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Items: 1 to 20 of 217

1.

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

Maselli RA, Arredondo J, Cagney O, Ng JJ, Anderson JA, Williams C, Gerke BJ, Soliven B, Wollmann RL.

Hum Mol Genet. 2010 Jun 15;19(12):2370-9. doi: 10.1093/hmg/ddq110. Epub 2010 Apr 6.

2.

A mammalian homolog of Drosophila tumorous imaginal discs, Tid1, mediates agrin signaling at the neuromuscular junction.

Linnoila J, Wang Y, Yao Y, Wang ZZ.

Neuron. 2008 Nov 26;60(4):625-41. doi: 10.1016/j.neuron.2008.09.025.

3.

LRP4 third β-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner.

Ohkawara B, Cabrera-Serrano M, Nakata T, Milone M, Asai N, Ito K, Ito M, Masuda A, Ito Y, Engel AG, Ohno K.

Hum Mol Genet. 2014 Apr 1;23(7):1856-68. doi: 10.1093/hmg/ddt578. Epub 2013 Nov 13.

4.

A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia.

Ben Ammar A, Soltanzadeh P, Bauché S, Richard P, Goillot E, Herbst R, Gaudon K, Huzé C, Schaeffer L, Yamanashi Y, Higuchi O, Taly A, Koenig J, Leroy JP, Hentati F, Najmabadi H, Kahrizi K, Ilkhani M, Fardeau M, Eymard B, Hantaï D.

PLoS One. 2013;8(1):e53826. doi: 10.1371/journal.pone.0053826. Epub 2013 Jan 9. Erratum in: PLoS One. 2013;8(9). doi: 10.1371/annotation/3ff2b918-c83c-4c6f-a2e2-4d91294ec92f.

5.

Dok-7/MuSK signaling and a congenital myasthenic syndrome.

Yamanashi Y, Higuch O, Beeson D.

Acta Myol. 2008 Jul;27:25-9.

6.

LG2 agrin mutation causing severe congenital myasthenic syndrome mimics functional characteristics of non-neural (z-) agrin.

Maselli RA, Fernandez JM, Arredondo J, Navarro C, Ngo M, Beeson D, Cagney O, Williams DC, Wollmann RL, Yarov-Yarovoy V, Ferns MJ.

Hum Genet. 2012 Jul;131(7):1123-35. doi: 10.1007/s00439-011-1132-4. Epub 2011 Dec 29.

7.

[Pathophysiological characterization of congenital myasthenic syndromes: the example of mutations in the MUSK gene].

Chevessier F, Faraut B, Ravel-Chapuis A, Richard P, Gaudon K, Bauché S, Prioleau C, Herbst R, Goillot E, Ioos C, Azulay JP, Attarian S, Leroy JP, Fournier E, Legay C, Schaeffer L, Koenig J, Fardeau M, Eymard B, Pouget J, Hantaï D.

J Soc Biol. 2005;199(1):61-77. French.

PMID:
16114265
8.

The MuSK activator agrin has a separate role essential for postnatal maintenance of neuromuscular synapses.

Tezuka T, Inoue A, Hoshi T, Weatherbee SD, Burgess RW, Ueta R, Yamanashi Y.

Proc Natl Acad Sci U S A. 2014 Nov 18;111(46):16556-61. doi: 10.1073/pnas.1408409111. Epub 2014 Nov 3.

9.

Mutations causing DOK7 congenital myasthenia ablate functional motifs in Dok-7.

Hamuro J, Higuchi O, Okada K, Ueno M, Iemura S, Natsume T, Spearman H, Beeson D, Yamanashi Y.

J Biol Chem. 2008 Feb 29;283(9):5518-24. doi: 10.1074/jbc.M708607200. Epub 2007 Dec 29.

10.

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

Okada K, Inoue A, Okada M, Murata Y, Kakuta S, Jigami T, Kubo S, Shiraishi H, Eguchi K, Motomura M, Akiyama T, Iwakura Y, Higuchi O, Yamanashi Y.

Science. 2006 Jun 23;312(5781):1802-5.

11.

A mouse model for congenital myasthenic syndrome due to MuSK mutations reveals defects in structure and function of neuromuscular junctions.

Chevessier F, Girard E, Molgó J, Bartling S, Koenig J, Hantaï D, Witzemann V.

Hum Mol Genet. 2008 Nov 15;17(22):3577-95. doi: 10.1093/hmg/ddn251. Epub 2008 Aug 21.

PMID:
18718936
12.

Dok-7 regulates neuromuscular synapse formation by recruiting Crk and Crk-L.

Hallock PT, Xu CF, Park TJ, Neubert TA, Curran T, Burden SJ.

Genes Dev. 2010 Nov 1;24(21):2451-61. doi: 10.1101/gad.1977710.

13.

Collagen Q and anti-MuSK autoantibody competitively suppress agrin/LRP4/MuSK signaling.

Otsuka K, Ito M, Ohkawara B, Masuda A, Kawakami Y, Sahashi K, Nishida H, Mabuchi N, Takano A, Engel AG, Ohno K.

Sci Rep. 2015 Sep 10;5:13928. doi: 10.1038/srep13928.

14.

MUSK, a new target for mutations causing congenital myasthenic syndrome.

Chevessier F, Faraut B, Ravel-Chapuis A, Richard P, Gaudon K, Bauché S, Prioleau C, Herbst R, Goillot E, Ioos C, Azulay JP, Attarian S, Leroy JP, Fournier E, Legay C, Schaeffer L, Koenig J, Fardeau M, Eymard B, Pouget J, Hantaï D.

Hum Mol Genet. 2004 Dec 15;13(24):3229-40. Epub 2004 Oct 20.

PMID:
15496425
15.

Structure and activation of MuSK, a receptor tyrosine kinase central to neuromuscular junction formation.

Hubbard SR, Gnanasambandan K.

Biochim Biophys Acta. 2013 Oct;1834(10):2166-9. doi: 10.1016/j.bbapap.2013.02.034. Epub 2013 Mar 5. Review.

16.

Distinct domains of MuSK mediate its abilities to induce and to associate with postsynaptic specializations.

Zhou H, Glass DJ, Yancopoulos GD, Sanes JR.

J Cell Biol. 1999 Sep 6;146(5):1133-46.

17.

The role of MuSK in synapse formation and neuromuscular disease.

Burden SJ, Yumoto N, Zhang W.

Cold Spring Harb Perspect Biol. 2013 May 1;5(5):a009167. doi: 10.1101/cshperspect.a009167. Review.

18.

Improved plasma membrane expression of the trafficking defective P344R mutant of muscle, skeletal, receptor tyrosine kinase (MuSK) causing congenital myasthenic syndrome.

Milhem RM, Al-Gazali L, Ali BR.

Int J Biochem Cell Biol. 2015 Mar;60:119-29. doi: 10.1016/j.biocel.2014.12.015. Epub 2015 Jan 3.

PMID:
25562515
19.

MuSK levels differ between adult skeletal muscles and influence postsynaptic plasticity.

Punga AR, Maj M, Lin S, Meinen S, Rüegg MA.

Eur J Neurosci. 2011 Mar;33(5):890-8. doi: 10.1111/j.1460-9568.2010.07569.x. Epub 2011 Jan 24.

PMID:
21255125
20.

Developmental consequences of the ColQ/MuSK interactions.

Karmouch J, Dobbertin A, Sigoillot S, Legay C.

Chem Biol Interact. 2013 Mar 25;203(1):287-91. doi: 10.1016/j.cbi.2012.10.006. Epub 2012 Oct 23. Review.

PMID:
23089045

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