共 81 条
Glycobiology of α-dystroglycan and muscular dystrophy
被引:109
作者:

Endo, Tamao
论文数: 0 引用数: 0
h-index: 0
机构:
Tokyo Metropolitan Geriatr Hosp, Tokyo 1730015, Japan
Inst Gerontol, Tokyo 1730015, Japan Tokyo Metropolitan Geriatr Hosp, Tokyo 1730015, Japan
机构:
[1] Tokyo Metropolitan Geriatr Hosp, Tokyo 1730015, Japan
[2] Inst Gerontol, Tokyo 1730015, Japan
关键词:
dystroglycan;
glycan biosynthesis;
glycosyltransferase;
muscular dystrophy;
O-mannosyl glycan;
WALKER-WARBURG-SYNDROME;
PROTEIN O-MANNOSYLATION;
GDP-MANNOSE PYROPHOSPHORYLASE;
RABBIT SKELETAL-MUSCLE;
LAMININ-BINDING;
DEFECTIVE GLYCOSYLATION;
ABNORMAL GLYCOSYLATION;
GENE POMT1;
MUTATIONS;
GLYCANS;
D O I:
10.1093/jb/mvu066
中图分类号:
Q5 [生物化学];
Q7 [分子生物学];
学科分类号:
071010 ;
081704 ;
摘要:
Most proteins are modified by glycans, which can modulate the biological properties and functions of glycoproteins. The major glycans can be classified into N-glycans and O-glycans according to their glycan-peptide linkage. This review will provide an overview of the O-mannosyl glycans, one subtype of O-glycans. Originally, O-mannosyl glycan was only known to be present on a limited number of glycoproteins, especially alpha-dystroglycan (alpha-DG). However, once a clear relationship was established between O-mannosyl glycan and the pathological mechanisms of some congenital muscular dystrophies in humans, research on the biochemistry and pathology of O-mannosyl glycans has been expanding. Because alpha-DG glycosylation is defective in congenital muscular dystrophies, which also feature abnormal neuronal migration, these disorders are collectively called alpha-dystroglycanopathies. In this article, I will describe the structure, biosynthesis and pathology of O-mannosyl glycans.
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页码:1 / 12
页数:12
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Univ Hamburg, Zentrum Mol Neurobiol Hamburg, D-20246 Hamburg, Germany Univ Giessen, Inst Biochem, Fac Med, D-35392 Giessen, Germany

Reinhold, Vernon
论文数: 0 引用数: 0
h-index: 0
机构:
Univ New Hampshire, Div Mol Cellular & Biomed Sci, Durham, NH 03824 USA Univ Giessen, Inst Biochem, Fac Med, D-35392 Giessen, Germany

Geyer, Rudolf
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机构:
Univ Giessen, Inst Biochem, Fac Med, D-35392 Giessen, Germany Univ Giessen, Inst Biochem, Fac Med, D-35392 Giessen, Germany
[10]
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
[J].
Brockington, M
;
Blake, DJ
;
Prandini, P
;
Brown, SC
;
Torelli, S
;
Benson, MA
;
Ponting, CP
;
Estournet, B
;
Romero, NB
;
Mercuri, E
;
Voit, T
;
Sewry, CA
;
Guicheney, P
;
Muntoni, F
.
AMERICAN JOURNAL OF HUMAN GENETICS,
2001, 69 (06)
:1198-1209

Brockington, M
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机构: Imperial Coll Sch Med, Dept Paediat, Dubowitz Neuromuscular Ctr, London, England

Blake, DJ
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h-index: 0
机构: Imperial Coll Sch Med, Dept Paediat, Dubowitz Neuromuscular Ctr, London, England

Prandini, P
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h-index: 0
机构: Imperial Coll Sch Med, Dept Paediat, Dubowitz Neuromuscular Ctr, London, England

Brown, SC
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h-index: 0
机构: Imperial Coll Sch Med, Dept Paediat, Dubowitz Neuromuscular Ctr, London, England

Torelli, S
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h-index: 0
机构: Imperial Coll Sch Med, Dept Paediat, Dubowitz Neuromuscular Ctr, London, England

Benson, MA
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机构: Imperial Coll Sch Med, Dept Paediat, Dubowitz Neuromuscular Ctr, London, England

Ponting, CP
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机构: Imperial Coll Sch Med, Dept Paediat, Dubowitz Neuromuscular Ctr, London, England

Estournet, B
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h-index: 0
机构: Imperial Coll Sch Med, Dept Paediat, Dubowitz Neuromuscular Ctr, London, England

Romero, NB
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h-index: 0
机构: Imperial Coll Sch Med, Dept Paediat, Dubowitz Neuromuscular Ctr, London, England

Mercuri, E
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h-index: 0
机构: Imperial Coll Sch Med, Dept Paediat, Dubowitz Neuromuscular Ctr, London, England

Voit, T
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机构: Imperial Coll Sch Med, Dept Paediat, Dubowitz Neuromuscular Ctr, London, England

Sewry, CA
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机构: Imperial Coll Sch Med, Dept Paediat, Dubowitz Neuromuscular Ctr, London, England

Guicheney, P
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机构: Imperial Coll Sch Med, Dept Paediat, Dubowitz Neuromuscular Ctr, London, England

Muntoni, F
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h-index: 0
机构: Imperial Coll Sch Med, Dept Paediat, Dubowitz Neuromuscular Ctr, London, England