Literature DB >> 18567859

Further observations in congenital myasthenic syndromes.

Andrew G Engel1, Xin-Ming Shen, Duygu Selcen, Steven M Sine.   

Abstract

During the past five years many patients suffering from congenital myasthenic syndromes (CMS) have been identified worldwide and novel causative genes and mutations have been discovered. The disease genes now include those encoding each subunit of the acetylcholine receptor (AChR), the ColQ part of acetylcholinesterase (AChE), choline acetyltransferase, Na(v)1.4, MuSK, and Dok-7. Moreover, emerging genotype-phenotype correlations are providing clues for targeted mutation analysis. This review focuses on the recent observations in selected CMS.

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Year:  2008        PMID： 18567859      PMCID： PMC3478107          DOI： 10.1196/annals.1405.039

Source DB:  PubMed          Journal:  Ann N Y Acad Sci        ISSN： 0077-8923            Impact factor:   5.691


  23 in total

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Authors:  Nigel Unwin
Journal:  J Mol Biol       Date:  2005-01-25       Impact factor: 5.469

2.  Subunit-specific contribution to agonist binding and channel gating revealed by inherited mutation in muscle acetylcholine receptor M3-M4 linker.

Authors:  Xin-Ming Shen; Kinji Ohno; Steven M Sine; Andrew G Engel
Journal:  Brain       Date:  2004-12-22       Impact factor: 13.501

3.  The muscle protein Dok-7 is essential for neuromuscular synaptogenesis.

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Journal:  Science       Date:  2006-06-23       Impact factor: 47.728

4.  An intersubunit trigger of channel gating in the muscle nicotinic receptor.

Authors:  Nuriya Mukhtasimova; Steven M Sine
Journal:  J Neurosci       Date:  2007-04-11       Impact factor: 6.167

5.  Slow-channel mutation in acetylcholine receptor alphaM4 domain and its efficient knockdown.

Authors:  Xin-Ming Shen; Feza Deymeer; Steven M Sine; Andrew G Engel
Journal:  Ann Neurol       Date:  2006-07       Impact factor: 10.422

6.  Congenital endplate acetylcholinesterase deficiency responsive to ephedrine.

Authors:  M Bestue-Cardiel; A Sáenz de Cabezón-Alvarez; J L Capablo-Liesa; J López-Pisón; J L Peña-Segura; J Martin-Martinez; A G Engel
Journal:  Neurology       Date:  2005-07-12       Impact factor: 9.910

7.  Two heparin-binding domains are present on the collagenic tail of asymmetric acetylcholinesterase.

Authors:  P N Deprez; N C Inestrosa
Journal:  J Biol Chem       Date:  1995-05-12       Impact factor: 5.157

8.  Quinidine normalizes the open duration of slow-channel mutants of the acetylcholine receptor.

Authors:  T Fukudome; K Ohno; J M Brengman; A G Engel
Journal:  Neuroreport       Date:  1998-06-01       Impact factor: 1.837

9.  Dok-7 mutations underlie a neuromuscular junction synaptopathy.

Authors:  David Beeson; Osamu Higuchi; Jackie Palace; Judy Cossins; Hayley Spearman; Susan Maxwell; John Newsom-Davis; Georgina Burke; Peter Fawcett; Masakatsu Motomura; Juliane S Müller; Hanns Lochmüller; Clarke Slater; Angela Vincent; Yuji Yamanashi
Journal:  Science       Date:  2006-08-17       Impact factor: 47.728

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Authors:  C R Slater; P R W Fawcett; T J Walls; P R Lyons; S J Bailey; D Beeson; C Young; D Gardner-Medwin
Journal:  Brain       Date:  2006-08       Impact factor: 13.501
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  10 in total

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Review 2.  To build a synapse: signaling pathways in neuromuscular junction assembly.

Authors:  Haitao Wu; Wen C Xiong; Lin Mei
Journal:  Development       Date:  2010-04       Impact factor: 6.868

3.  Phenotypic heterogeneity in a large Thai slow-channel congenital myasthenic syndrome kinship.

Authors:  Rawiphan Witoonpanich; Teeratorn Pulkes; Charungthai Dejthevaporn; Praphan Yodnopklao; Pirada Witoonpanich; Suppachok Wetchaphanphesat; Joan M Brengman; Andrew G Engel
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Review 4.  Ephedrine for myasthenia gravis, neonatal myasthenia and the congenital myasthenic syndromes.

Authors:  Charlotte Vrinten; Angeli M van der Zwaag; Stephanie S Weinreich; Rob J P M Scholten; Jan J G M Verschuuren
Journal:  Cochrane Database Syst Rev       Date:  2014-12-17

5.  Mutations in MUSK causing congenital myasthenic syndrome impair MuSK-Dok-7 interaction.

Authors:  Ricardo A Maselli; Juan Arredondo; Orla Cagney; Jarae J Ng; Jennifer A Anderson; Colette Williams; Bae J Gerke; Betty Soliven; Robert L Wollmann
Journal:  Hum Mol Genet       Date:  2010-04-06       Impact factor: 6.150

6.  Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients.

Authors:  M Milone; X M Shen; D Selcen; K Ohno; J Brengman; S T Iannaccone; C M Harper; A G Engel
Journal:  Neurology       Date:  2009-07-21       Impact factor: 9.910

7.  Lrp4 is a receptor for Agrin and forms a complex with MuSK.

Authors:  Natalie Kim; Amy L Stiegler; Thomas O Cameron; Peter T Hallock; Andrea M Gomez; Julie H Huang; Stevan R Hubbard; Michael L Dustin; Steven J Burden
Journal:  Cell       Date:  2008-10-09       Impact factor: 41.582

8.  Protein Tyrosine Phosphatase Receptor Type R (PTPRR) Reduces AChR Clustering by Dephosphorylating MuSK.

Authors:  Yanxun Chen; Maohao Guan; Fengqiang Yu; Zhongshan Yang; Weiqiang Yi; Xuan Huang; Ruiqin Qiu; Fancai Lai
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9.  A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia.

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Journal:  PLoS One       Date:  2013-01-09       Impact factor: 3.240

10.  Fast desensitization of acetylcholine receptors induced by a spider toxin.

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  10 in total

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