Musk

Summary

Gene Symbol: Musk
Description: muscle, skeletal, receptor tyrosine kinase
Alias: Mdk4, Mlk, Nsk1, Nsk2, Nsk3, muscle, skeletal receptor tyrosine-protein kinase, muscle localized kinase 2, muscle-specific kinase receptor, muscle-specific protein kinase secretory isoform, muscle-specific tyrosine-protein kinase receptor
Species: mouse
Products:     Musk

Top Publications

  1. Okada K, Inoue A, Okada M, Murata Y, Kakuta S, Jigami T, et al. The muscle protein Dok-7 is essential for neuromuscular synaptogenesis. Science. 2006;312:1802-5 pubmed publisher
    The formation of the neuromuscular synapse requires muscle-specific receptor kinase (MuSK) to orchestrate postsynaptic differentiation, including the clustering of receptors for the neurotransmitter acetylcholine...
  2. Woller B, Luiskandl S, Popovic M, Prieler B, Ikonge G, Mutzl M, et al. Rin-like, a novel regulator of endocytosis, acts as guanine nucleotide exchange factor for Rab5a and Rab22. Biochim Biophys Acta. 2011;1813:1198-210 pubmed publisher
    ..novel RIN family member, Rin-like (Rinl), that represents a new interaction partner of the receptor tyrosine kinase MuSK, which is an essential key regulator of neuromuscular synapse development...
  3. Zhu D, Yang Z, Luo Z, Luo S, Xiong W, Mei L. Muscle-specific receptor tyrosine kinase endocytosis in acetylcholine receptor clustering in response to agrin. J Neurosci. 2008;28:1688-96 pubmed publisher
    ..neuromuscular junction, initiates signal transduction by activating the muscle-specific receptor tyrosine kinase (MuSK). However, the underlying mechanisms remain poorly defined...
  4. Bergamin E, Hallock P, Burden S, Hubbard S. The cytoplasmic adaptor protein Dok7 activates the receptor tyrosine kinase MuSK via dimerization. Mol Cell. 2010;39:100-9 pubmed publisher
    ..proteins, Agrin, a neuronally derived ligand, and the following muscle proteins: LRP4, the receptor for Agrin; MuSK, a receptor tyrosine kinase (RTK); and Dok7 (or Dok-7), a cytoplasmic adaptor protein...
  5. Herbst R, Avetisova E, Burden S. Restoration of synapse formation in Musk mutant mice expressing a Musk/Trk chimeric receptor. Development. 2002;129:5449-60 pubmed
    Mice lacking Musk, a muscle-specific receptor tyrosine kinase that is activated by agrin, fail to form neuromuscular synapses and consequently die at birth because of their failure to move or breathe...
  6. Nguyen Q, Son Y, Sanes J, Lichtman J. Nerve terminals form but fail to mature when postsynaptic differentiation is blocked: in vivo analysis using mammalian nerve-muscle chimeras. J Neurosci. 2000;20:6077-86 pubmed
    ..when nerves entered transplanted muscles derived from mice lacking muscle-specific receptor tyrosine kinase (MuSK) or rapsyn, muscle-specific components required for postsynaptic differentiation...
  7. Liu Y, Padgett D, Takahashi M, Li H, Sayeed A, Teichert R, et al. Essential roles of the acetylcholine receptor gamma-subunit in neuromuscular synaptic patterning. Development. 2008;135:1957-67 pubmed publisher
    ..However, clustering of muscle specific kinase (MuSK) proceeded normally in the gamma-null muscles...
  8. Lu Z, Je H, Young P, Gross J, Lu B, Feng G. Regulation of synaptic growth and maturation by a synapse-associated E3 ubiquitin ligase at the neuromuscular junction. J Cell Biol. 2007;177:1077-89 pubmed
    ..ligase and have demonstrated that it regulates the surface expression of muscle-specific receptor tyrosine kinase (MuSK), the key organizer of postsynaptic development at the mammalian neuromuscular junction...
  9. Linnoila J, Wang Y, Yao Y, Wang Z. A mammalian homolog of Drosophila tumorous imaginal discs, Tid1, mediates agrin signaling at the neuromuscular junction. Neuron. 2008;60:625-41 pubmed publisher
    ..identify a protein, tumorous imaginal discs (Tid1), that binds to the cytoplasmic domain of muscle-specific kinase (MuSK), a major component of the agrin receptor...

More Information

Publications79

  1. Zhang B, Luo S, Wang Q, Suzuki T, Xiong W, Mei L. LRP4 serves as a coreceptor of agrin. Neuron. 2008;60:285-97 pubmed publisher
    Neuromuscular junction (NMJ) formation requires agrin, a factor released from motoneurons, and MuSK, a transmembrane tyrosine kinase that is activated by agrin. However, how signal is transduced from agrin to MuSK remains unclear...
  2. Kim N, