (FCMD) and alpha-dystroglycanopathy. Congenit Anom (Kyoto) 43: 97-104
-
(2003)
Congenit Anom (Kyoto)
, vol.43
, pp. 97-104
-
-
Toda, T.1
Kobayashi, K.2
Takeda, S.3
-
10
-
-
0038182574
-
Dystrophin-glycoprotein complex: Post-translational processing and dystroglycan function
-
Michele DE, Campbell KP (2003) Dystrophin-glycoprotein complex: post-translational processing and dystroglycan function. J Biol Chem 278: 15457-15460
-
(2003)
J Biol Chem
, vol.278
, pp. 15457-15460
-
-
Michele, D.E.1
Campbell, K.P.2
-
11
-
-
0019471880
-
Congenital progressive muscular dystrophy of the Fukuyama type - clinical, genetic and pathological considerations
-
Fukuyama Y, Osawa M, Suzuki H (1981) Congenital progressive muscular dystrophy of the Fukuyama type - clinical, genetic and pathological considerations. Brain Dev 3: 1-29
-
(1981)
Brain Dev
, vol.3
, pp. 1-29
-
-
Fukuyama, Y.1
Osawa, M.2
Suzuki, H.3
-
13
-
-
0036291325
-
Deficiency of alpha-dystroglycan in muscle-eyebrain disease
-
Kano H, Kobayashi K, Herrmann R (2002) Deficiency of alpha-dystroglycan in muscle-eyebrain disease. Biochem Biophys Res Commun 291: 1283-1286
-
(2002)
Biochem Biophys Res Commun
, vol.291
, pp. 1283-1286
-
-
Kano, H.1
Kobayashi, K.2
Herrmann, R.3
-
14
-
-
33845309490
-
Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness
-
Murakami T, Hayashi YK, Noguchi S et al (2006) Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness. Ann Neurol 60: 597-602
-
(2006)
Ann Neurol
, vol.60
, pp. 597-602
-
-
Murakami, T.1
Hayashi, Y.K.2
Noguchi, S.3
-
15
-
-
33745379190
-
Expanding the clinical spectrum of POMT1 phenotype
-
D’Amico A, Tessa A, Bruno C et al (2006) Expanding the clinical spectrum of POMT1 phenotype. Neurology 66: 1564-1567
-
(2006)
Neurology
, vol.66
, pp. 1564-1567
-
-
D’Amico, A.1
Tessa, A.2
Bruno, C.3
-
16
-
-
34848837334
-
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan
-
Godfrey C, Clement E, Mein R et al (2007) Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain 130: 2725-2735
-
(2007)
Brain
, vol.130
, pp. 2725-2735
-
-
Godfrey, C.1
Clement, E.2
Mein, R.3
-
18
-
-
0026543686
-
Primary structure of dystrophin- associated glycoproteins linking dystrophin to the extracellular matrix
-
Ibraghimov-Beskrovnaya O, Ervasti JM, Leveille CJ et al (1992) Primary structure of dystrophin- associated glycoproteins linking dystrophin to the extracellular matrix. Nature 355: 696-702
-
(1992)
Nature
, vol.355
, pp. 696-702
-
-
Ibraghimov-Beskrovnaya, O.1
Ervasti, J.M.2
Leveille, C.J.3
-
19
-
-
2942733346
-
Molecular recognition by LARGE is essential for expression of functional dystroglycan
-
Kanagawa M, Saito F, Kunz S et al (2004) Molecular recognition by LARGE is essential for expression of functional dystroglycan. Cell 117: 953-964
-
(2004)
Cell
, vol.117
, pp. 953-964
-
-
Kanagawa, M.1
Saito, F.2
Kunz, S.3
-
20
-
-
80054820808
-
Like-acetylglucosaminyltransferase (LARGE)- dependent modification of dystroglycan at Thr-317/319 is required for laminin binding and arenavirus infection
-
Hara Y, Kanagawa M, Kunz S et al (2011) 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 108: 17426-17431
-
(2011)
Proc Natl Acad Sci U S A
, vol.108
, pp. 17426-17431
-
-
Hara, Y.1
Kanagawa, M.2
Kunz, S.3
-
21
-
-
0031026624
-
Structures of sialylated O-linked oligosaccharides of bovine peripheral nerve alpha-dystroglycan. The role of a novel O-mannosyltype oligosaccharide in the binding of alpha-dystroglycan with laminin
-
Chiba A, Matsumura K, Yamada H et al (1997) Structures of sialylated O-linked oligosaccharides of bovine peripheral nerve alpha-dystroglycan. The role of a novel O-mannosyltype oligosaccharide in the binding of alpha-dystroglycan with laminin. J Biol Chem 272: 2156-2162
-
(1997)
J Biol Chem
, vol.272
, pp. 2156-2162
-
-
Chiba, A.1
Matsumura, K.2
Yamada, H.3
-
22
-
-
9144252532
-
N-Acetylglucosaminyltransferase IX acts on the GlcNAc beta 1,2-Man alpha 1-Ser/Thr moiety, forming a 2,6-branched structure in brain O-mannosyl glycan
