Functions of Fukutin, a gene responsible for Fukuyama type congenital muscular dystrophy, in neuromuscular system and other somatic organs

Central Nervous System Agents in Medicinal Chemistry

Volumn 10, Issue 2, 2010, Pages 169-179

  Yamamoto, Tomoko ^a   Shibata, Noriyuki ^a   Saito, Yoshiaki ^b   Osawa, Makiko ^a   Kobayashi, Makio ^a  

^a TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^b TOTTORI UNIVERSITY   (Japan)

Author keywords

A dystroglycan; Cell signaling; Central nervous system; Fukutin; Glycosylation; Muscular dystrophy; Somatic organ

Indexed keywords

ALPHA DYSTROGLYCAN; FUKUTIN; REELIN;

ARTICLE; ASTROCYTE; BRAIN CORTEX; BRAIN DAMAGE; BRAIN DEVELOPMENT; BRAIN NERVE CELL; CENTRAL NERVOUS SYSTEM; FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY; GENE FUNCTION; GLYCOSYLATION; IMMUNOHISTOCHEMISTRY; NONHUMAN;

EID: 77953669029     PISSN: 18715249     EISSN: None     Source Type: Journal    
DOI: 10.2174/187152410791196369     Document Type: Article

References (121)

1. Schessl, J.; Zou, Y.; Bonnemann C.G. Congenital muscular dystrophies and the extracellular matrix. Semin. Pediatr. Neurol., 2006, 13(2), 80-89.
2. Martin, P.T. The dystroglycanopathies: The new disorders of O-linked glycosylation. Semin. Pediatr. Neurol., 2005, 12(3), 152-158.
3. Michele, D.E.; Campbell, K.P. Dystrophin-glycoprotein complex: post-transcriptional processing and dystroglycan function. J. Biol. Chem., 2003, 278(18), 15457-15460.
4. Hayashi, Y.K.; Ogawa, M.; Tagawa, K.; Noguchi, S.; Ishihara, T.; Nonaka, I.; Arahata, K. Selective deficiency of α-dystroglycan in Fukuyama-type congenital muscular dystrophy. Neurology, 2001, 57(1), 115-121.
5. Yamamoto, T.; Kato, Y.; Kawaguchi, M.; Shibata, N.; Kobayashi, M. Expression and localization of fukutin, POMGnT1 and POMT1 in the central nervous system: consideration for functions of fukutin. Med. Electron Microsc., 2004, 37(4), 200-207.
6. Takahashi, S.; Sasaki, T.; Manya, H.; Chiba, Y.; Yoshida, A.; Mi-zuno, M.; Ishida, H.; Ito, F.; Inazu, T.; Kotani, N.; Takasaki, S.; Takeuchi, M.; Endo, T. A new β1,2-N-acetylglucosaminyl-transferase that may play a role in the biosynthesis of mammalian O-mannosyl glycans. Glycobiology, 2001, 11(1), 37-45.
7. 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.; Endo, T. Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. Dev. Cell, 2001, 1(5), 717-724.
8. Kano, H.; Kobayashi, K.; Herrmann, R.; Tachikawa, M.; Manya, H.; Nishino, I.; Nonaka, I.; Straub, V.; Talim, B.; Voit, T.; Topalo-glu, H.; Endo, T.; Yoshikawa, H.; Toda, T. Deficiency of a-dystroglycan in Muscle-Eye-Brain disease. Biochem. Biophys. Res. Commun., 2002, 291(5), 1283-1286.
9. Manya, H.; Sakai, K.; Kobayashi, K.; Taniguchi, K.; Kawakita, M.; Toda, T.; Endo, T. Loss-of-function of an N-acetylgluco-saminyltransferase, POMGnT1, in muscle-eye-brain disease. Bio-chem. Biophys. Res. Commun., 2003, 306(1), 93-97.
10. 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.; Cru-ces, J.; Voit, T.; Walsh, C.A.; van Bokhoven, H.; Brunner, H.G. Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am. J. Hum. Genet., 2002, 71(5), 1033-1043.
11. Sabatelli, P.; Columbaro, M.; Mura, I.; Capanni, C.; Lattanzi, G.; Maraldi, N.M.; Baltrán-Valero de Bernabé, D,; van Bokoven, H.; Squarzoni, S.; Merlinid, L. Extracellular matrix and nuclear abnormalities in skeletal muscle of a patient with Walker-Warburg syndrome caused by POMT1 mutation. Biochim. Biophys. Acta, 2003, 1638(1), 57-62.
12. Akasaka-Manya, K.; Manya, H.; Endo, T. Mutations of the POMT1 gene found in patients with Walker-Warburg syndrome lead to a defect of protein O-mannosylation. Biochem. Biophys. Res. Commun., 2004, 325(1), 75-79.
