Structural abnormalities of the AChR caused by mutations underlying congenital myasthenic syndromes

被引：5

作者：

Beeson, D ^{[1
]}

Webster, R

Ealing, J

Croxen, R

Brownlow, S

Brydson, M

Newsom-Davis, J

Slater, C

Hatton, C

Shelley, C

Colquhoun, D

Vincent, A

机构：

[1] Weatherall Inst Mol Med, Neurosci Grp, Oxford OX3 9DS, England

[2] Univ Newcastle, Dept Neurobiol, Newcastle Upon Tyne, Tyne & Wear, England

[3] UCL, Dept Pharmacol, London, England

来源：

MYASTHENIA GRAVIS AND RELATED DISORDERS: BIOCHEMICAL BASIS FOR DISEASE OF THE NEUROMUSCULAR JUNCTION | 2003年 / 998卷

关键词：

congenital myasthenic syndromes (CMS); acetylcholine receptor (AChR); mutations; AChR deficiency; green fluorescent protein; fast channel; slow channel; in situ hybridization;

D O I：

10.1196/annals.1254.013

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：

The objective was to define the molecular mechanisms underlying congenital myasthenic syndromes (CMS) by studying mutations within genes encoding the acetylcholine receptor (AChR) and related proteins at the neuromuscular junction. It was found that mutations within muscle AChRs are the most common cause of CMS. The majority are located within the E-subunit gene and result in AChR deficiency.

引用

页码：114 / 124

页数：11

共 37 条

[1] A common mutation (ε1267delG) in congenital myasthenic patients of Gypsy ethnic origin [J].

Abicht, A ;

Stucka, R ;

Karcagi, V ;

Herczegfalvi, A ;

Horváth, R ;

Mortier, W ;

Schara, U ;

Ramaekers, V ;

Jost, W ;

Brunner, J ;

Janssen, G ;

Seidel, U ;

Schlotter, B ;

Müller-Felber, W ;

Pongratz, D ;

Rüdel, R ;

Lochmüller, H .

NEUROLOGY, 1999, 53 (07) :1564-1569

[2] A newly identified chromosomal microdeletion and an N-box mutation of the AChRε gene cause a congenital myasthenic syndrome [J].

Abicht, A ;

Stucka, R ;

Schmidt, C ;

Briguet, A ;

Höpfner, S ;

Song, IH ;

Pongratz, D ;

Müller-Felber, W ;

Ruegg, MA ;

Lochmüller, H .

BRAIN, 2002, 125 :1005-1013

[3] Crystal structure of an ACh-binding protein reveals the ligand-binding domain of nicotinic receptors [J].

Brejc, K ;

van Dijk, WJ ;

Klaassen, RV ;

Schuurmans, M ;

van der Oost, J ;

Smit, AB ;

Sixma, TK .

NATURE, 2001, 411 (6835) :269-276

[4] Acetylcholine receptor δ subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita [J].

Brownlow, S ;

Webster, R ;

Croxen, R ;

Brydson, M ;

Neville, B ;

Lin, JP ;

Vincent, A ;

Newsom-Davis, J ;

Beeson, D .

JOURNAL OF CLINICAL INVESTIGATION, 2001, 108 (01) :125-130

[5]

Croxen R, 1999, ANN NEUROL, V46, P639, DOI 10.1002/1531-8249(199910)46:4<639::AID-ANA13>3.0.CO

[6]

2-1

[7] Mutations in different functional domains of the human muscle acetylcholine receptor alpha subunit in patients with the slow-channel congenital myasthenic syndrome [J].

Croxen, R ;

Newland, C ;

Beeson, D ;

Oosterhuis, H ;

Chauplannaz, G ;

Vincent, A ;

NewsomDavis, J .

HUMAN MOLECULAR GENETICS, 1997, 6 (05) :767-774

[8] End-plate γ- and ε-subunit mRNA levels in AChR deficiency syndrome due to ε-subunit null mutations [J].

Croxen, R ;

Young, C ;

Slater, C ;

Haslam, S ;

Brydson, M ;

Vincent, A ;

Beeson, D .

BRAIN, 2001, 124 :1362-1372

[9]

CROXEN R, IN PRESS NEUROLOGY

[10] Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (type Ic) [J].

Donger, C ;

Krejci, E ;

Serradell, AP ;

Eymard, B ;

Bon, S ;

Nicole, S ;

Chateau, D ;

Gary, F ;

Fardeau, M ;

Massoulié, J ;

Guicheney, P .

AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 63 (04) :967-975

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