-
Inamori K, Endo T, Gu J et al (2004) N-Acetylglucosaminyltransferase IX acts on the GlcNAc beta 1,2-Man alpha 1-Ser/Thr moiety, forming a 2,6-branched structure in brain O-mannosyl glycan. J Biol Chem 279: 2337-2340
-
(2004)
J Biol Chem
, vol.279
, pp. 2337-2340
-
-
Inamori, K.1
Endo, T.2
Gu, J.3
-
23
-
-
74849131820
-
O-mannosyl phosphorylation of alphadystroglycan is required for laminin binding
-
Yoshida-Moriguchi T, Yu L, Stalnaker SH et al (2010) O-mannosyl phosphorylation of alphadystroglycan is required for laminin binding. Science 327: 88-92
-
(2010)
Science
, vol.327
, pp. 88-92
-
-
Yoshida-Moriguchi, T.1
Yu, L.2
Stalnaker, S.H.3
-
24
-
-
84855515852
-
Dystroglycan function requires xylosyland glucuronyltransferase activities of LARGE
-
Inamori K, Yoshida-Moriguchi T, Hara Y et al (2012) Dystroglycan function requires xylosyland glucuronyltransferase activities of LARGE. Science 335: 93-96
-
(2012)
Science
, vol.335
, pp. 93-96
-
-
Inamori, K.1
Yoshida-Moriguchi, T.2
Hara, Y.3
-
25
-
-
84887405820
-
LARGE glycans on dystroglycan function as a tunable matrix scaffold to prevent dystrophy
-
Goddeeris MM, Wu B, Venzke D et al (2013) LARGE glycans on dystroglycan function as a tunable matrix scaffold to prevent dystrophy. Nature 503: 136-140
-
(2013)
Nature
, vol.503
, pp. 136-140
-
-
Goddeeris, M.M.1
Wu, B.2
Venzke, D.3
-
26
-
-
3142731311
-
LARGE can functionally bypass alphadystroglycan glycosylation defects in distinct congenital muscular dystrophies
-
Barresi R, Michele DE, Kanagawa M et al (2004) LARGE can functionally bypass alphadystroglycan glycosylation defects in distinct congenital muscular dystrophies. Nat Med 10: 696-703
-
(2004)
Nat Med
, vol.10
, pp. 696-703
-
-
Barresi, R.1
Michele, D.E.2
Kanagawa, M.3
-
27
-
-
0038185363
-
Mutations in the Omannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome
-
Beltrán-Valero de Bernabé D, Currier S, Steinbrecher A et al (2002) Mutations in the Omannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet 71: 1033-1043
-
(2002)
Am J Hum Genet
, vol.71
, pp. 1033-1043
-
-
Beltrán-Valero de Bernabé, D.1
Currier, S.2
Steinbrecher, A.3
-
28
-
-
26944438148
-
POMT2 mutations cause alphadystroglycan hypoglycosylation and Walker-Warburg syndrome
-
van Reeuwijk J, Janssen M, van den Elzen C (2005) POMT2 mutations cause alphadystroglycan hypoglycosylation and Walker-Warburg syndrome. J Med Genet 42: 907-912
-
(2005)
J Med Genet
, vol.42
, pp. 907-912
-
-
van Reeuwijk, J.1
Janssen, M.2
van den Elzen, C.3
-
29
-
-
0347635516
-
Demonstration of mammalian protein O-mannosyltransferase activity: Coexpression of POMT1 and POMT2 required for enzymatic activity
-
Manya H, Chiba A, Yoshida A et al (2004) Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity. Proc Natl Acad Sci U S A 101: 500-505
-
(2004)
Proc Natl Acad Sci U S A
, vol.101
, pp. 500-505
-
-
Manya, H.1
Chiba, A.2
Yoshida, A.3
-
30
-
-
18044400450
-
Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1
-
Yoshida A, Kobayashi K, Manya H et al (2001) Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. Dev Cell 1: 717-724
-
(2001)
Dev Cell
, vol.1
, pp. 717-724
-
-
Yoshida, A.1
Kobayashi, K.2
Manya, H.3
-
31
-
-
23944504765
-
Enhanced laminin binding by alpha-dystroglycan after enzymatic deglycosylation
-
Combs AC, Ervasti JM (2005) Enhanced laminin binding by alpha-dystroglycan after enzymatic deglycosylation. Biochem J 390: 303-309
-
(2005)
Biochem J
, vol.390
, pp. 303-309
-
-
Combs, A.C.1
Ervasti, J.M.2
-
32
-
-
84858598482
-
Absence of post-phosphoryl modification in dystroglycanopathy mouse models and wild-type tissues expressing non-laminin binding form of α-dystroglycan
-
Kuga A, Kanagawa M, Sudo A et al (2012) Absence of post-phosphoryl modification in dystroglycanopathy mouse models and wild-type tissues expressing non-laminin binding form of α-dystroglycan. J Biol Chem 287: 9560-9567
