-
1
-
-
0021972775
-
Syndromes with lissencephaly. II. Walker-Warburg and cerebro-oculo- muscular syndromes and a new syndrome with type II lissencephaly
-
DOI 10.1002/ajmg.1320220118
-
Dobyns, W. B., Kirkpatrick, J. B., Hittner, H. M., Roberts, R. M., and Kretzer, F. L. (1985) Syndromes with lissencephaly. II. Walker-Warburg and cerebro-oculo-muscular syndromes and a new syndrome with type II lissencephaly. Am. J. Med. Genet. 22, 157-195 (Pubitemid 15243635)
-
(1985)
American Journal of Medical Genetics
, vol.22
, Issue.1
, pp. 157-195
-
-
Dobyns, W.B.1
Kirkpatrick, J.B.2
Hittner, H.M.3
-
2
-
-
0035067350
-
Cell migration and cerebral cortical development
-
Golden, J. A. (2001) Cell migration and cerebral cortical development. Neuropathol. Appl. Neurobiol. 27, 22-28
-
(2001)
Neuropathol. Appl. Neurobiol.
, vol.27
, pp. 22-28
-
-
Golden, J.A.1
-
3
-
-
0031044984
-
Muscle-eye-brain disease. A neuropathological study
-
Haltia, M., Leivo, I., Somer, H., Pihko, H., Paetau, A., Kivelä, T., Tarkkanen, A., Tom, F., Engvall, E., and Santavuori, P. (1997) Muscle-eye-brain disease. A neuropathological study. Ann. Neurol. 41, 173-180
-
(1997)
Ann. Neurol.
, vol.41
, pp. 173-180
-
-
Haltia, M.1
Leivo, I.2
Somer, H.3
Pihko, H.4
Paetau, A.5
Kivelä, T.6
Tarkkanen, A.7
Tom, F.8
Engvall, E.9
Santavuori, P.10
-
4
-
-
18544371603
-
Congenital muscular dystrophy: Molecular and cellular aspects
-
DOI 10.1007/s00018-004-4510-4
-
Jimenez-Mallebrera, C., Brown, S. C., Sewry, C. A., and Muntoni, F. (2005) Congenital muscular dystrophy. Molecular and cellular aspects. Cell. Mol. Life Sci. 62, 809-823 (Pubitemid 40655631)
-
(2005)
Cellular and Molecular Life Sciences
, vol.62
, Issue.7-8
, pp. 809-823
-
-
Jimenez-Mallebrera, C.1
Brown, S.C.2
Sewry, C.A.3
Muntoni, F.4
-
5
-
-
33751016367
-
Cerebral developmental disorders
-
DOI 10.1097/MOP.0b013e328010542d, PII 0000848020061200000005
-
Lian, G., and Sheen, V. (2006) Cerebral developmental disorders. Curr. Opin. Pediatr. 18, 614-620 (Pubitemid 44747153)
-
(2006)
Current Opinion in Pediatrics
, vol.18
, Issue.6
, pp. 614-620
-
-
Lian, G.1
Sheen, V.2
-
6
-
-
0029126906
-
Congenital muscular dystrophies. Clinical review and proposed classification
-
Parano, E., Pavone, L., Fiumara, A., Falsaperla, R., Trifiletti, R. R., and Dobyns, W. B. (1995) Congenital muscular dystrophies. Clinical review and proposed classification. Pediatr. Neurol. 13, 97-103
-
(1995)
Pediatr. Neurol.
, vol.13
, pp. 97-103
-
-
Parano, E.1
Pavone, L.2
Fiumara, A.3
Falsaperla, R.4
Trifiletti, R.R.5
Dobyns, W.B.6
-
7
-
-
0034940174
-
Human brain malformations and their lessons for neuronal migration
-
DOI 10.1146/annurev.neuro.24.1.1041
-
Ross, M. E., and Walsh, C. A. (2001) Human brain malformations and their lessons for neuronal migration. Annu. Rev. Neurosci. 24, 1041-1070 (Pubitemid 32695253)
-
(2001)
Annual Review of Neuroscience
, vol.24
, pp. 1041-1070
-
-
Ross, M.E.1
Walsh, C.A.2
-
8
-
-
0030837406
-
Magnetic resonance imaging in classification of congenital muscular dystrophies with brain abnormalities
-
DOI 10.1002/ana.410420110
-
van der Knaap, M. S., Smit, L. M., Barth, P. G., Catsman-Berrevoets, C. E., Brouwer, O. F., Begeer, J. H., de Coo, I. F., and Valk, J. (1997) Magnetic resonance imaging in classification of congenital muscular dystrophies with brain abnormalities. Ann. Neurol. 42, 50-59 (Pubitemid 27304780)
-
(1997)
Annals of Neurology
, vol.42
, Issue.1
, pp. 50-59
-
-
Van Der, K.M.S.1
Smit, L.M.E.2
Barth, P.G.3
Catsman-Berrevoets, C.E.4
Brouwer, O.F.5
Begeer, J.H.6
De Coo, I.F.M.7
Valk, J.8
-
9
-
-
0034975777
-
Mutant glycosyltransferase and altered glycosylation of α-dystroglycan in the myodystrophy mouse
-
DOI 10.1038/88865
-
Grewal, P. K., Holzfeind, P. J., Bittner, R. E., and Hewitt, J. E. (2001) Mutant glycosyltransferase and altered glycosylation of α-dystroglycan in the myodystrophy mouse. Nat. Genet. 28, 151-154 (Pubitemid 32538060)
-
(2001)
Nature Genetics
, vol.28
, Issue.2
, pp. 151-154
-
-
Grewal, P.K.1
Holzfeind, P.J.2
Bittner, R.E.3
Hewitt, J.E.4
-
10
-
-
0037173670
-
Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies
-
DOI 10.1038/nature00837
-
Michele, D. E., Barresi, R., Kanagawa, M., Saito, F., Cohn, R. D., Satz, J. S., Dollar, J., Nishino, I., Kelley, R. I., Somer, H., Straub, V., Mathews, K. D., Moore, S. A., and Campbell, K. P. (2002) Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies. Nature 418, 417-422 (Pubitemid 34826841)
-
(2002)
Nature
, vol.418
, Issue.6896
, pp. 417-422
-
-
Michele, D.E.1