13. 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.; Nishino, I. POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in a-DG. Neurology, 2004, 62(6), 1009-1011.
14. Manya, H.; Chiba, A.; Yoshida, A.; Wang, X.; Chiba, Y.; Jigami, Y.; Margolis, R.U.; Endo, T. Demonstration of mammalian protein O-mannosyltransferase activity: Coexpression of POMT1 and POMT2 required for enzymatic activity. Proc. Natl. Acad. Sci. USA, 2004, 101(2), 500-505.
15. van Reeuwijk, J.; Janssen, M.; van den Elzen, C.; Beltrán-Valero de Bernabé, D.; Sabatelli, P.; Merlini, L.; Boon, M.; Scheffer, H.; Brockington, M.; Muntoni, F.; Huynen, M.A.; Verrips, A, Walsh, C.A, Barth, PG, Brunner, H.G, van Bokhoven, H. POMT2 mutations cause α-dystroglycan hypoglycosylation and Walker-Warburg syndrome. J. Med. Genet., 2005, 42(12), 907-912.
16. Brockinton, M.; Blake, D.J.; Prandini, P.; Brown, S.C.; Torelli, S.; Benson, M.A.; Ponting, C.P.; Estournet, B.; Romero, N.B.; Mer-curi, E.; Voit, T.; Sewry, C.A.; Guicheney, P.; Muntoni, F. 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., 2001, 69(6), 1198-1209.
17. Brockinton, M.; Yuva, Y.; Prandini, P.; Brown, S.C.; Torelli, S.; Benson, M.A.; Herrmann, R.; Anderson, L.V.B.; Bashir, R.; Bur-gunder, 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.; Muntoni, F. 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., 2001, 10(25), 2851-2859.
18. Peyrard, M.; Seroussi, E.; Sandberg-Nordqvist, A.-C.; Xie, Y.-G.; Han, F.-Y.; Fransson, I.; Collins, J.; Dunham, I.; Kost-Alimova, M.; Imreh, S.; Dumanski, J.P. The human LARGE gene from 22q12.3-q13.1 is a new, distinct member of the glycosyltransferase gene family. Proc. Natl. Acad. Sci., USA, 1999, 96(2), 598-603.
19. Longman, C.; Brockington, M.; Torelli, S.; Jimenez-Mallebrera, C.; Kennedy, C.; Khalil, N.; Feng, L.; Saran, R.K.; Voit, T.; Mer-lini, L.; Sewry, C.A.; Brown, S.C.; Muntoni, F. 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., 2003, 12(21), 2853-2861.
20. Chiyonobu, T.; Sasaki, J.; Nagai, Y.; Takeda, S.; Funakoshi, H.; Nakamura, T.; Sugimoto, T.; Toda, T. Effects of fukutin deficiency in the developing brain. Neuromusc. Disord., 2005, 15(6), 416-426.
21. 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.; Kana-zawa, I.; Nakamura, Y.; Tokunaga, K.; Toda, T. An ancient retro-transposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature, 1998, 394 (6691), 388-392.
22. Saito, Y.; Yamamoto, T.; Ohtsuka-Tsurumi, E.; Oka, A.; Mizugu-chi, M.; Itoh, M.; Voit, T.; Kato, Y.; Kobayashi, M.; Saito, Y.; Osawa, M. Fukutin expression in mouse non-muscle somatic organs: its relationship to the hypoglycosylation of α-dystroglycan in Fukuyama-type congenital muscular dystrophy. Brain Dev., 2004, 26(7), 469-479.
23. Yamamoto, T.; Kato, Y.; Karita, M.; Kawaguchi, M.; Shibata, N.; Kobayashi, M. Expression of genes related to muscular dystrophy with lissencephaly. Pediatr.Neurol., 2004, 31(3), 183-190.
24. Toda, T; Ikegawa, S; Okui, K; Kondo, E; Saito, K; Fukuyama, Y; Yoshioka, M; Kumagai, T; Suzumori, K; Kanazawa, I; Nakamura, Y. Refined mapping of a gene responsible for Fukuyama-type congenital muscular dystrophy: Evidence for strong linkage disequilibrium. Am. J. Hum. Genet., 1994, 55(5), 946-950.
25. Saito, K.; Osawa, M.; Wang, Z.-P.; Ikeya, K.; Fukuyama, Y.; Kondo-Iida, E.; Toda, T.; Ohashi H.; Kurosawa, K.; Wakai, S.; Kaneko, K. Haplotype-phenotype correlation in Fukuyama congenital muscular dystrophy. Am. J. Med. Genet., 2000, 92(3), 184-190.
