MEDICAL 1111111111 TOPICS...Dystroglycan ; : ) : ; : : : : : 6 ) : : : : ) : : ) : and : : ; : : : : : : : : :

MEDICAL

1111111111 TOPICS ~ 2 0 ~

Glycosylation of dystroglycan and congenital muscular dystrophies

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I\ 7 - 1 2 t I-XEBMR% - 7 P I' 7kkE$3%QE Kevin P. Campbell

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THE LUNG perspectives Vo1.14 No.3 75 (323)

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acetylglucosaminyltransferase (POMGnT1) tk,

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76 (324) THE LUNG perspectives Vo1.14 No.3

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Walker-Warburg syndrome(WWS) POMT1, POMT2 0-Man$Z%@% muscle-eye-brain disease (MEBg) POMGnTl GlcNAc$Z%R% ~th%!%E21!kfmY~ b 0 7 -f - (FCMD) fukutin $kYl ERIFd@j Y X b n 7 1' -2I(LGMD 21) fulrutin-related protein (FI<RP) $88 %X'Pkfi% Y X b D 7 1' - lC (MDClC) fukutin-related protein (FKRP) Ff;BR %XSkfi% Y R b D 7 1' -lD(MDClD) LARGE Ton

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* B 1 ) Durbeej M, Campbell KP : Muscular dystro-

phies involving the dystrophin-glycoprotein complex ; an overview of current mouse mod- els. Curr Opin Genet Dev 12 : 349-361, 2002

2 ) Barresi R, Campbell KP : Dystroglycan ; from biosynthesis to pathogenesis of human disease. J Cell Sci 119 : 199-207, 2006

3 ) Michele DE. Campbell KP : Dystrophin-glycoprotein complex ; post-translational processing and dystroglycan function. J Biol Chem 278 : 15457-15460, 2003

4 ) Chiba A, Matsumura K, Yamada H, e t a1 : Structures of sialylated 0-linked oligosaccha- rides of bovine peripheral nerve alpha-dystroglycan. The role of a novel 0-mannosyl-type oligosaccharide in the binding of alpha-dystroglycan with laminin. J Biol Chem 272 : 2156- 2162, 1997

5 ) Moore SA, Saito F, Chen J, e t a1 : Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy. Nature 418 : 422-425, 2002

6 ) Saito F, Moore SA, Barresi R, e t a1 : Unique role of dystroglycan in peripheral nerve myelination, nodal structure. and sodium channel stabiliza- tion. Neuron 38 : 747-758, 2003

7 ) Durbeej M, Talts JF. Henry MD, e t a1 : Dystroglycan binding to laminin alphalLG4 module influences epithelial morphogenesis of salivary gland and lung in vitro. Differentiation 69 : 121-134, 2001

8 ) Muntoni .F, Brockington M, Torelli S. et a1 : Defective glycosylation in congenital muscular dystrophies. Curr Opin Neurol 17 : 205-209, 2004

9 ) Toda T, Kobayashi K. Takeda S, et a1 : Fukuyarna- type congenital muscular dystrophy (FCMD) and alpha-dystroglycanopathy. Congenit Anom (Kyoto) 43 : 97-104, 2003

10) Manya H, Chiba A, Yoshida A, e t a1 :

Demonstration of mammalian protein O-mannosyltransferase activity ; coexpression of POMTl and POMT2 required for enzymatic activity. Proc Natl Acad Sci U S A 101 : 500-505, 2004

11) Yoshida A, Kobayashi K, Manya H, e t a1 : Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyl- transferase, POMGnT1. Dev Cell 1 : 717-724, 2001

12) Michele DE, Barresi R. Kanagawa M, et a1 : Post-translational disruption of dystroglycan- ligand interactions in congenital muscular dystrophies. Nature 418 : 417-422, 2002

13) Kobayashi K, Nakahori Y. Miyake M, et a1 : An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature 394 : 388-392, 1998

14) Hayashi YK, Ogawa M, Tagawa K, e t al : Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy. Neurology 57 : 115-121.2001

15) Barresi R, Michele DE, Kanagawa M, e t a1 : LARGE can functionally bypass alpha-dystro-


glycan glycosylation defects in distinct congeni- 953-964, 2004 tal muscular dystrophies. Nat Med 10 : 696-703. 17) Singh J. Itahana Y. Knight-Krajewski S, et a1 : 2004 Proteolytic enzymes and 'altered glycosylation

16) Kanagawa M. Saito F, Kunz S, et a1 : Molecular modulate dystroglycan function in carcinoma recognition by LARGE is essential for expres- cells. Cancer Res 64 : 6152-6159, 2004 sion of functional dystroglycan. Cell 117 :

THE LUNG perspectives VoZ.14 No.3 81 (329)

Documents

MEDICAL 1111111111 TOPICS...Dystroglycan ; : ) : ; : : : : : 6 ) : : : : ) : : ) : and : : ; : : : : : : : : :