Barresi, R.2
Kanagawa, M.3
Salto, F.4
Cohn, R.D.5
Satz, J.S.6
Dollar, J.7
Nishino, I.8
Kelley, R.I.9
Somer, H.10
Straub, V.11
Mathews, K.D.12
Moore, S.A.13
Campbell, K.P.14
-
11
-
-
10744230411
-
Fukutin is required for maintenance of muscle integrity, cortical histiogenesis and normal eye development
-
Takeda, S., Kondo, M., Sasaki, J., Kurahashi, H., Kano, H., Arai, K., Misaki, K., Fukui, T., Kobayashi, K., Tachikawa, M., Imamura, M., Nakamura, Y., Shimizu, T., Murakami, T., Sunada, Y., Fujikado, T., Matsumura, K., Terashima, T., and Toda, T. (2003) Fukutin is required for maintenance of muscle integrity, cortical histogenesis, and normal eye development. Hum. Mol. Genet. 12, 1449-1459 (Pubitemid 36758457)
-
(2003)
Human Molecular Genetics
, vol.12
, Issue.12
, pp. 1449-1459
-
-
Takeda, S.1
Kondo, M.2
Sasaki, J.3
Kurahashi, H.4
Kano, H.5
Arai, K.6
Misaki, K.7
Fukui, T.8
Kobayashi, K.9
Tachikawa, M.10
Imamura, M.11
Nakamura, Y.12
Shimizu, T.13
Murakami, T.14
Sunada, Y.15
Fujikado, T.16
Matsumura, K.17
Terashima, T.18
Toda, T.19
-
12
-
-
0033179169
-
High prevalence of 2-mono- and 2,6-di-substituted manol-terminating sequences among O-glycans released from brain glycopeptides by reductive alkaline hydrolysis
-
DOI 10.1046/j.1432-1327.1999.00572.x
-
Chai, W., Yuen, C. T., Kogelberg, H., Carruthers, R. A., Margolis, R. U., Feizi, T., and Lawson, A. M. (1999) High prevalence of 2-mono- and 2,6- di-substituted manol-terminating sequences among O-glycans released from brain glycopeptides by reductive alkaline hydrolysis. Eur. J. Biochem. 263, 879-888 (Pubitemid 29361963)
-
(1999)
European Journal of Biochemistry
, vol.263
, Issue.3
, pp. 879-888
-
-
Chai, W.1
Yuen, C.-T.2
Kogelberg, H.3
Carruthers, R.A.4
Margolis, R.U.5
Feizi, T.6
Lawson, A.M.7
-
13
-
-
0018801488
-
Novel mannitol-containing oligosaccharides obtained by mild alkaline borohydride treatment of a chondroitin sulfate proteoglycan from brain
-
Finne, J., Krusius, T., Margolis, R. K., and Margolis, R. U. (1979) Novel mannitol-containing oligosaccharides obtained by mild alkaline borohydride treatment of a chondroitin sulfate proteoglycan from brain. J. Biol. Chem. 254, 10295-10300
-
(1979)
J. Biol. Chem.
, vol.254
, pp. 10295-10300
-
-
Finne, J.1
Krusius, T.2
Margolis, R.K.3
Margolis, R.U.4
-
14
-
-
0035938064
-
NMR studies of mannitol-terminating oligosaccharides derived by reductive alkaline hydrolysis from brain glycoproteins
-
DOI 10.1016/S0008-6215(01)00051-9, PII S0008621501000519
-
Kogelberg, H., Chai, W., Feizi, T., and Lawson, A. M. (2001) NMR studies of mannitol-terminating oligosaccharides derived by reductive alkaline hydrolysis from brain glycoproteins. Carbohydr. Res. 331, 393-401 (Pubitemid 32452183)
-
(2001)
Carbohydrate Research
, vol.331
, Issue.4
, pp. 393-401
-
-
Kogelberg, H.1
Chai, W.2
Feizi, T.3
Lawson, A.M.4
-
15
-
-
0022993925
-
Identification of an O-glycosidic mannose-linked sialylated tetrasaccharide and keratan sulfate oligosaccharides in the chondroitin sulfate proteoglycan of brain
-
Krusius, T., Finne, J., Margolis, R. K., and Margolis, R. U. (1986) Identification of an O-glycosidic mannose-linked sialylated tetrasaccharide and keratan sulfate oligosaccharides in the chondroitin sulfate proteoglycan of brain. J. Biol. Chem. 261, 8237-8242 (Pubitemid 17202694)
-
(1986)
Journal of Biological Chemistry
, vol.261
, Issue.18
, pp. 8237-8242
-
-
Krusius, T.1
Finne, J.2
Margolis, R.K.3
Margolis, R.U.4
-
16
-
-
0038185363
-
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome
-
Beltrán-Valero de Bernabé, D., Currier, S., Steinbrecher, A., Celli, J., van Beusekom, E., van der Zwaag, B., Kayserili, H., Merlini, L., Chitayat, D., Dobyns, W. B., Cormand, B., Lehesjoki, A. E., Cruces, J., Voit, T., Walsh, C. A., van Bokhoven, H., and Brunner, H. G. (2002) Mutations in the O-mannosyltransferase 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
Celli, J.4
Van Beusekom, E.5
Van Der Zwaag, B.6
Kayserili, H.7
Merlini, L.8
Chitayat, D.9
Dobyns, W.B.10
Cormand, B.11
Lehesjoki, A.E.12
Cruces, J.13
Voit, T.14
Walsh, C.A.15
Van Bokhoven, H.16
Brunner, H.G.17
-
17
-
-
3042850663
-
Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome
-
Beltran-Valero de Bernabé, D., Voit, T., Longman, C., Steinbrecher, A., Straub, V., Yuva, Y., Herrmann, R., Sperner, J., Korenke, C., Diesen, C., Dobyns, W. B., Brunner, H. G., van Bokhoven, H., Brockington, M., and Muntoni, F. (2004) Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. J. Med. Genet. 41, e61
-
(2004)