26. Kurahashi, H.; Taniguchi, M.; Meno, C.; Taniguchi, Y.; Takeda, S.; Horie, M.; Otani, H.; Toda, T. Basement membrane fragility underlies embryonic lethality in fukutin-null mice. Neurobiol. Dis., 2005, 79(1-2), 208-217.
27. Beltrán-Valero de Bernabé, D.; 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.; Brunner, H.G. A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype. J. Med. Genet., 2003,40(11),845-848.
28. Godfrey, C.; Escolar, D.; Brockington, M.; Clement, E.M.; Mein, R.; Jimenez-Mallebrera, C.; Torelli, S.; Feng, L.; Brown, S.C.; Swery, C.A.; Rutherford, M.; Shapira, Y.; Abbs, S.; Muntoni, F. Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy. Ann. Neurol., 2006, 60(5), 603-610.
29. Murakami, T.; Hayashi, Y.K.; Noguchi, S.; Ogawa, M.; Nonaka, I.; Tanabe, Y.; Ogino, M.; Takada, F.; Eriguchi, M.; Kotooka, N.; Campbell, K.P.; Osawa, M.; Nishino, I. Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness. Ann. Neurol., 2006, 60(5), 597-602.
30. Godfrey, C.; Clement, E.; Mein, R.; Brockington, M.; Smith, J.; Talim, B.; Straub, V.; Robb, S.; Quinlivan, R.; Feng, L.; Jimenez-Mallebrera, C.; Mercuri, E.; Manzur, A.Y.; Kinali, M.; Torelli, S.; Brown, S.C.; Swery, C.A.; Bushby, K.; Topaloglu, H.; North, K.; Abbs, S.; Muntoni, F. Refining genotypa-phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain, 2001, 130(Pt 10), 2725-2735.
31. Cotarelo, R.P.; Valero, M.C.; Prados, B.; Peñia, A.; Rodríguez, L.; Fano, O.; Marco, J.J.; Martínez-Frías, M.L.; Cruces, J. Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome. Clin. Genet., 2008, 73(2), 139-145.
32. Taniguchi, K.; Kobayashi, K.; Saito, K.; Yamanouchi, H.; Oh-numa, A.; Hayashi, Y.K.; Manya, H.; Jin, D.K.; Lee, M.; Parano,; Falsaperla, R.; Pavone, P.; Coster, D.V.; Talim, B.; Steinbre-cher, A.; Straub, V.; Nishino, I.; Topaloglu, H.; Voit, T.; Endo, T.; Toda, T. Worldwide distribution and broder clinical spectrum of muscle-eye-brain disease. Hum. Mol. Genet., 2003, 12(5), 527-534.
33. Balci, B.; Uyanik, G.; Dincer, P.; Gross, C.; Willer, T.; Talim, B.; Haliloglu, G.; Kale, G.; Hehr, U.; Winkler, J.; Topaloglu, H. An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation of the POMT1 gene. Neuro-musc. Disord., 2005, 15(4), 271-275.
34. Mercuri, E.; D'Amico, A.; Tessa, A.; Berardineli, A.; Pane, M.; Messina, S.; van Reeuwijk, J.; Bertini, E.; Muntoni, F.; Santorelli, M. POMT2 mutation in a patient with 'MEB-like' phenotype. Neuromusc. Disord., 2006, 16(7), 446-448.
35. Biancheri, R.; Falace, A.; Tessa, A.; Pedemonte, M.; Scapolan, S.; Cassandrini, D.; Aiello, C.; Rossi, A.; Broda, P.; Zara, F.; San-torelli, F.M.; Minetti, C.; Bruno, C. POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes. Biochem. Biophys. Res. Commun., 2001, 363(4), 1033-1037.
36. Mercuri, E.; Topaloglu, H.; Brockington, M.; Berardenelli, A.; Pichiecchio, A.; Santorelli, F.; Rutherford, M.; Talim, B.; Ricci, E.; Voit, T.; Muntoni, F. Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations. Arch. Neurol., 2006, 63(2), 251-257.
37. Fukuyama, Y.; Kawazura, M.; Haruna, H. A peculiar form of congenital progressive muscular dystrophy. Paediatr. Univ. Tokyo, 1960, 4, 5-8.
38. Fukuyama, Y.; Osawa, M.; Suzuki, H. Congenital progressive muscular dystrophy of the Fukuyama type. Clinical, genetic and pathological considerations. Brain Dev., 1981, 3(1), 1-29.
39. Osawa, M.; Sumida, S.; Suzuki, N.; Arai, Y.; Ikenaka, H.; Mura-sugi, H.; Shishikura, K.; Suzuki, H.; Saito, K.; Fukuyama, Y. In: Congenital Muscular Dystrophies; Fukuyama Y., Osawa M., Saito K. Eds.; Elsevier: Amsterdam, 1997, pp31-68.
