Citations for
1FADSL, MUSK
MuSK: a new target for lethal fetal akinesia deformation sequence (FADS).
Wilbe M, Ekvall S, Eurenius K, Ericson K, Casar-Borota O, Klar J, Dahl N, Ameur A, Annerén G, Bondeson ML.
J Med Genet 52(3):195-202. doi: 10.1136/jmedgenet-2014-102730. Epub 2015 Jan 22. 2015
2FADSL, MUSK
Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence.
Tan-Sindhunata MB, Mathijssen IB, Smit M, Baas F, de Vries JI, van der Voorn JP, Kluijt I, Hagen MA, Blom EW, Sistermans E, Meijers-Heijboer H, Waisfisz Q, Weiss MM, Groffen AJ.
Eur J Hum Genet ur J Hum Genet. 2014 Dec 24. doi: 10.1038/ejhg.2014.273. [Epub ahead of print] 2014
3CMS1D, MUSK
Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK.
Gallenmüller C, Müller-Felber W, Dusl M, Stucka R, Guergueltcheva V, Blaschek A, von der Hagen M, Huebner A, Müller JS, Lochmüller H, Abicht A.
Neuromuscul Disord 24(1):31-5. doi: 10.1016/j.nmd.2013.08.002. Epub 2013 Aug 7. 2014
4AGRN, MUSK
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 111(46):16556-61. doi: 10.1073/pnas.1408409111. Epub 2014 Nov 3. 2014
5DOK7, MUSK
Neuromuscular disease. DOK7 gene therapy benefits mouse models of diseases characterized by defects in the neuromuscular junction.
Arimura S, Okada T, Tezuka T, Chiyo T, Kasahara Y, Yoshimura T, Motomura M, Yoshida N, Beeson D, Takeda S, Yamanashi Y.
Science 345(6203):1505-8. doi: 10.1126/science.1250744. 2014
6DOK7, LRP4, MUSK
Structure and activation of MuSK, a receptor tyrosine kinase central to neuromuscular junction formation.
Hubbard SR, Gnanasambandan K.
Biochim Biophys Acta 1834(10):2166-9. doi: 10.1016/j.bbapap.2013.02.034. Epub 2013 Mar 5. Review. 2013
7LRP4, MUSK
Structural mechanisms of the agrin-LRP4-MuSK signaling pathway in neuromuscular junction differentiation.
Zong Y, Jin R.
Cell Mol Life Sci 70(17):3077-88. doi: 10.1007/s00018-012-1209-9. Epub 2012 Nov 22. Review. 2013
8DOK7, MUSK
Endosomal trafficking of the receptor tyrosine kinase MuSK proceeds via clathrin-dependent pathways, Arf6 and actin.
Luiskandl S, Woller B, Schlauf M, Schmid JA, Herbst R.
FEBS J 280(14):3281-97. doi: 10.1111/febs.12309. Epub 2013 May 23. 2013
9AGRN, LRP4, MUSK
Lrp4 is a retrograde signal for presynaptic differentiation at neuromuscular synapses.
Yumoto N, Kim N, Burden SJ.
Nature 489(7416):438-42. doi: 10.1038/nature11348. 2012
10MUSK
Muscle specific kinase: organiser of synaptic membrane domains.
Ghazanfari N, Fernandez KJ, Murata Y, Morsch M, Ngo ST, Reddel SW, Noakes PG, Phillips WD.
Int J Biochem Cell Biol 43(3):295-8. Epub 2010 Oct 23. Review. 2011
11AGRN, LRP4, MUSK
Agrin binds to the N-terminal region of Lrp4 protein and stimulates association between Lrp4 and the first immunoglobulin-like domain in muscle-specific kinase (MuSK).
Zhang W, Coldefy AS, Hubbard SR, Burden SJ.
J Biol Chem 286(47):40624-30. doi: 10.1074/jbc.M111.279307. Epub 2011 Oct 3. 2011
12MUSK
Temporal and spatial requirements of unplugged/MuSK function during zebrafish neuromuscular development.
Jing L, Gordon LR, Shtibin E, Granato M.