J. Med. Genet.
, vol.41
-
-
Beltran-Valero De Bernabé, D.1
Voit, T.2
Longman, C.3
Steinbrecher, A.4
Straub, V.5
Yuva, Y.6
Herrmann, R.7
Sperner, J.8
Korenke, C.9
Diesen, C.10
Dobyns, W.B.11
Brunner, H.G.12
Van Bokhoven, H.13
Brockington, M.14
Muntoni, F.15
-
18
-
-
0035212037
-
Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin deficiency and abnormal glycosylation of α-dystroglycan
-
DOI 10.1086/324412
-
Brockington, M., Blake, D. J., Prandini, P., Brown, S. C., Torelli, S., Benson, M. A., Ponting, C. P., Estournet, B., Romero, N. B., Mercuri, E., Voit, T., Sewry, C. A., Guicheney, P., and Muntoni, F. (2001) Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin α2 deficiency and abnormal glycosylation of α-dystroglycan. Am. J. Hum. Genet. 69, 1198-1209 (Pubitemid 33124201)
-
(2001)
American Journal of Human Genetics
, vol.69
, Issue.6
, pp. 1198-1209
-
-
Brockington, M.1
Blake, D.J.2
Prandini, P.3
Brown, S.C.4
Torelli, S.5
Benson, M.A.6
Ponting, C.P.7
Estournet, B.8
Romero, N.B.9
Mercuri, E.10
Voit, T.11
Sewry, C.A.12
Guicheney, P.13
Muntoni, F.14
-
19
-
-
18244375299
-
Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 21 as a milder allelic variant of congenital muscular dystrophy MDC1C
-
Brockington, M., Yuva, Y., Prandini, P., Brown, S. C., Torelli, S., Benson, M. A., Herrmann, R., Anderson, L. V., Bashir, R., Burgunder, J. M., Fallet, S., Romero, N., Fardeau, M., Straub, V., Storey, G., Pollitt, C., Richard, I., Sewry, C. A., Bushby, K., Voit, T., Blake, D. J., and Muntoni, F. (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 (Pubitemid 34030916)
-
(2001)
Human Molecular Genetics
, vol.10
, Issue.25
, pp. 2851-2859
-
-
Brockington, M.1
Yuva, Y.2
Prandini, P.3
Brown, S.C.4
Torelli, S.5
Benson, M.A.6
Herrmann, R.7
Anderson, L.V.B.8
Bashir, R.9
Burgunder, J.-M.10
Fallet, S.11
Romero, N.12
Fardeau, M.13
Straub, V.14
Storey, G.15
Pollitt, C.16
Richard, I.17
Sewry, C.A.18
Bushby, K.19
Voit, T.20
Blake, D.J.21
Muntoni, F.22
more..
-
20
-
-
19944433864
-
Mutations in POMT1 are found in a minority of patients with walker-warburg syndrome
-
DOI 10.1002/ajmg.a.30487
-
Currier, S. C., Lee, C. K., Chang, B. S., Bodell, A. L., Pai, G. S., Job, L., Lagae, L. G., Al-Gazali, L. I., Eyaid, W. M., Enns, G., Dobyns, W. B., and Walsh, C. A. (2005) Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome. Am. J. Med. Genet. A 133, 53-57 (Pubitemid 40175565)
-
(2005)
American Journal of Medical Genetics
, vol.133 A
, Issue.1
, pp. 53-57
-
-
Currier, S.C.1
Lee, C.K.2
Chang, B.S.3
Bodell, A.L.4
Pai, G.S.5
Job, L.6
Lagae, L.G.7
Al-Gazali, L.I.8
Eyaid, W.M.9
Enns, G.10
Dobyns, W.B.11
Walsh, C.A.12
-
21
-
-
4243834586
-
A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype
-
de Bernabé, D. B., van Bokhoven, H., van Beusekom, E., Van den Akker, W., Kant, S., Dobyns, W. B., Cormand, B., Currier, S., Hamel, B., Talim, B., Topaloglu, H., and Brunner, H. G. (2003) A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype. J. Med. Genet. 40, 845-848
-
(2003)
J. Med. Genet.
, vol.40
, pp. 845-848
-
-
De Bernabé, D.B.1
Van Bokhoven, H.2
Van Beusekom, E.3
Van Den Akker, W.4
Kant, S.5
Dobyns, W.B.6
Cormand, B.7
Currier, S.8
Hamel, B.9
Talim, B.10
Topaloglu, H.11
Brunner, H.G.12
-
22
-
-
0032560851
-
An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy
-
DOI 10.1038/28653
-
Kobayashi, K., Nakahori, Y., Miyake, M., Matsumura, K., Kondo-Iida, E., Nomura, Y., Segawa, M., Yoshioka, M., Saito, K., Osawa, M., Hamano, K., Sakakihara, Y., Nonaka, I., Nakagome, Y., Kanazawa, I., Nakamura, Y., Tokunaga, K., and Toda, T. (1998) An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature 394, 388-392 (Pubitemid 28373837)
-
(1998)
Nature
, vol.394
, Issue.6691
, pp. 388-392
-
-
Kobayashi, K.1
Nakahori, Y.2
Miyake, M.3
Matsumura, K.4
Kondo-Iida, E.5
Nomura, Y.6
Segawa, M.7
Yoshioka, M.8
Saito, K.9
Osawa, M.10
Hamano, K.11
Sakakihara, Y.12
Nonaka, I.13
Nakagome, Y.14
Kanazawa, I.15
Nakamura, Y.16
Tokunaga, K.17
Toda, T.18
-
23
-
-
10744226857
-
Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of α-dystroglycan
-
DOI 10.1093/hmg/ddg307
-
Longman, C., Brockington, M., Torelli, S., Jimenez-Mallebrera, C., Kennedy, C., Khalil, N., Feng, L., Saran, R. K., Voit, T., Merlini, L., Sewry, C. A., Brown, S. C., and Muntoni, F. (2003) Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of α-dystroglycan. Hum. Mol. Genet. 12, 2853-2861 (Pubitemid 37407122)
-
(2003)
Human Molecular Genetics
, vol.12
, Issue.21
, pp. 2853-2861
-
-
Longman, C.1
Brockington, M.2
Torelli, S.3
Jimenez-Mallebrera, C.4
Kennedy, C.5
Khalil, N.6
Feng, L.7
Saran, R.K.8
Voit, T.9
Merlini, L.10
Sewry, C.A.11
Brown, S.C.12
Muntoni, F.13
-
24
-
-
15844409376
-
Glyc-Ogenetics of Walker-Warburg syndrome
-
van Reeuwijk, J., Brunner, H. G., and van Bokhoven, H. (2005) Glyc-Ogenetics of Walker-Warburg syndrome. Clin. Genet. 67, 281-289
-
(2005)
Clin. Genet.