-
(2012)
J Biol Chem
, vol.287
, pp. 9560-9567
-
-
Kuga, A.1
Kanagawa, M.2
Sudo, A.3
-
33
-
-
84866063186
-
Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome
-
Manzini MC, Tambunan DE, Hill RS et al (2012) Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. Am J Hum Genet 91: 541-547
-
(2012)
Am J Hum Genet
, vol.91
, pp. 541-547
-
-
Manzini, M.C.1
Tambunan, D.E.2
Hill, R.S.3
-
34
-
-
84876414078
-
Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan
-
Stevens E, Carss KJ, Cirak S et al (2013) Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan. Am J Hum Genet 92: 354-365
-
(2013)
Am J Hum Genet
, vol.92
, pp. 354-365
-
-
Stevens, E.1
Carss, K.J.2
Cirak, S.3
-
35
-
-
84876664165
-
Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry
-
Jae LT, Raaben M, Riemersma M et al (2013) Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry. Science 340: 479-483
-
(2013)
Science
, vol.340
, pp. 479-483
-
-
Jae, L.T.1
Raaben, M.2
Riemersma, M.3
-
36
-
-
84882923644
-
SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function
-
Yoshida-Moriguchi T, Willer T, Anderson ME et al (2013) SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function. Science 341: 896-899
-
(2013)
Science
, vol.341
, pp. 896-899
-
-
Yoshida-Moriguchi, T.1
Willer, T.2
Anderson, M.E.3
-
37
-
-
13044316713
-
The human LARGE gene from 22q12.3-q13.1 is a new, distinct member of the glycosyltransferase gene family
-
Peyrard M, Seroussi E, Sandberg-Nordqvist AC et al (1999) The human LARGE gene from 22q12.3-q13.1 is a new, distinct member of the glycosyltransferase gene family. Proc Natl Acad Sci U S A 96: 598-603
-
(1999)
Proc Natl Acad Sci U S A
, vol.96
, pp. 598-603
-
-
Peyrard, M.1
Seroussi, E.2
Sandberg-Nordqvist, A.C.3
-
38
-
-
0034975777
-
Mutant glycosyltransferase and altered glycosylation of alpha-dystroglycan in the myodystrophy mouse
-
Grewal PK, Holzfeind PJ, Bittner RE et al (2001) Mutant glycosyltransferase and altered glycosylation of alpha-dystroglycan in the myodystrophy mouse. Nat Genet 28: 151-154
-
(2001)
Nat Genet
, vol.28
, pp. 151-154
-
-
Grewal, P.K.1
Holzfeind, P.J.2
Bittner, R.E.3
-
39
-
-
84875953109
-
Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome
-
Buysse K, Riemersma M, Powell G et al (2013) Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome. Hum Mol Genet 22: 1746-1754
-
(2013)
Hum Mol Genet
, vol.22
, pp. 1746-1754
-
-
Buysse, K.1
Riemersma, M.2
Powell, G.3
-
40
-
-
67749098053
-
Tumor suppressor function of lamininbinding alpha-dystroglycan requires a distinct beta3-N-acetylglucosaminyltransferase
-
Bao X, Kobayashi M, Hatakeyama S et al (2009) Tumor suppressor function of lamininbinding alpha-dystroglycan requires a distinct beta3-N-acetylglucosaminyltransferase. Proc Natl Acad Sci U S A 106: 12109-12114
-
(2009)
Proc Natl Acad Sci U S A
, vol.106
, pp. 12109-12114
-
-
Bao, X.1
Kobayashi, M.2
Hatakeyama, S.3
-
41
-
-
85001799433
-
The glucuronyltransferase B4GAT1 is required for initiation of LARGE-mediated α-dystroglycan functional glycosylation
-
(in press)
-
Willer T, Inamori KI, Venzke D et al (2014) The glucuronyltransferase B4GAT1 is required for initiation of LARGE-mediated α-dystroglycan functional glycosylation. Elife (in press). doi: 10.7554/eLife.03941
-
(2014)
Elife
-
-
Willer, T.1
Inamori, K.I.2
Venzke, D.3
-
42
-
-
85016162643
-
B4GAT1 is the priming enzyme for the LARGEdependent functional glycosylation of α-dystroglycan
-
(in press)
-
Praissman JL, Live DH, Wang S et al (2014) B4GAT1 is the priming enzyme for the LARGEdependent functional glycosylation of α-dystroglycan. Elife (in press). doi: 10.7554/eLife.03943
-
(2014)
Elife
-
-
Praissman, J.L.1
Live, D.H.2
Wang, S.3
-
43
-
-
0032560851
-
An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy
-
Kobayashi K, Nakahori Y, Miyake M et al (1998) An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature 394: 388-392
-
(1998)
Nature
, vol.394