PLoS One 5(1):e8843.PMID: 20107509 2010
13CMS1D, DOK7, MUSK
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 19(12):2370-9. Epub 2010 Apr 6.PMID: 20371544 2010
14AGRN, CRK, CRKL, DOK7, MUSK
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 24(21):2451-61. 2010
15MUSK
Crystal structure of the frizzled-like cysteine-rich domain of the receptor tyrosine kinase MuSK.
Stiegler AL, Burden SJ, Hubbard SR.
J Mol Biol 393(1):1-9. Epub 2009 Aug 4.PMID: 19664639 2009
16MUSK
Cholinesterases and the basal lamina at vertebrate neuromuscular junctions.
Massoulié J, Millard CB.
Curr Opin Pharmacol 9(3):316-25. Epub 2009 May 5. Review.PMID: 19423392 2009
17DOK7, MUSK
Dok-7 activates the muscle receptor kinase MuSK and shapes synapse formation.
Inoue A, Setoguchi K, Matsubara Y, Okada K, Sato N, Iwakura Y, Higuchi O, Yamanashi Y.
Sci Signal 2(59):ra7.PMID: 19244212 2009
18DOK7, CMS1B, CMS1D, MUSK
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 283(9):5518-24. Epub 2007 Dec 29. 2008
19MUSK
MuSK controls where motor axons grow and form synapses.
Kim N, Burden SJ.
Nat Neurosci 11(1):19-27. Epub 2007 Dec 16. Erratum in: Nat Neurosci. 2008 Feb;11(2):238. 2008
20AGRN, LRP4, MUSK
Lrp4 is a receptor for Agrin and forms a complex with MuSK.
Kim N, Stiegler AL, Cameron TO, Hallock PT, Gomez AM, Huang JH, Hubbard SR, Dustin ML, Burden SJ.
Cell 135(2):334-42. Epub 2008 Oct 9. 2008
21MUSK, SHC4
Analysis of a Shc family adaptor protein, ShcD/Shc4, that associates with muscle-specific kinase.
Jones N, Hardy WR, Friese MB, Jorgensen C, Smith MJ, Woody NM, Burden SJ, Pawson T.
Mol Cell Biol 27(13):4759-73. Epub 2007 Apr 23. 2007
22MUSK, PDZRN3
Regulation of synaptic growth and maturation by a synapse-associated E3 ubiquitin ligase at the neuromuscular junction.
Lu Z, Je HS, Young P, Gross J, Lu B, Feng G.
J Cell Biol 177(6):1077-89. 2007
23MUSK, DOK7
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 312(5781):1802-5. 2006
24DAG1, AGRN, MUSK
Activation of muscle-specific receptor tyrosine kinase and binding to dystroglycan are regulated by alternative mRNA splicing of agrin.
Scotton P, Bleckmann D, Stebler M, Sciandra F, Brancaccio A, Meier T, Stetefeld J, Ruegg MA.
J Biol Chem 281(48):36835-45. Epub 2006 Sep 29. 2006
25MUSK, CMS1D
MUSK, a new target for mutations causing congenital myasthenic syndrome.
Chevessier F, Faraut B, Ravel-Chapuis A, Richard P, Gaudon K, Bauche 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, Hantai D.
Hum Mol Genet 13(24):3229-40. Epub 2004 Dec 15. 2004
26MUSK
Distinct roles of nerve and muscle in postsynaptic differentiation of the neuromuscular synapse.
Lin W, Burgess RW, Dominguez B, Pfaff SL, Sanes JR, Lee KF.
Nature 410(6832):1057-64. 2001
27FCMD, FKTN, MUSK, D9S2105, D9S2107, D9S2109
Linkage-disequilibrium mapping narrows the Fukuyama-type congenital muscular dystrophy (FCMD) candidate region to <100 kb.
Toda T, et al.
Am J Hum Genet 59 : 1313-1320. 1996
28MUSK
Receptor tyrosine kinase specific for the skeletal muscle lineage : expression in embryonic muscle, at the neuromuscular junction, and after injury.
Valenzuela DM, et al.
Neuron 15 : 573-584. 1995