40. Nakanishi, T.; Sakauchi, M.; Kaneda, Y.; Tomimatsu, H.; Saito, K.; Nakazawa, M.; Osawa, M. Cardiac involvement in Fukuyama-type congenital muscular dystrophy. Pediatrics, 2006, 117(6),1187-1192.
41. Yoshioka, M.; Kuroki, S.; Kondo, T. Ocular manifestations in Fukuyama type congenital muscular dystrophy. Brain Dev., 1990, 12(4), 423-426.
42. Matsubara, S.; Mizuno, Y.; Kitaguchi, T.; Isozaki, E.; Miyamoto, K.; Hirai, S. Fukuyama-type congenital muscular dystrophy: close relation between changes in the basal lamina and plasma membrane. Neuromusc. Disord., 1999, 9(6-7), 388-398.
43. Matsumura, K.; Nonaka, I.; Campbell, K.P. Abnormal expression of dystrophin-associated proteins in Fukuyama-type congenital muscular dystrophy. Lancet, 1993, 341 (8844), 521-522.
44. Ishii, H.; Hayashi, Y.K.; Nonaka, I.; Arahata, K. Electron microscopic examination of basal lamina in Fukuyama congenital muscular dystrophy. Neuromusc. Disord., 1991, 7(3), 191-197.
45. Miura, K.; Shirasawa, H. Congenital muscular dystrophy of the Fukuyama type (FCMD) with severe myocardial fibrosis. A case report with postmortem angiography. Acta Pathol. Jpn., 1987, 37(11), 1823-1835.
46. Moriuchi, T.; Kagawa, N.; Mukoyama, M.; Hizawa, K. Autopsy analyses of the muscular dystrophies. Tokushima J. Exp. Med., 1993, 40(1-2), 83-93.
47. Hino, N.; Kobayashi, M.; Shibata, N.; Yamamoto, T.; Saito, K.; Osawa, M. Clinicopathological study on eyes from cases of Fuku-yama type congenital muscular dystrophy. Brain Dev., 2001, 23(2), 97-107.
48. Kamoshita, S.; Konishi, Y.; Segawa, M.; Fukuyama, Y. Congenital muscular dystrophy as a disease of the central nervous system. Arch. Neurol., 1976, 33(7), 513-516.
49. Takada, K.; Nakamura, H.; Suzumori, K.; Ishikawa, T.; Sugiyama, N. Cortical dysplasia in a 23-week fetus with Fukuyama congenial muscular dystrophy (FCMD). Acta Neuropathol., 1987, 74(3), 300-306.
50. Yamamoto, T.; Toyoda, C.; Kobayashi, M.; Kondo, E.; Saito, K.; Osawa, M. Pial-glial barrier abnormalities in fetuses with Fuku-yama congenital muscular dystrophy. Brain Dev., 1997, 19(1), 35-42.
51. Nakano, I.; Funahashi, M.; Takada, K.; Toda, T. Are breaches in the glia limitans the primary cause of the micropolygyria in Fuku-yama-type congenital muscular dystrophy (FCMD)? Pathological study of the cerebral cortex of an FCMD fetus. Acta Neuropathol., 1996, 91(3), 313-321.
52. Yamamoto, T.; Shibata, N.; Kanazawa, M.; Kobayashi, M.; Ko-mori, T.; Kondo, E.; Saito, K.; Osawa, M. Early ultrastructural changes in the central nervous system in Fukuyama congenital muscular dystrophy. Ultrastruct. Pathol., 1997, 21(4), 355-360.
53. Takada, K.; Nakamura, H. Cerebellar micropolygyria in Fukuyama congenital muscular dystrophy: Observations in fetal and pediatric cases. Brain Dev., 1990, 12(6), 774-778.
54. Takada, K.; Nakamura, H.; Tanaka, J. Cortical dysplasia in congenital muscular dystrophy with central nervous system involvement (Fukuyama type). J. Neuropathol. Exp. Neurol., 1984, 43(4), 395-407.
55. Saito, Y.; Murayama, S.; Kawai, M.; Nakano, I. Breached glia limitans-basal lamina complex in Fukuyama-type congenital muscular dystrophy. Acta Neuropathol., 1999, 98(4), 330-336.
56. Kimura, S.; Sasaki, Y.; Kobayashi, T.; Ohtsuki, N.; Tanaka, Y.; Hara, M.; Miyake, S.; Yamada, M.; Iwamoto, H;. Misugi, N. Fuku-yama-type congenigal muscular dystrophy and the Walker-Warburg syndrome. Brain Dev., 1993, 15(3), 182-191.