, pp. 388-392
-
-
Kobayashi, K.1
Nakahori, Y.2
Miyake, M.3
-
44
-
-
84858061102
-
Mislocalization of fukutin protein by diseasecausing missense mutations can be rescued with treatments directed at folding amelioration
-
Tachikawa M, Kanagawa M, Yu CC et al (2012) Mislocalization of fukutin protein by diseasecausing missense mutations can be rescued with treatments directed at folding amelioration. J Biol Chem 287: 8398-8406
-
(2012)
J Biol Chem
, vol.287
, pp. 8398-8406
-
-
Tachikawa, M.1
Kanagawa, M.2
Yu, C.C.3
-
45
-
-
0033581949
-
The fukutin protein family - predicted enzymes modifying cellsurface molecules
-
Aravind L, Koonin EV (1999) The fukutin protein family - predicted enzymes modifying cellsurface molecules. Curr Biol 9: R836-R837
-
(1999)
Curr Biol
, vol.9
, pp. R836-R837
-
-
Aravind, L.1
Koonin, E.V.2
-
46
-
-
75749143511
-
Comprehensive classification of nucleotidyltransferase fold proteins: Identification of novel families and their representatives in human
-
Kuchta K, Knizewski L, Wyrwicz LS et al (2009) Comprehensive classification of nucleotidyltransferase fold proteins: identification of novel families and their representatives in human. Nucleic Acids Res 37: 7701-7714
-
(2009)
Nucleic Acids Res
, vol.37
, pp. 7701-7714
-
-
Kuchta, K.1
Knizewski, L.2
Wyrwicz, L.S.3
-
47
-
-
84870935092
-
Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly
-
Vuillaumier-Barrot S, Bouchet-Séraphin C, Chelbi M et al (2012) Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. Am J Hum Genet 91: 1135-1143
-
(2012)
Am J Hum Genet
, vol.91
, pp. 1135-1143
-
-
Vuillaumier-Barrot, S.1
Bouchet-Séraphin, C.2
Chelbi, M.3
-
48
-
-
84860322514
-
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan
-
Roscioli T, Kamsteeg EJ, Buysse K et al (2012) Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan. Nat Genet 44: 581-585
-
(2012)
Nat Genet
, vol.44
, pp. 581-585
-
-
Roscioli, T.1
Kamsteeg, E.J.2
Buysse, K.3
-
49
-
-
84860348118
-
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome
-
Willer T, Lee H, Lommel M et al (2012) ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. Nat Genet 44: 575-580
-
(2012)
Nat Genet
, vol.44
, pp. 575-580
-
-
Willer, T.1
Lee, H.2
Lommel, M.3
-
50
-
-
84885421942
-
Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy
-
Yang AC, Ng BG, Moore SA et al (2013) Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy. Mol Genet Metab 110: 345-351
-
(2013)
Mol Genet Metab
, vol.110
, pp. 345-351
-
-
Yang, A.C.1
Ng, B.G.2
Moore, S.A.3
-
51
-
-
84867904131
-
DPM2-CDG: A muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy
-
Barone R, Aiello C, Race V et al (2012) DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. Ann Neurol 72: 550-558
-
(2012)
Ann Neurol
, vol.72
, pp. 550-558
-
-
Barone, R.1
Aiello, C.2
Race, V.3
-
52
-
-
67649584051
-
Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies
-
Lefeber DJ, Schönberger J, Morava E et al (2009) Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies. Am J Hum Genet 85: 76-86
-
(2009)
Am J Hum Genet
, vol.85
, pp. 76-86
-
-
Lefeber, D.J.1
Schönberger, J.2
Morava, E.3
-
53
-
-
84855283452
-
Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation
-
Lefeber DJ, de Brouwer AP, Morava E et al (2011) Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation. PLoS Genet 7, e1002427
-
(2011)
PLoS Genet
, vol.7
, pp. e1002427
-
-
Lefeber, D.J.1
de Brouwer, A.P.2
Morava, E.3
-
54
-
-
84880285119
-
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan
-
Carss KJ, Stevens E, Foley AR et al (2013) Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan. Am J Hum Genet 93: 29-41
-
(2013)
Am J Hum Genet
, vol.93
, pp. 29-41
-
-
Carss, K.J.1
Stevens, E.2
Foley, A.R.3
-
55
-
-
0027275643
-
A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin
-
Ervasti JM, Campbell KP (1993) A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin. J Cell Biol 122: 809-823
-
(1993)
J Cell Biol
, vol.122