, vol.67
, pp. 281-289
-
-
Van Reeuwijk, J.1
Brunner, H.G.2
Van Bokhoven, H.3
-
25
-
-
18044400450
-
Muscular Dystrophy and Neuronal Migration Disorder Caused by Mutations in a Glycosyltransferase, POMGnT1
-
DOI 10.1016/S1534-5807(01)00070-3, PII S1534580701000703
-
Yoshida, A., Kobayashi, K., Manya, H., Taniguchi, K., Kano, H., Mizuno, M., Inazu, T., Mitsuhashi, H., Takahashi, S., Takeuchi, M., Herrmann, R., Straub, V., Talim, B., Voit, T., Topaloglu, H., Toda, T., and Endo, T. (2001) Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. Dev. Cell 1, 717-724 (Pubitemid 33586123)
-
(2001)
Developmental Cell
, vol.1
, Issue.5
, pp. 717-724
-
-
Yoshida, A.1
Kobayashi, K.2
Manya, H.3
Taniguchi, K.4
Kano, H.5
Mizuno, M.6
Inazu, T.7
Mitsuhashi, H.8
Takahashi, S.9
Takeuchi, M.10
Herrmann, R.11
Straub, V.12
Talim, B.13
Voit, T.14
Topaloglu, H.15
Toda, T.16
Endo, T.17
-
26
-
-
84855515852
-
Dystroglycan function requires xylosyl- and glucuronyltransferase activities of LARGE
-
Inamori, K., Yoshida-Moriguchi, T., Hara, Y., Anderson, M. E., Yu, L., and Campbell, K. P. (2012) Dystroglycan function requires xylosyl- and 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
Anderson, M.E.4
Yu, L.5
Campbell, K.P.6
-
27
-
-
33745817404
-
Physical and functional association of human protein O- mannosyltransferases 1 and 2
-
DOI 10.1074/jbc.M601091200
-
Akasaka-Manya, K., Manya, H., Nakajima, A., Kawakita, M., and Endo, T. (2006) Physical and functional association of human protein O- mannosyltransferases 1 and 2. J. Biol. Chem. 281, 19339-19345 (Pubitemid 44035439)
-
(2006)
Journal of Biological Chemistry
, vol.281
, Issue.28
, pp. 19339-19345
-
-
Akasaka-Manya, K.1
Manya, H.2
Nakajima, A.3
Kawakita, M.4
Endo, T.5
-
28
-
-
16644403714
-
Defective O-mannosyl glycosylation causes congenital muscular dystrophies
-
Manya, H., and Endo, T. (2004) Defective O-mannosyl glycosylation causes congenital muscular dystrophies. Tanpakushitsu Kakusan Koso. 49, 2451-2456
-
(2004)
Tanpakushitsu Kakusan Koso.
, vol.49
, pp. 2451-2456
-
-
Manya, H.1
Endo, T.2
-
29
-
-
0036180849
-
Cloning and expression of a novel UDP-GlcNAc:α-D-mannoside β,2-N- acetylglucosaminyltransferase homologous to UDP-GlcNAc:α-3-D- mannoside β1,2-N-acetylglucosaminyltransferase I
-
DOI 10.1042/0264-6021:3610153
-
Zhang, W., Betel, D., and Schachter, H. (2002) Cloning and expression of a novel UDP-GlcNAc:α-D-mannoside β1,2-N-acetylglucosaminyltransferase homologous to UDP-GlcNAc:α-3-D-mannoside β1,2-N- acetylglucosaminyltransferase I. Biochem. J. 361, 153-162 (Pubitemid 34171420)
-
(2002)
Biochemical Journal
, vol.361
, Issue.1
, pp. 153-162
-
-
Zhang, W.1
Betel, D.2
Schachter, H.3
-
30
-
-
74849131820
-
O-Mannosyl phosphorylation of α-dystroglycan is required for laminin binding
-
Yoshida-Moriguchi, T., Yu, L., Stalnaker, S. H., Davis, S., Kunz, S., Madson, M., Oldstone, M. B., Schachter, H., Wells, L., and Campbell, K. P. (2010) O-Mannosyl phosphorylation of α-dystroglycan 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
Davis, S.4
Kunz, S.5
Madson, M.6
Oldstone, M.B.7
Schachter, H.8
Wells, L.9
Campbell, K.P.10
-
31
-
-
0025815479
-
Membrane organization of the dystrophin-glycoprotein complex
-
Ervasti, J. M., and Campbell, K. P. (1991) Membrane organization of the dystrophin-glycoprotein complex. Cell 66, 1121-1131 (Pubitemid 121001402)
-
(1991)
Cell
, vol.66
, Issue.6
, pp. 1121-1131
-
-
Ervasti, J.M.1
Campbell, K.P.2
-
32
-
-
0027275643
-
A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin
-
Ervasti, J. M., and Campbell, K. P. (1993) A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin. J. Cell Biol. 122, 809-823 (Pubitemid 23241091)
-
(1993)
Journal of Cell Biology
, vol.122
, Issue.4
, pp. 809-823
-
-
Ervasti, J.M.1
Campbell, K.P.2
-
33
-
-
0026543686
-
Primary structure of dystrophin- associated glycoproteins linking dystrophin to the extracellular matrix
-
Ibraghimov-Beskrovnaya, O., Ervasti, J. M., Leveille, C. J., Slaughter, C. A., Sernett, S. W., and Campbell, K. P. (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
Slaughter, C.A.4
Sernett, S.W.5
Campbell, K.P.6
-
34
-
-
0035252649
-
The complexities of dystroglycan
-
Winder, S. J. (2001) The complexities of dystroglycan. Trends Biochem. Sci. 26, 118-124
-
(2001)
Trends Biochem. Sci.
, vol.26
, pp. 118-124
-
-
Winder, S.J.1
-
35
-
-
0027321171
-
Laminin-binding protein 120 from brain is closely related to the dystrophin-associated glycoprotein, dystroglycan, and binds with high affinity to the major heparin binding domain of laminin
-
Gee, S. H., Blacher, R. W., Douville, P. J., Provost, P. R., Yurchenco, P. D., and Carbonetto, S. (1993) Laminin-binding protein 120 from brain is closely related to the dystrophin-associated glycoprotein, dystroglycan, and binds with high affinity to the major heparin binding domain of laminin. J. Biol. Chem. 268, 14972-14980 (Pubitemid 23206646)
-
(1993)
Journal of Biological Chemistry
, vol.268
, Issue.20
, pp. 14972-14980
-
-
Gee, S.H.1
Blacher, R.W.2
Douville, P.J.3
Provost, P.R.4
Yurchenco, P.D.5
Carbonetto, S.6
-
36
-
-
0033553906
-
α-Dystroglycan is a laminin receptor involved in extracellular matrix assembly on myotubes and muscle cell viability
-
Montanaro, F., Lindenbaum, M., and Carbonetto, S. (1999) α-Dystroglycan is a laminin receptor involved in extracellular matrix assembly on myotubes and muscle cell viability. J. Cell Biol. 145, 1325-1340
-
(1999)
J. Cell Biol.
, vol.145
, pp. 1325-1340
-
-
Montanaro, F.1
Lindenbaum, M.2
Carbonetto, S.3
-
37
-
-
0029072703
-
Purification of cranin, a lamininbinding membrane protein. Identity with dystroglycan and reassessment of its carbohydrate moieties
-
Smalheiser, N. R., and Kim, E. (1995) Purification of cranin, a lamininbinding membrane protein. Identity with dystroglycan and reassessment of its carbohydrate moieties. J. Biol. Chem. 270, 15425-15433
-
(1995)