57. Michele, D.E.; Barresi, R.; Kanagawa, M.; Saito, F.; Chon, R.D.; Satz, J.S.; Dollar, J.; Nishino, I.; Kelley, R.I.; Somer, H.; Straub, V.; Mathews, K.D.; Moore, S.A.; Campbell, K.P. Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies. Nature, 2002, 418(6896), 417-421.
58. Schröder, J.E.; Tegeler, M.R.; GroBhans, U.;Porten, E.; Blank, M.; Lee, J.; Esapa, C.; Blake, D.J.; Kröger, S. Dystroglycan regulates structure, proliferation and differentiation of neuroepithelial cells in the developing vertebrate CNS. Dev. Biol., 2007, 307(1), 62-78.
59. Saito, Y.; Yamamoto, T.; Mizuguchi, M.; Kobayashi, M.: Saito, K.; Ohno, K.; Osawa, M. Altered glycosylation of α-dystroglycan in neurons of Fukuyama congenital muscular dystrophy brains. Brain Res., 2006, 1075(1), 223-228
60. Sidman, R.L.; Rakic, P. Neuronal migration, with special reference to developing human brain: A review. Brain Res., 1973, 62(1), 1-35.
61. Larroche, J.-C. Developmental Pathology of the Neonate; Excerpta Medica: Amsterdam, 1977, pp319-353.
62. Friede, F.L. Developmental Neuropathology, second revised and expanded edition; Springer-Verlag: Berlin, 1989, pp2-20.
63. Mrzljak, L.; Uylings, H.B.M.; Kostovic, I.; van Eden, C.G. Prenatal development of neurons in the human prefrontal cortex: I. A qualitative Golgi study. J. Comp. Neurol., 1988, 271(3), 355-386.
64. Marín-Padilla, M. Ontogenesis of the pyramidal cell of the mammalian neocortex and developmental cytoarchitectonics: a unifying theory. J. Comp. Neurol., 1992, 321(2), 223-240.
65. Rakic, P. The radial edifice of cortical architecture: from neuronal silhouettes to genetic engineering. Brain Res. Rev., 2007, 55(2), 204-219.
66. Nakajima, K. Control of tangential/non-radial migration of neurons in the developing cerebral cortex. Neurochem. Int., 2007, 51(2-4), 121-131.
67. Bloch-Gallego, E.; Causeret, F.; Ezan, F.; Backer, S.; Hidalgo-Sanchez, M. Development of precerebellar nuclei: instructive factors and intracellular mediators in neuronal migration, survival and axon pathfinding. Brain Res. Rev., 2005, 49(2), 253-266.
68. Gleeson, J.G.; Walsh, C.A. Neuronal migration disorders: from genetic diseases to developmental mechanisms. Trends Neurosci., 2000, 23(8), 352-359.
69. Kerjan, G.; Gleeson, J.G. Genetic mechanisms underlying abnormal neuronal migration in classical lissencephaly. Trends Genet., 2007, 23(12), 623-630.
70. Sievers, J.; von Knebel Doeberitz, C.; Pehlemann, F.-W.; Berry, M. Meningeal cells influence cerebellar development over a critical period. Anat. Embryol., 1986, 175(1), 91-100.
71. von Knebel Doeberitz, C.; Sievers, J.; Sadler, M.; Pehlemann, F.-W.; Berry, M.; Halliwell, P. Destruction of meningeal cells over the newborn hamster cerebellum with 6-hydroxydopamine prevents foliation and lamination in the rostral cerebellum. Neuroscience, 1986, 17(2), 409-426.
72. Suzuki, M.; Choi, B.H. Repair and reconstruction of the cortical plate following closed cryogenic injury to the neonatal rat cerebrum. Acta Neuropathol., 1991, 82(2), 93-101.
73. Takeda, S.; Kondo, M.; Sasaki, J.; Hirahashi, H.; Kano, H.; Arai, K.; Misaki, K.; Fukui, T.; Kobayashi, K.; Tachikawa, M.; Ima-mura, M.; Nakamura, Y.; Shimizu, T.; Murakami, T.; Sunada, Y.; Fujikado, T.; Matsumura, K.; Terashima, T.; Toda, T. Fukutin is required for maintenance of muscle integrity, cortical histogenesis and normal eye development. Hum. Mol. Genet., 2003, 12(12), 1449-1459.
74. Hu, H.; Yang, Y.; Eade, A.; Xiong, Y.; Qi, Y. 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., 2007, 502(2), 168-183.
75. 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.; Campbell, K.P. Deletion of brain dystrogly-can recapitulates aspects of congenital muscular dystrophy. Nature, 2002, 418(6896), 422-425.