, pp. 809-823
-
-
Ervasti, J.M.1
Campbell, K.P.2
-
56
-
-
0033557707
-
Binding of the G domains of laminin alpha1 and alpha2 chains and perlecan to heparin, sulfatides, alpha-dystroglycan and several extracellular matrix proteins
-
Talts JF, Andac Z, Göhring W et al (1999) Binding of the G domains of laminin alpha1 and alpha2 chains and perlecan to heparin, sulfatides, alpha-dystroglycan and several extracellular matrix proteins. EMBO J 18: 863-870
-
(1999)
EMBO J
, vol.18
, pp. 863-870
-
-
Talts, J.F.1
Andac, Z.2
Göhring, W.3
-
57
-
-
12144286984
-
Molecular dissection of the alpha-dystroglycan- and integrin-binding sites within the globular domain of human laminin-10
-
Ido H, Harada K, Futaki S et al (2004) Molecular dissection of the alpha-dystroglycan- and integrin-binding sites within the globular domain of human laminin-10. J Biol Chem 279: 10946-10954
-
(2004)
J Biol Chem
, vol.279
, pp. 10946-10954
-
-
Ido, H.1
Harada, K.2
Futaki, S.3
-
58
-
-
67449088153
-
The synaptic CT carbohydrate modulates binding and expression of extracellular matrix proteins in skeletal muscle: Partial dependence on utrophin
-
Yoon JH, Chandrasekharan K, Xu R et al (2009) The synaptic CT carbohydrate modulates binding and expression of extracellular matrix proteins in skeletal muscle: partial dependence on utrophin. Mol Cell Neurosci 41: 448-463
-
(2009)
Mol Cell Neurosci
, vol.41
, pp. 448-463
-
-
Yoon, J.H.1
Chandrasekharan, K.2
Xu, R.3
-
59
-
-
0028178082
-
Dystroglycan-alpha, a dystrophinassociated glycoprotein, is a functional agrin receptor
-
Gee SH, Montanaro F, Lindenbaum MH et al (1994) Dystroglycan-alpha, a dystrophinassociated glycoprotein, is a functional agrin receptor. Cell 77: 675-686
-
(1994)
Cell
, vol.77
, pp. 675-686
-
-
Gee, S.H.1
Montanaro, F.2
Lindenbaum, M.H.3
-
60
-
-
0028321841
-
Identification and purification of an agrin receptor from Torpedo postsynaptic membranes: A heteromeric complex related to the dystroglycans
-
Bowe MA, Deyst KA, Leszyk JD et al (1994) Identification and purification of an agrin receptor from Torpedo postsynaptic membranes: a heteromeric complex related to the dystroglycans. Neuron 12: 1173-1180
-
(1994)
Neuron
, vol.12
, pp. 1173-1180
-
-
Bowe, M.A.1
Deyst, K.A.2
Leszyk, J.D.3
-
61
-
-
0031770342
-
The relationship between perlecan and dystroglycan and its implication in the formation of the neuromuscular junction
-
Peng HB, Ali AA, Daggett DF et al (1998) The relationship between perlecan and dystroglycan and its implication in the formation of the neuromuscular junction. Cell Adhes Commun 5: 475-489
-
(1998)
Cell Adhes Commun
, vol.5
, pp. 475-489
-
-
Peng, H.B.1
Ali, A.A.2
Daggett, D.F.3
-
62
-
-
0035939672
-
A stoichiometric complex of neurexins and dystroglycan in brain
-
Sugita S, Saito F, Tang J et al (2001) A stoichiometric complex of neurexins and dystroglycan in brain. J Cell Biol 154: 435-445
-
(2001)
J Cell Biol
, vol.154
, pp. 435-445
-
-
Sugita, S.1
Saito, F.2
Tang, J.3
-
63
-
-
48149109425
-
Pikachurin, a dystroglycan ligand, is essential for photoreceptor ribbon synapse formation
-
Sato S, Omori Y, Katoh K et al (2008) Pikachurin, a dystroglycan ligand, is essential for photoreceptor ribbon synapse formation. Nat Neurosci 11: 923-931
-
(2008)
Nat Neurosci
, vol.11
, pp. 923-931
-
-
Sato, S.1
Omori, Y.2
Katoh, K.3
-
64
-
-
84872696903
-
Dystroglycan organizes axon guidance cue localization and axonal pathfinding
-
Wright KM, Lyon KA, Leung H et al (2012) Dystroglycan organizes axon guidance cue localization and axonal pathfinding. Neuron 76: 931-944
-
(2012)
Neuron
, vol.76
, pp. 931-944
-
-
Wright, K.M.1
Lyon, K.A.2
Leung, H.3
-
65
-
-
84861222127
-
Basement membranes: Cell scaffoldings and signaling platforms
-
Yurchenco PD (2011) Basement membranes: cell scaffoldings and signaling platforms. Cold Spring Harb Perspect Biol 3: a004911
-
(2011)
Cold Spring Harb Perspect Biol
, vol.3
, pp. a004911
-