J. Biol. Chem.
, vol.270
, pp. 15425-15433
-
-
Smalheiser, N.R.1
Kim, E.2
-
38
-
-
0027930113
-
Dystroglycan is a binding protein of laminin and merosin in peripheral nerve
-
DOI 10.1016/0014-5793(94)00917-1
-
Yamada, H., Shimizu, T., Tanaka, T., Campbell, K. P., and Matsumura, K. (1994) Dystroglycan is a binding protein of laminin and merosin in peripheral nerve. FEBS Lett. 352, 49-53 (Pubitemid 24291757)
-
(1994)
FEBS Letters
, vol.352
, Issue.1
, pp. 49-53
-
-
Yamada, H.1
-
39
-
-
0031026624
-
Structures of sialylated O-linked oligosaccharides of bovine peripheral nerve α-dystroglycan. The role of a novel O-mannosyl-type oligosaccharide in the binding of α-dystroglycan with laminin
-
DOI 10.1074/jbc.272.4.2156
-
Chiba, A., Matsumura, K., Yamada, H., Inazu, T., Shimizu, T., Kusunoki, S., Kanazawa, I., Kobata, A., and Endo, T. (1997) Structures of sialylated O-linked oligosaccharides of bovine peripheral nerve α-dystroglycan. The role of a novel O-mannosyl-type oligosaccharide in the binding of α-dystroglycan with laminin. J. Biol. Chem. 272, 2156-2162 (Pubitemid 27058494)
-
(1997)
Journal of Biological Chemistry
, vol.272
, Issue.4
, pp. 2156-2162
-
-
Chiba, A.1
Matsumura, K.2
Yamada, H.3
Inazu, T.4
Shimizu, T.5
Kusunoki, S.6
Kanazawa, I.7
Kobata, A.8
Endo, T.9
-
40
-
-
0031790636
-
Detection of O-mannosyl glycans in rabbit skeletal muscle α-dystroglycan
-
DOI 10.1016/S0304-4165(98)00114-7, PII S0304416598001147
-
Sasaki, T., Yamada, H., Matsumura, K., Shimizu, T., Kobata, A., and Endo, T. (1998) Detection of O-mannosyl glycans in rabbit skeletal muscle α-dystroglycan, Biochim. Biophys. Acta 1425, 599-606 (Pubitemid 28546694)
-
(1998)
Biochimica et Biophysica Acta - General Subjects
, vol.1425
, Issue.3
, pp. 599-606
-
-
Sasaki, T.1
Yamada, H.2
Matsumura, K.3
Shimizu, T.4
Kobata, A.5
Endo, T.6
-
41
-
-
0032508544
-
Structural analysis of sequences O-linked to mannose reveals a novel Lewis X structure in cranin (dystroglycan) purified from sheep brain
-
DOI 10.1074/jbc.273.37.23698
-
Smalheiser, N. R., Haslam, S. M., Sutton-Smith, M., Morris, H. R., and Dell, A. (1998) Structural analysis of sequences O-linked to mannose reveals a novel Lewis X structure in cranin (dystroglycan) purified from sheep brain. J. Biol. Chem. 273, 23698-23703 (Pubitemid 28435699)
-
(1998)
Journal of Biological Chemistry
, vol.273
, Issue.37
, pp. 23698-23703
-
-
Smalheiser, N.R.1
Haslam, S.M.2
Sutton-Smith, M.3
Morris, H.R.4
Dell, A.5
-
42
-
-
77955286333
-
Site mapping and characterization of O-glycan structures on α-dystroglycan isolated from rabbit skeletal muscle
-
Stalnaker, S. H., Hashmi, S., Lim, J. M., Aoki, K., Porterfield, M., Gutierrez- Sanchez, G., Wheeler, J., Ervasti, J. M., Bergmann, C., Tiemeyer, M., and Wells, L. (2010) Site mapping and characterization of O-glycan structures on α-dystroglycan isolated from rabbit skeletal muscle. J. Biol. Chem. 285, 24882-24891
-
(2010)
J. Biol. Chem.
, vol.285
, pp. 24882-24891
-
-
Stalnaker, S.H.1
Hashmi, S.2
Lim, J.M.3
Aoki, K.4
Porterfield, M.5
Gutierrez-Sanchez, G.6
Wheeler, J.7
Ervasti, J.M.8
Bergmann, C.9
Tiemeyer, M.10
Wells, L.11
-
43
-
-
77955440095
-
Characterization of site-specific O-glycan structures within the mucin-like domain of α-dystroglycan from human skeletal muscle
-
Nilsson, J., Nilsson, J., Larson, G., and Grahn, A. (2010) Characterization of site-specific O-glycan structures within the mucin-like domain of α-dystroglycan from human skeletal muscle. Glycobiology 20, 1160-1169
-
(2010)
Glycobiology
, vol.20
, pp. 1160-1169
-
-
Nilsson, J.1
Nilsson, J.2
Larson, G.3
Grahn, A.4
-
44
-
-
0036291325
-
Deficiency of α-dystroglycan in muscle-eye-brain disease
-
Kano, H., Kobayashi, K., Herrmann, R., Tachikawa, M., Manya, H., Nishino, I., Nonaka, I., Straub, V., Talim, B., Voit, T., Topaloglu, H., Endo, T., Yoshikawa, H., and Toda, T. (2002) Deficiency of α-dystroglycan in muscle-eye-brain 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
Tachikawa, M.4
Manya, H.5
Nishino, I.6
Nonaka, I.7
Straub, V.8
Talim, B.9
Voit, T.10
Topaloglu, H.11
Endo, T.12
Yoshikawa, H.13
Toda, T.14
-
45
-
-
12144286104
-
POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in α-DG
-
Kim, D. S., Hayashi, Y. K., Matsumoto, H., Ogawa, M., Noguchi, S., Murakami, N., Sakuta, R., Mochizuki, M., Michele, D. E., Campbell, K. P., Nonaka, I., and Nishino, I. (2004) POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in α-DG. Neurology 62, 1009-1011 (Pubitemid 38435801)
-
(2004)
Neurology
, vol.62
, Issue.6
, pp. 1009-1011
-
-
Kim, D.-S.1
Hayashi, Y.K.2
Matsumoto, H.3
Ogawa, M.4
Noguchi, S.5
Murakami, N.6
Sakuta, R.7
Mochizuki, M.8
Michele, D.E.9
Campbell, K.P.10
Nonaka, I.11
Nishino, I.12
-
46
-
-
33645971589
-
A genetic model for muscle-eye-brain disease in mice lacking protein O-mannose 1,2-N-acetylglucosaminyltransferase (POMGnT1)
-
Liu, J., Ball, S. L., Yang, Y., Mei, P., Zhang, L., Shi, H., Kaminski, H. J., Lemmon, V. P., and Hu, H. (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
Mei, P.4
Zhang, L.5
Shi, H.6
Kaminski, H.J.7
Lemmon, V.P.8
Hu, H.9
-
47
-
-
79958747454
-
Glycomic analyses of mouse models of congenital muscular dystrophy
-
Stalnaker, S. H., Aoki, K., Lim, J. M., Porterfield, M., Liu, M., Satz, J. S., Buskirk, S., Xiong, Y., Zhang, P., Campbell, K. P., Hu, H., Live, D., Tiemeyer, M., and Wells, L. (2011) Glycomic analyses of mouse models of congenital muscular dystrophy. J. Biol. Chem. 286, 21180-21190
-
(2011)