76. Costell, M.; Gustafsson, E.; Aszódi, A.; Mörgelin, M.; Bloch, W.; Hunziker, E.; Addicks, K.; Timpl, R.; Fässler, R. Perlecan maintains the integrity of cartilage and some basement membranes. J. Cell Biol, 1999, 147(5), 1109-1122.
77. Georges-Labouesse, E.; Mark, M.; Messaddeq, N.; Gansmüller, A. Essential role of α6 integrins in cortical and retinal lamination. Curr. Biol, 1998, 8(17), 983-986.
78. Graus-Porta, D.; Blaess, S.; Senften, M.; Littlewood-Evans, A.; Damsky, C.; Huang, Z.; Orban, P.; Klein, R.; Schittny, J.C.; Müller, U. β1-class integrins regulate the development of laminae and folia in the cerebral and cerebellar cortex. Neuron, 2001, 31(3), 367-379.
79. Niewmierzycka, A.; Mills, J.; St-Arnaud, R.; Dedhar, S.; Reichardt, L.F. Integrin-linked kinase deletion from mouse cortex results in cortical lamination defects resembling cobbestone lissencephaly. J. Neurosci., 2005, 25(30), 7022-7031.
80. Beggs, H.E.; Schahin-Reed, D.; Zang, K.; Goebbels, S.; Nave, K.-A.; Gorski, J.; Jones, K.R.; Stretavan, D.; Reichardt, L.F. FAK deficiency in cells contributing to the basal lamina results in cortical abnormalities resembling congenital muscular dystrophies. Neuron, 2003, 40(3), 501-514.
81. Zaccaria, M.L.; Di Tommaso, F.; Brancaccio, A.; Paggi, P.; Petrucci, T.C. Dystroglycan distribution in adult mouse brain: a light and electron microscopy study. Neuroscience, 2001, 104(2), 311-324.
82. Saito, Y.; Mizuguchi, M.; Oka, A.; Takashima, S. Fukutin protein is expressed in neurons of the normal developing human brain but is reduced in Fukuyama-type congenital muscular dystrophy brain. Ann. Neurol., 2000, 47(6), 756-764.
83. Yamamoto, T.; Kato, Y.; Karita, M.; Takeiri, H.; Muramatsu, F.; Kobayashi, M.; Saito, K.; Osawa, M. Fukutin expression in glial cells and neurons: implication in the brain lesions of Fukuyama congenital muscular dystrophy. Acta Neuropathol., 2002, 104(3), 217-224.
84. Saito, Y.; Kobayashi, M.; Itoh, M.; Saito, K.; Mizuguchi, M.; Sasaki, H.; Arima, K.; Yamamoto, T.; Takashima, S.; Sasaki, M.; Ha-yashi, K.; Osawa, M. Aberrant neuronal migration in the brainstem of Fukuyama-type congenital muscular dystrophy. J. Neuropathol. Exp. Neurol, 2003, 62(5), 497-508.
85. Miller, G.; Ladda, R.L.; Towfighi, J. Cerebro-ocular dysplasia-Muscular dystrophy (Walker Warburg) syndrome. Findings in 20-week-old fetus. Acta Neuropathol., 1991, 82(3), 234-238.
86. Prados, B.; Peña, A.; Cotarelo, R.P.; Valero, M.C.; Cruces, J. 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. Am. J. Pathol., 2007, 170(5), 1659-1668.
87. myd mouse are associated with stalled migration in the ventro-lateral hindbrain. Eur. J. Neurosci, 2006, 23(11), 2877-2886.
88. myd mouse defines a natural model for glycosylation-deficient muscle-eye-brain disorders. Hum. Mol. Genet, 2002, 11(21), 2673-2687.
89. Sasaki, J.; Ishikawa, K.; Kobayashi, K.; Kondo-Iida, E.; Fukayama, M.; Mizusawa, H.; Takashima, S.; Sakakihara, Y.; Nakamura, Y.; Toda, T. Neuronal expression of the fukutin gene. Hum. Mol. Genet, 2000, 9(20), 3083-3090.
90. Haenggi, T, Frisschy, J-M. Role of dystrophin and utrophin for assembly and function of the dystrophin glycoprotein complex in non-muscle tissue. Cell Mol. Life Sci, 2006, 63(14), 1614-1631.
91. Saito, F.; Masaki, T.; Saito, Y.; Nakamura, A.; Takeda, S.; Shi-mizu, T.; Toda, T.; Matsumura, K. Defective peripheral nerve mye-lination and neuromuscular junction formation in fukutin-deficient chimeric mice. J. Neurochem., 2007, 101(6), 1712-1722.