-
Yurchenco, P.D.1
-
66
-
-
80053912306
-
Role of extracellular matrix proteins and their receptors in the development of the vertebrate neuromuscular junction
-
Singhal N, Martin PT (2011) Role of extracellular matrix proteins and their receptors in the development of the vertebrate neuromuscular junction. Dev Neurobiol 71: 982-1005
-
(2011)
Dev Neurobiol
, vol.71
, pp. 982-1005
-
-
Singhal, N.1
Martin, P.T.2
-
67
-
-
0035837298
-
Dystroglycan distribution in adult mouse brain: A light and electron microscopy study
-
Zaccaria ML, Di Tommaso F, Brancaccio A et al (2001) Dystroglycan distribution in adult mouse brain: a light and electron microscopy study. Neuroscience 104: 311-324
-
(2001)
Neuroscience
, vol.104
, pp. 311-324
-
-
Zaccaria, M.L.1
Di Tommaso, F.2
Brancaccio, A.3
-
68
-
-
77957810262
-
Post-translational maturation of dystroglycan is necessary for pikachurin binding and ribbon synaptic localization
-
Kanagawa M, Omori Y, Sato S et al (2010) Post-translational maturation of dystroglycan is necessary for pikachurin binding and ribbon synaptic localization. J Biol Chem 285: 31208-31216
-
(2010)
J Biol Chem
, vol.285
, pp. 31208-31216
-
-
Kanagawa, M.1
Omori, Y.2
Sato, S.3
-
69
-
-
4644252932
-
Targeted disruption of the Walker-Warburg syndrome gene Pomt1 in mouse results in embryonic lethality
-
Willer T, Prados B, Falcón-Pérez JM et al (2004) Targeted disruption of the Walker-Warburg syndrome gene Pomt1 in mouse results in embryonic lethality. Proc Natl Acad Sci U S A 101: 14126-14131
-
(2004)
Proc Natl Acad Sci U S A
, vol.101
, pp. 14126-14131
-
-
Willer, T.1
Prados, B.2
Falcón-Pérez, J.M.3
-
70
-
-
17444365843
-
Basement membrane fragility underlies embryonic lethality in fukutin-null mice
-
Kurahashi H, Taniguchi M, Meno C et al (2005) Basement membrane fragility underlies embryonic lethality in fukutin-null mice. Neurobiol Dis 19: 208-217
-
(2005)
Neurobiol Dis
, vol.19
, pp. 208-217
-
-
Kurahashi, H.1
Taniguchi, M.2
Meno, C.3
-
71
-
-
84888236335
-
AGO61-dependent GlcNAc modification primes the formation of functional glycans on α-dystroglycan
-
Yagi H, Nakagawa N, Saito T et al (2013) AGO61-dependent GlcNAc modification primes the formation of functional glycans on α-dystroglycan. Sci Rep 3: 3288
-
(2013)
Sci Rep
, vol.3
, pp. 3288
-
-
Yagi, H.1
Nakagawa, N.2
Saito, T.3
-
72
-
-
33645971589
-
A genetic model for muscle-eye-brain disease in mice lacking protein O-mannose 1,2-N-acetylglucosaminyltransferase (POMGnT1)
-
Liu J, Ball SL, Yang Y et al (2006) A genetic model for muscle-eye-brain disease in mice lacking protein O-mannose 1,2-N-acetylglucosaminyltransferase (POMGnT1). Mech Dev 123: 228-240
-
(2006)
Mech Dev
, vol.123
, pp. 228-240
-
-
Liu, J.1
Ball, S.L.2
Yang, Y.3
-
73
-
-
59849123266
-
Reduced proliferative activity of primary POMGnT1-null myoblasts in vitro
-
Miyagoe-Suzuki Y, Masubuchi N, Miyamoto K et al (2009) Reduced proliferative activity of primary POMGnT1-null myoblasts in vitro. Mech Dev 126: 107-116
-
(2009)
Mech Dev
, vol.126
, pp. 107-116
-
-
Miyagoe-Suzuki, Y.1
Masubuchi, N.2
Miyamoto, K.3
-
74
-
-
10744230411
-
Fukutin is required for maintenance of muscle integrity, cortical histiogenesis and normal eye development
-
Takeda S, Kondo M, Sasaki J et al (2003) Fukutin is required for maintenance of muscle integrity, cortical histiogenesis and normal eye development. Hum Mol Genet 12: 1449-1459
-
(2003)
Hum Mol Genet
, vol.12
, pp. 1449-1459
-
-
Takeda, S.1
Kondo, M.2
Sasaki, J.3
-
75
-
-
58949104792
-
Residual laminin-binding activity and enhanced dystroglycan glycosylation by LARGE in novel model mice to dystroglycanopathy
-
Kanagawa M, Nishimoto A, Chiyonobu T et al (2009) Residual laminin-binding activity and enhanced dystroglycan glycosylation by LARGE in novel model mice to dystroglycanopathy. Hum Mol Genet 18: 621-631
-
(2009)
Hum Mol Genet
, vol.18
, pp. 621-631
-
-
Kanagawa, M.1
Nishimoto, A.2
Chiyonobu, T.3