J. Biol. Chem.
, vol.286
, pp. 21180-21190
-
-
Stalnaker, S.H.1
Aoki, K.2
Lim, J.M.3
Porterfield, M.4
Liu, M.5
Satz, J.S.6
Buskirk, S.7
Xiong, Y.8
Zhang, P.9
Campbell, K.P.10
Hu, H.11
Live, D.12
Tiemeyer, M.13
Wells, L.14
-
48
-
-
57749114758
-
Receptor tyrosine phosphatase beta (RPTPβ) activity and signaling are attenuated by glycosylation and subsequent cell surface galectin-1 binding
-
Abbott, K. L., Matthews, R. T., and Pierce, M. (2008) Receptor tyrosine phosphatase beta (RPTPβ) activity and signaling are attenuated by glycosylation and subsequent cell surface galectin-1 binding. J. Biol. Chem. 283, 33026-33035
-
(2008)
J. Biol. Chem.
, vol.283
, pp. 33026-33035
-
-
Abbott, K.L.1
Matthews, R.T.2
Pierce, M.3
-
49
-
-
33646510540
-
Demonstration of the expression and the enzymatic activity of N-acetylglucosaminyltransferase IX in the mouse brain
-
Inamori, K., Mita, S., Gu, J., Mizuno-Horikawa, Y., Miyoshi, E., Dennis, J. W., and Taniguchi, N. (2006) Demonstration of the expression and the enzymatic activity of N-acetylglucosaminyltransferase IX in the mouse brain. Biochim. Biophys. Acta 1760, 678-684
-
(2006)
Biochim. Biophys. Acta
, vol.1760
, pp. 678-684
-
-
Inamori, K.1
Mita, S.2
Gu, J.3
Mizuno-Horikawa, Y.4
Miyoshi, E.5
Dennis, J.W.6
Taniguchi, N.7
-
50
-
-
0242541626
-
A novel β(1,6)-N-acetylglucosaminyltransferase v (GnT-VB)
-
Kaneko, M., Alvarez-Manilla, G., Kamar, M., Lee, I., Lee, J. K., Troupe, K., Zhang, W., Osawa, M., and Pierce, M. (2003) A novel β(1,6)-N- acetylglucosaminyltransferase V (GnT-VB). FEBS Lett. 554, 515-519
-
(2003)
FEBS Lett.
, vol.554
, pp. 515-519
-
-
Kaneko, M.1
Alvarez-Manilla, G.2
Kamar, M.3
Lee, I.4
Lee, J.K.5
Troupe, K.6
Zhang, W.7
Osawa, M.8
Pierce, M.9
-
51
-
-
33747344168
-
Integrin-dependent neuroblastoma cell adhesion and migration on laminin is regulated by expression levels of two enzymes in the O-mannosyl-linked glycosylation pathway, PomGnT1 and GnT-Vb
-
Abbott, K. L., Troupe, K., Lee, I., and Pierce, M. (2006) Integrin-dependent neuroblastoma cell adhesion and migration on laminin is regulated by expression levels of two enzymes in the O-mannosyl-linked glycosylation pathway, PomGnT1 and GnT-Vb. Exp. Cell Res. 312, 2837-2850
-
(2006)
Exp. Cell Res.
, vol.312
, pp. 2837-2850
-
-
Abbott, K.L.1
Troupe, K.2
Lee, I.3
Pierce, M.4
-
52
-
-
77649230973
-
Comparison of the substrate specificities and catalytic properties of the sister N-acetylglucosaminyltransferases, GnT-V and GnT-Vb (IX)
-
Alvarez-Manilla, G., Troupe, K., Fleming, M., Martinez-Uribe, E., and Pierce, M. (2010) Comparison of the substrate specificities and catalytic properties of the sister N-acetylglucosaminyltransferases, GnT-V and GnT-Vb (IX). Glycobiology 20, 166-174
-
(2010)
Glycobiology
, vol.20
, pp. 166-174
-
-
Alvarez-Manilla, G.1
Troupe, K.2
Fleming, M.3
Martinez-Uribe, E.4
Pierce, M.5
-
53
-
-
33646117485
-
N-Acetylglucosaminyltransferase VB expression enhances β1 integrin-dependent PC12 neurite outgrowth on laminin and collagen
-
Lee, I., Guo, H. B., Kamar, M., Abbott, K., Troupe, K., Lee, J. K., Alvarez- Manilla, G., and Pierce, M. (2006) N-Acetylglucosaminyltransferase VB expression enhances β1 integrin-dependent PC12 neurite outgrowth on laminin and collagen. J. Neurochem. 97, 947-956
-
(2006)
J. Neurochem.
, vol.97
, pp. 947-956
-
-
Lee, I.1
Guo, H.B.2
Kamar, M.3
Abbott, K.4
Troupe, K.5
Lee, J.K.6
Alvarez-Manilla, G.7
Pierce, M.8
-
54
-
-
34247849493
-
Dynamic developmental elaboration of N-linked glycan complexity in the Drosophila melanogaster embryo
-
DOI 10.1074/jbc.M606711200
-
Aoki, K., Perlman, M., Lim, J. M., Cantu, R., Wells, L., and Tiemeyer, M. (2007) Dynamic developmental elaboration of N-linked glycan complexity in the Drosophila melanogaster embryo. J. Biol. Chem. 282, 9127-9142 (Pubitemid 47093502)
-
(2007)
Journal of Biological Chemistry
, vol.282
, Issue.12
, pp. 9127-9142
-
-
Aoki, K.1
Perlman, M.2
Lim, J.-M.3
Cantu, R.4
Wells, L.5
Tiemeyer, M.6
-
55
-
-
45549095820
-
Targeted glycoproteomic identification of biomarkers for human breast carcinoma
-
Abbott, K. L., Aoki, K., Lim, J. M., Porterfield, M., Johnson, R., O'Regan, R. M., Wells, L., Tiemeyer, M., and Pierce, M. (2008) Targeted glycoproteomic identification of biomarkers for human breast carcinoma. J. Proteome Res. 7, 1470-1480
-
(2008)