92. Kato, T.; Funahashi, M.; Matsui, A.; Takashima, S.; Suzuki, Y. MRI of disseminated developmental dysmyelination in fukuyamav type of CMD. Pediatr. Neurol., 2000, 23(5), 385-388.
93. Colognato, H.; Gavin, J.; Wang, Z.; Relucio, J.; Nguyen, T.; Harrison, D.; Yurchenco, P.D.; French-Constant, C. Identification of dystroglycan as a second laminin receptor in oligodendrocytes, with a role in myelination. Development, 2007, 134(9), 1723-1736.
94. Ulfig, N.; Steinbrecher, A.; Stoltenburg-Didinger, G.; Rezaie P. Differential activation of mononuclear phagocytes in cerebellar malformation associated with Walker-Wargurg syndrome. Neuro-pathology, 2008, 28(3), 333-340.
95. Nico, B.; Frigeri, A.; Nicchia, G.P.; Corsi, P.; Ribatti, D.; Quon-damatteo, F.; Herken, R.; Girolamo, F.; Marzullo, A.; Svelto, M.; Roncali, L. Severe alterations of endothelial and gilal cells in the blood-brain barrier of dystrophic myd mice. Glia, 2003, 42(3), 235-251.
96. del Zoppo, G.J.; Milner, R.; Mabuchi, T.; Hung, S.; Wang, X.; Koziol, J.A. Vascular matrix adhesion and the blood-brain-barrier. Biochem. Soc. Transac, 2006, 34(Pt 6), 1261-1266.
97. Liu, J.; Ball, S.L.; Yang, Y.; Mei, P.; Zhang, L.; Shi, H.; Kaminski, H.J.; Lemmon, V.P.; Hu, H. A genetic model for muscle-eye-brain disease in mice lacking protein O-mannose 1,2 N-acetylglucosaminyltransferase (POMGnT1). Mech. Dev., 2006, 123(3), 228-240.
98. Claudepierre, T.; Dalloz, C.; Mornet, D.; Matsumura, K.; Sahel, J.; Rendon, A. Characterization of the intermolecular associations of the dystrophin-associated glycoprotein complex in retinal M üller glial cells. J. Cell Sci., 2000, 113(Pt 19), 3409-3417.
99. Fort, P.E.; Sene, A.; Pannicke, T.; Roux, M.; Forster, V.; Mornet, D.; Nudel, U.; Yaffe, D.; Reichenbach, A.; Sahel, J.A.; Rendon, A. Kir4.1 and AQP4 associated with Dp71- and utrophin-DAPs complexes in specific and defined microdomains of Müller glial cell membrane. Glia, 2008, 56(6), 597-610.
100. Yamamoto, T.; Kato, Y.; Shibata, N.; Sawada, T.; Osawa, M.; Kobayashi, M. A role of fukutin, a gene responsible for Fukuyama type congenital muscular dystrophy, in cancer cells: a possible role to suppress cell proliferation. Int. J. Exp. Pathol., 2008, 89(5), 332-341.
101. Gerdes, J., Lemke, H.; Baisch, H.; Wacker, H.-H.; Schwab, U.; Stein, H. Cell cycle analysis of a cell proliferation-associated human nuclear antigen defined by the monoclonal antibody Ki-67. J. Immunol., 1984, 133(4), 1710-1715.
102. Cattoretti, G.; Becker, M.H.G.; Key, G.; Duchrow, M.; Schliiuter, C.; Galle, J.; Gerdes, J. Monoclonal antibodies against recombinant parts of the Ki-67 antigen (MIB 1 and MIB 3) detect proliferating cells in microwave-processed formalin-fixed paraffin sections. J. Pathol., 1992, 168(4), 357-363.
103. Matsumoto, H.; Noguchi, S.; Sugie, K.; Ogawa, M.; Murayama, K.; Hayashi, Y.K.; Nishino I. Subcellular localization of fukutin and fukutin-related protein in muscle cells. J. Biochem., 2004, 135(6), 709-712.
104. Beedle, A.M.; Nienaber, P.M.; Campbell, K.P. Fukutin-related protein associates with the sarcolemmal dystrophin-glycoprotein complex. J. Biol. Chem., 2007, 282(23), 16713-16717.
105. Aravind, L.; Koonin, E.V. The fukutin protein family-predicted enzymes modifying cell surface molecules. Curr. Biol., 1999, 9(22), R836-837.
106. Xiong, H.; Kobayashi, K.; Tachikawa, M.; Manya, H.; Takeda, S.; Chiyonobu, T.; Fujikake, N.; Wang, F.; Nishimoto, A.; Morris, G.E.; Nagai, Y.; Kanagawa, M.; Endo, T.; Toda, T. Molecular interaction between fukutin and POMGnT1 in the glycosylation pathway of α-dystroglycan. Biochem. Biophys. Res. Commun., 2006, 350(4), 935-941.