-
76
-
-
84865975467
-
Mouse fukutin deletion impairs dystroglycan processing and recapitulates muscular dystrophy
-
Beedle AM, Turner AJ, Saito Y et al (2012) Mouse fukutin deletion impairs dystroglycan processing and recapitulates muscular dystrophy. J Clin Invest 122: 3330-3342
-
(2012)
J Clin Invest
, vol.122
, pp. 3330-3342
-
-
Beedle, A.M.1
Turner, A.J.2
Saito, Y.3
-
77
-
-
84880256175
-
Impaired viability of muscle precursor cells in muscular dystrophy with glycosylation defects and amelioration of its severe phenotype by limited gene expression
-
Kanagawa M, Yu CC, Ito C et al (2013) Impaired viability of muscle precursor cells in muscular dystrophy with glycosylation defects and amelioration of its severe phenotype by limited gene expression. Hum Mol Genet 22: 3003-3015
-
(2013)
Hum Mol Genet
, vol.22
, pp. 3003-3015
-
-
Kanagawa, M.1
Yu, C.C.2
Ito, C.3
-
78
-
-
77957742104
-
Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies
-
Chan YM, Keramaris-Vrantsis E, Lidov HG et al (2010) Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies. Hum Mol Genet 19: 3995-4006
-
(2010)
Hum Mol Genet
, vol.19
, pp. 3995-4006
-
-
Chan, Y.M.1
Keramaris-Vrantsis, E.2
Lidov, H.G.3
-
79
-
-
60149086623
-
Reduced expression of fukutin related protein in mice results in a model for fukutin related protein associated muscular dystrophies
-
Ackroyd MR, Skordis L, Kaluarachchi M et al (2009) Reduced expression of fukutin related protein in mice results in a model for fukutin related protein associated muscular dystrophies. Brain 132: 439-451
-
(2009)
Brain
, vol.132
, pp. 439-451
-
-
Ackroyd, M.R.1
Skordis, L.2
Kaluarachchi, M.3
-
80
-
-
79953138207
-
Conditional knockout of protein O-mannosyltransferase 2 reveals tissue-specific roles of O-mannosyl glycosylation in brain development
-
Hu H, Li J, Gagen CS et al (2011) Conditional knockout of protein O-mannosyltransferase 2 reveals tissue-specific roles of O-mannosyl glycosylation in brain development. J Comp Neurol 519: 1320-1337
-
(2011)
J Comp Neurol
, vol.519
, pp. 1320-1337
-
-
Hu, H.1
Li, J.2
Gagen, C.S.3
-
81
-
-
0036799939
-
Skeletal, cardiac and tongue muscle pathology, defective retinal transmission, and neuronal migration defects in the Large (myd) mouse defines a natural model for glycosylation-deficient muscle-eye-brain disorders
-
Holzfeind PJ, Grewal PK, Reitsamer HA et al (2002) Skeletal, cardiac and tongue muscle pathology, defective retinal transmission, and neuronal migration defects in the Large (myd) mouse defines a natural model for glycosylation-deficient muscle-eye-brain disorders. Hum Mol Genet 11: 2673-2687
-
(2002)
Hum Mol Genet
, vol.11
, pp. 2673-2687
-
-
Holzfeind, P.J.1
Grewal, P.K.2
Reitsamer, H.A.3
-
82
-
-
69149093522
-
Basal lamina strengthens cell membrane integrity via the laminin G domain-binding motif of alpha-dystroglycan
-
Han R, Kanagawa M, Yoshida-Moriguchi T et al (2009) Basal lamina strengthens cell membrane integrity via the laminin G domain-binding motif of alpha-dystroglycan. Proc Natl Acad Sci U S A 106: 12573-12579
-
(2009)
Proc Natl Acad Sci U S A
, vol.106
, pp. 12573-12579
-
-
Han, R.1
Kanagawa, M.2
Yoshida-Moriguchi, T.3
-
83
-
-
33645806539
-
Aberrant neuromuscular junctions and delayed terminal muscle fiber maturation in alpha-dystroglycanopathies
-
Taniguchi M, Kurahashi H, Noguchi S et al (2006) Aberrant neuromuscular junctions and delayed terminal muscle fiber maturation in alpha-dystroglycanopathies. Hum Mol Genet 15: 1279-1289
-
(2006)
Hum Mol Genet
, vol.15
, pp. 1279-1289
-
-
Taniguchi, M.1
Kurahashi, H.2
Noguchi, S.3
-
84
-
-
0030031292
-
Are breaches in the glia limitans the primary cause of the micropolygyria in Fukuyama-type congenital muscular dystrophy (FCMD)? Pathological study of the cerebral cortex of an FCMD fetus
-