J. Proteome Res.
, vol.7
, pp. 1470-1480
-
-
Abbott, K.L.1
Aoki, K.2
Lim, J.M.3
Porterfield, M.4
Johnson, R.5
O'Regan, R.M.6
Wells, L.7
Tiemeyer, M.8
Pierce, M.9
-
56
-
-
33747104841
-
Per-O-methylation reaction for structural analysis of carbohydrates by mass spectrometry
-
Ciucanu, I. (2006) Per-O-methylation reaction for structural analysis of carbohydrates by mass spectrometry. Anal. Chim. Acta 576, 147-155
-
(2006)
Anal. Chim. Acta
, vol.576
, pp. 147-155
-
-
Ciucanu, I.1
-
57
-
-
80052415923
-
Brainspecific expression of N-acetylglucosaminyltransferase IX (GnT-IX) is regulated by epigenetic histone modifications
-
Kizuka, Y., Kitazume, S., Yoshida, M., and Taniguchi, N. (2011) Brainspecific expression of N-acetylglucosaminyltransferase IX (GnT-IX) is regulated by epigenetic histone modifications. J. Biol. Chem. 286, 31875-31884
-
(2011)
J. Biol. Chem.
, vol.286
, pp. 31875-31884
-
-
Kizuka, Y.1
Kitazume, S.2
Yoshida, M.3
Taniguchi, N.4
-
58
-
-
40849094201
-
Differentiation and developmental origin of cerebellar granule neuron ectopia in protein O-mannose UDP-N-acetylglucosaminyltransferase 1 knock-out mice
-
Li, X., Zhang, P., Yang, Y., Xiong, Y., Qi, Y., and Hu, H. (2008) Differentiation and developmental origin of cerebellar granule neuron ectopia in protein O-mannose UDP-N-acetylglucosaminyltransferase 1 knock-out mice. Neuroscience 152, 391-406
-
(2008)
Neuroscience
, vol.152
, pp. 391-406
-
-
Li, X.1
Zhang, P.2
Yang, Y.3
Xiong, Y.4
Qi, Y.5
Hu, H.6
-
59
-
-
38049026404
-
Ectopia of meningeal fibroblasts and reactive gliosis in the cerebral cortex of the mouse model of muscle-eye-brain disease
-
Yang, Y., Zhang, P., Xiong, Y., Li, X., Qi, Y., and Hu, H. (2007) Ectopia of meningeal fibroblasts and reactive gliosis in the cerebral cortex of the mouse model of muscle-eye-brain disease. J. Comp. Neurol. 505, 459-477
-
(2007)
J. Comp. Neurol.
, vol.505
, pp. 459-477
-
-
Yang, Y.1
Zhang, P.2
Xiong, Y.3
Li, X.4
Qi, Y.5
Hu, H.6
-
60
-
-
33846522301
-
Breaches of the pial basement membrane and disappearance of the glia limitans during development underlie the cortical lamination defect in the mouse model of muscle-eye-brain disease
-
DOI 10.1002/cne.21238
-
Hu, H., Yang, Y., Eade, A., Xiong, Y., and Qi, Y. (2007) Breaches of the pial basement membrane and disappearance of the glia limitans during development underlie the cortical lamination defect in the mouse model of muscle-eye-brain disease. J. Comp. Neurol. 501, 168-183 (Pubitemid 46155877)
-
(2007)
Journal of Comparative Neurology
, vol.501
, Issue.1
, pp. 168-183
-
-
Hu, H.1
Yang, Y.2
Eade, A.3
Xiong, Y.4
Qi, Y.5
-
61
-
-
79953138207
-
Conditional knock-out of protein O-mannosyltransferase 2 reveals tissue-specific roles of O-mannosyl glycosylation in brain development
-
Hu, H., Li, J., Gagen, C. S., Gray, N. W., Zhang, Z., Qi, Y., and Zhang, P. (2011) Conditional knock-out 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
Gray, N.W.4
Zhang, Z.5
Qi, Y.6
Zhang, P.7
-
62
-
-
0030927063
-
Dystroglycan is essential for early embryonic development: Disruption of Reichert's membrane in Dag1-null mice
-
DOI 10.1093/hmg/6.6.831
-
Williamson, R. A., Henry, M. D., Daniels, K. J., Hrstka, R. F., Lee, J. C., Sunada, Y., Ibraghimov-Beskrovnaya, O., and Campbell, K. P. (1997) Dystroglycan is essential for early embryonic development: disruption of Reichert's membrane in Dag1-null mice. Hum. Mol. Genet. 6, 831-841 (Pubitemid 27239066)
-
(1997)
Human Molecular Genetics
, vol.6
, Issue.6
, pp. 831-841
-
-
Williamson, R.A.1
Henry, M.D.2
Daniels, K.J.3
Hrstka, R.F.4
Lee, J.C.5
Sunada, Y.6
Ibraghimov-Beskrovnaya, O.7
Campbell, K.P.8
-
63
-
-
0037173629
-
Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy
-
DOI 10.1038/nature00838
-
Moore, S. A., Saito, F., Chen, J., Michele, D. E., Henry, M. D., Messing, A., Cohn, R. D., Ross-Barta, S. E., Westra, S., Williamson, R. A., Hoshi, T., and Campbell, K. P. (2002) Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy. Nature 418, 422-425 (Pubitemid 34826842)
-
(2002)
Nature
, vol.418
, Issue.6896
, pp. 422-425
-
-
Moore, S.A.1
Saito, F.2
Chen, J.3
Michele, D.E.4
Henry, M.D.5
Messing, A.6
Cohn, R.D.7
Ross-Barta, S.E.8
Westra, S.9
Williamson, R.E.10
Hosl, T.11
Campbell, K.P.12
-
64
-
-
54849421206
-
Brain and eye malformations resembling Walker- Warburg syndrome are recapitulated in mice by dystroglycan deletion in the epiblast
-
Satz, J. S., Barresi, R., Durbeej, M., Willer, T., Turner, A., Moore, S. A., and Campbell, K. P. (2008) Brain and eye malformations resembling Walker- Warburg syndrome are recapitulated in mice by dystroglycan deletion in the epiblast. J. Neurosci. 28, 10567-10575
-
(2008)
J. Neurosci.
, vol.28
, pp. 10567-10575
-
-
Satz, J.S.1
Barresi, R.2
Durbeej, M.3
Willer, T.4
Turner, A.5
Moore, S.A.6
Campbell, K.P.7
-
65
-
-
69149093522
-
Basal lamina strengthens cell membrane integrity via the laminin G domain-binding motif of α-dystroglycan
-
Han, R., Kanagawa, M., Yoshida-Moriguchi, T., Rader, E. P., Ng, R. A., Michele, D. E., Muirhead, D. E., Kunz, S., Moore, S. A., Iannaccone, S. T., Miyake, K., McNeil, P. L., Mayer, U., Oldstone, M. B., Faulkner, J. A., and Campbell, K. P. (2009) Basal lamina strengthens cell membrane integrity via the laminin G domain-binding motif of α-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
Rader, E.P.4
Ng, R.A.5
Michele, D.E.6
Muirhead, D.E.7
Kunz, S.8
Moore, S.A.9
Iannaccone, S.T.10
Miyake, K.11
McNeil, P.L.12
Mayer, U.13
Oldstone, M.B.14
Faulkner, J.A.15
Campbell, K.P.16
-
66
-
-
77955629238
-
Retinal ectopias and mechanically weakened basement membrane in a mouse model of muscle-eye-brain (MEB) disease congenital muscular dystrophy
-
Hu, H., Candiello, J., Zhang, P., Ball, S. L., Cameron, D. A., and Halfter, W. (2010) Retinal ectopias and mechanically weakened basement membrane in a mouse model of muscle-eye-brain (MEB) disease congenital muscular dystrophy. Mol. Vis. 16, 1415-1428
-
(2010)
Mol. Vis.