107. Yamamoto, T.; Kawaguchi, M.; Sakayori, N.; Muramatsu, F.; Morikawa, S.; Kato, Y.; Shibata, N.; Kobayashi, M. Intracellular binding of fukutin and a-dystroglycan:relation to glycosylation of α-dystroglycan. Neurosci. Res., 2006, 56(14), 391-399.
108. Oak, S.A.; Zhou, Y.W.; Jarrett, H.W. Skeletal muscle signaling pathway through the dystrophin glycoprotein complex and Rac1. J. Biol. Chem., 2003, 278(41), 39287-39295.
109. Russo, K.; Di Stasio, E.; Macchia, G.; Rosa, G.; Brancaccio, A.; Petrucci, T.C. Characterization of the β-dystroglycan-growth factor receptor 2 (Grb2) interaction. Biochem. Biophys. Res. Commun., 2000,274(1),93-98,
110. Sotgia, F.; Lee, H.; Bedford, M.T.; Petrucci, T.; Sudol, M.; Lisanti, M.P. Tyrosine phosphorylation of β-dystroglycan at its WW domain binding motif, PPxY, recruits SH2 domain containing proteins. Biochemistry, 2001, 40(48), 14585-14592.
111. Zhou, Y.W.; Jiang, D.; Thomason, D.B.; Jarrett, H.W. Laminin-induced activation of Rac1 and JNKp46 is initiated by src family kinases and mimics the effects of skeletal muscle contraction. Biochemistry, 2007, 46(51), 14907-14916.
112. Langenbach, K.J.; Rando, T.A. Inhibition of dystroglycan binding to laminin disrupts the PI3K/Akt pathway and survival signaling in muscle cells. Muscle Nerve., 2002, 26(5): 644-653.
113. Kobayashi, K.; Sasaki, J.; Kondo-Iida, E.; Fukuda, Y.; Kinoshita, M.; Sunada, Y.; Nakamura, Y.; Toda, T. Structural organization, complete genomic sequences and mutational analyses of the Fuku-yama-type congenital muscular dystrophy gene, fukutin. FEBS. Lett., 2001, 489(2-3), 192-196
114. Cossu, G.; Sampaolesi, M. New therapies for Duchenne muscular dystrophy: challenges, prospects and clinical trials. Trends Mol. Med., 2007, 13(12), 520-526.
115. Muntoni, F.; Wells, D. Genetic treatments in muscular dystrophies. Curr. Opin. Neurol., 2007, 20(5), 590-594.
116. Odom, G.L.; Gregorevic, P.; Chamberlain, J.S. Viral-mediated gene-therapy for the muscular dystrophies: successes, limitations and recent advances. Biochim. Biophys. Acta, 2007, 1772(2), 243-262
117. Barresi, R.; Michele, D.E.; Kanagawa, M.; Harper, H.A.; Dovico, S.A.; Satz, J.S.; Moore, S.A.; Zhang, W.; Schachter, H.; Dumanski, J.P.; Cohn, R.D.; Nishio, I.; Campbell, K.P. LARGE can functionally bypass a-dystroglycan defects in distinct congenital muscular dystrophies. Nat. Med., 2004, 10(7), 696-703.
118. Jiménez-Mallebrera, C.; Torelli, S.; Feng, L.; Kim, J.; Godfrey, C.; Clement, E.; Mein, R.; Abbs, S.; Brown, S.C.; Campbell, K.P.; Kröger, S.; Talim, B.; Topaloglu, H.; Quinlivan, R.; Roper, H.; Childs, A.M.; Kinali, M.; Sewry, C.A.; Muntoni, F. A comparative study of a-dystroglycan glycosylation in dystroglycanopathies suggest that the hypoglycosylation of α-dystroglycan dose not consistently correlate with clinical severity. Brain Pathol., 2009, 19(4), 596-611.
119. Ozawa, E.; Noguchi, S.; Mizuno, Y.; Hagiwaa, Y.: Yoshida, M. From dystrophinopathy to sarcoglycanopathy: evolution of a concept of muscular dystrophy. Muscle Nerve, 1998, 21(4), 421-438.
120. Ueyama, H.; Kumamoto, T.; Horinouchi, H.; Fujimoto, S; Aono, H.; Tsuda, T. Clinical heterogeneity of dysferlinopathy. Intern. Med., 2002, 41(7), 532-536.
121. Fukuyama, Y. Fukuyama congenital muscular dystrophy. History and perspectives. Brain Nerve, 2008, 60(1), 43-51 (In Japanese).