Nakano I, FunahashiM, Takada K et al (1996) Are breaches in the glia limitans the primary cause of the micropolygyria in Fukuyama-type congenital muscular dystrophy (FCMD)? Pathological study of the cerebral cortex of an FCMD fetus. Acta Neuropathol 91: 313-321
-
(1996)
Acta Neuropathol
, vol.91
, pp. 313-321
-
-
Nakano, I.1
Funahashi, M.2
Takada, K.3
-
85
-
-
0037173629
-
Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy
-
Moore SA, Saito F, Chen J et al (2002) Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy. Nature 418: 422-425
-
(2002)
Nature
, vol.418
, pp. 422-425
-
-
Moore, S.A.1
Saito, F.2
Chen, J.3
-
86
-
-
84870851067
-
Dystroglycan on radial glia end feet is required for pial basement membrane integrity and columnar organization of the developing cerebral cortex
-
Myshrall TD, Moore SA, Ostendorf AP et al (2012) Dystroglycan on radial glia end feet is required for pial basement membrane integrity and columnar organization of the developing cerebral cortex. J Neuropathol Exp Neurol 71: 1047-1063
-
(2012)
J Neuropathol Exp Neurol
, vol.71
, pp. 1047-1063
-
-
Myshrall, T.D.1
Moore, S.A.2
Ostendorf, A.P.3
-
87
-
-
78049328241
-
Distinct functions of glial and neuronal dystroglycan in the developing and adult mouse brain
-
Satz JS, Ostendorf AP, Hou S et al (2010) Distinct functions of glial and neuronal dystroglycan in the developing and adult mouse brain. J Neurosci 30: 14560-14572
-
(2010)
J Neurosci
, vol.30
, pp. 14560-14572
-
-
Satz, J.S.1
Ostendorf, A.P.2
Hou, S.3
-
88
-
-
84875465831
-
Adeno-associated viral-mediated LARGE gene therapy rescues the muscular dystrophic phenotype in mouse models of dystroglycanopathy
-
Yu M, He Y, Wang K et al (2013) Adeno-associated viral-mediated LARGE gene therapy rescues the muscular dystrophic phenotype in mouse models of dystroglycanopathy. Hum Gene Ther 24: 317-330
-
(2013)
Hum Gene Ther
, vol.24
, pp. 317-330
-
-
Yu, M.1
He, Y.2
Wang, K.3
-
89
-
-
84885021202
-
Adeno-associated virus 9 mediated FKRP gene therapy restores functional glycosylation of α-dystroglycan and improves muscle functions
-
Xu L, Lu PJ, Wang CH et al (2013) Adeno-associated virus 9 mediated FKRP gene therapy restores functional glycosylation of α-dystroglycan and improves muscle functions. Mol Ther 21: 1832-1840
-
(2013)
Mol Ther
, vol.21
, pp. 1832-1840
-
-
Xu, L.1
Lu, P.J.2
Wang, C.H.3
-
90
-
-
84902588556
-
Adeno-associated virus-mediated overexpression of LARGE rescues α-dystroglycan function in dystrophic mice with mutations in the fukutinrelated protein
-
Vannoy CH, Xu L, Keramaris E et al (2014) Adeno-associated virus-mediated overexpression of LARGE rescues α-dystroglycan function in dystrophic mice with mutations in the fukutinrelated protein. Hum Gene Ther Methods 25: 187-196
-
(2014)
Hum Gene Ther Methods
, vol.25
, pp. 187-196
-
-
Vannoy, C.H.1
Xu, L.2
Keramaris, E.3
-
91
-
-
84921315075
-
The transgenic expression of LARGE exacerbates the muscle phenotype of dystroglycanopathy mice
-
Whitmore C, Fernandez-Fuente M, Booler H et al (2014) The transgenic expression of LARGE exacerbates the muscle phenotype of dystroglycanopathy mice. Hum Mol Genet 23: 1842-1855
-
(2014)
Hum Mol Genet
, vol.23
, pp. 1842-1855
-
-
Whitmore, C.1
Fernandez-Fuente, M.2
Booler, H.3
-
92
-
-
84905668632
-
Overexpression of LARGE suppresses muscle regeneration via down-regulation of insulin-like growth factor 1 and aggravates muscular dystrophy in mice
-
Saito F, Kanagawa M, Ikeda M et al (2014) Overexpression of LARGE suppresses muscle regeneration via down-regulation of insulin-like growth factor 1 and aggravates muscular dystrophy in mice. Hum Mol Genet 23: 4543-4558
-
(2014)
Hum Mol Genet
, vol.23
, pp. 4543-4558
-
-
Saito, F.1
Kanagawa, M.2
Ikeda, M.3
-
93
-
-
80053898946
-
Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy
-
Taniguchi-Ikeda M, Kobayashi K, Kanagawa M et al (2011) Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy. Nature 478: 127-131
-
(2011)
Nature
, vol.478
, pp. 127-131
-
-
Taniguchi-Ikeda, M.1
Kobayashi, K.2
Kanagawa, M.3
|