, vol.16
, pp. 1415-1428
-
-
Hu, H.1
Candiello, J.2
Zhang, P.3
Ball, S.L.4
Cameron, D.A.5
Halfter, W.6
-
67
-
-
77957742104
-
Fukutin-related protein is essential for mouse muscle, brain, and eye development, and mutation recapitulates the wide clinical spectrums of dystroglycanopathies
-
Chan, Y. M., Keramaris-Vrantsis, E., Lidov, H. G., Norton, J. H., Zinchenko, N., Gruber, H. E., Thresher, R., Blake, D. J., Ashar, J., Rosenfeld, J., and Lu, Q. L. (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
Norton, J.H.4
Zinchenko, N.5
Gruber, H.E.6
Thresher, R.7
Blake, D.J.8
Ashar, J.9
Rosenfeld, J.10
Lu, Q.L.11
-
68
-
-
4644252932
-
Targeted disruption of the Walker-Warburg syndrome gene Pomt1 in mouse results in embryonic lethality
-
DOI 10.1073/pnas.0405899101
-
Willer, T., Prados, B., Falcón-Pérez, J. M., Renner-Müller, I., Przemeck, G. K., Lommel, M., Coloma, A., Valero, M. C., de Angelis, M. H., Tanner, W., Wolf, E., Strahl, S., and Cruces, J. (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 (Pubitemid 39305041)
-
(2004)
Proceedings of the National Academy of Sciences of the United States of America
, vol.101
, Issue.39
, pp. 14126-14131
-
-
Willer, T.1
Prados, B.2
Falcon-Perez, J.M.3
Renner-Muller, I.4
Przemeck, G.K.H.5
Lommel, M.6
Coloma, A.7
Valero, M.C.8
De Angelis, M.H.9
Tanner, W.10
Wolf, E.11
Strahl, S.12
Cruces, J.13
-
69
-
-
17444365843
-
Basement membrane fragility underlies embryonic lethality in fukutin-null mice
-
DOI 10.1016/j.nbd.2004.12.018
-
Kurahashi, H., Taniguchi, M., Meno, C., Taniguchi, Y., Takeda, S., Horie, M., Otani, H., and Toda, T. (2005) Basement membrane fragility underlies embryonic lethality in fukutin-null mice. Neurobiol. Dis. 19, 208-217 (Pubitemid 40544738)
-
(2005)
Neurobiology of Disease
, vol.19
, Issue.1-2
, pp. 208-217
-
-
Kurahashi, H.1
Taniguchi, M.2
Meno, C.3
Taniguchi, Y.4
Takeda, S.5
Horie, M.6
Otani, H.7
Toda, T.8
-
70
-
-
0024493145
-
Oncodevelopmental expression of -GlcNAcβ1-6Manα1-6Manβ1- branched asparagine-linked oligosaccharides in murine tissues and human breast carcinomas
-
Dennis, J. W., and Laferté, S. (1989) Oncodevelopmental expression of -GlcNAcβ1-6Manα1-6Manβ1-branched asparagine-linked oligosaccharides in murine tissues and human breast carcinomas. Cancer Res. 49, 945-950
-
(1989)
Cancer Res.
, vol.49
, pp. 945-950
-
-
Dennis, J.W.1
Laferté, S.2
-
71
-
-
0035825644
-
Negative regulation of T-cell activation and autoimmunity by Mgat5 N-glycosylation
-
DOI 10.1038/35055582
-
Demetriou, M., Granovsky, M., Quaggin, S., and Dennis, J. W. (2001) Negative regulation of T-cell activation and autoimmunity by Mgat5 N-glycosylation. Nature 409, 733-739 (Pubitemid 32144520)
-
(2001)
Nature
, vol.409
, Issue.6821
, pp. 733-739
-
-
Demetriou, M.1
Granovsky, M.2
Quaggin, S.3
Dennis, J.W.4
-
72
-
-
14844309324
-
Deletion of mouse embryo fibroblast N-acetylglucosaminyltransferase V stimulates α5β1 integrin expression mediated by the protein kinase C signaling pathway
-
DOI 10.1074/jbc.M413532200
-
Guo, H. B., Lee, I., Bryan, B. T., and Pierce, M. (2005) Deletion of Mouse Embryo Fibroblast N-acetylglucosaminyltransferase V stimulates α5β1 integrin expression mediated by the protein kinase C signaling pathway. J. Biol. Chem. 280, 8332-8342 (Pubitemid 40349736)
-
(2005)
Journal of Biological Chemistry
, vol.280
, Issue.9
, pp. 8332-8342
-
-
Guo, H.-B.1
Lee, I.2
Bryan, B.T.3
Pierce, M.4
-
73
-
-
0347993082
-
N-Acetylglucosaminyltransferase V Expression Levels Regulate Cadherin-associated Homotypic Cell-Cell Adhesion and Intracellular Signaling Pathways
-
DOI 10.1074/jbc.M308837200
-
Guo, H. B., Lee, I., Kamar, M., and Pierce, M. (2003) N-Acetylglucosaminyltransferase V expression levels regulate cadherin-associated homotypic cell-cell adhesion and intracellular signaling pathways. J. Biol. Chem. 278, 52412-52424 (Pubitemid 38035833)
-
(2003)
Journal of Biological Chemistry
, vol.278
, Issue.52
, pp. 52412-52424
-
-
Guo, H.-B.1
Lee, I.2
Kamar, M.3
Pierce, M.4
-
74
-
-
0036842987
-
A critical role for the protein tyrosine phosphatase receptor type Z in functional recovery from demyelinating lesions
-
DOI 10.1038/ng1004
-
Harroch, S., Furtado, G. C., Brueck, W., Rosenbluth, J., Lafaille, J., Chao, M., Buxbaum, J. D., and Schlessinger, J. (2002) A critical role for the protein- tyrosine phosphatase receptor type Z in functional recovery from demyelinating lesions. Nat. Genet. 32, 411-414 (Pubitemid 35266117)
-
(2002)
Nature Genetics
, vol.32
, Issue.3
, pp. 411-414
-
-
Harroch, S.1
Furtado, G.C.2
Brueck, W.3
Rosenbluth, J.4
Lafaille, J.5
Chao, M.6
Buxbaum, J.D.7
Schlessinger, J.8
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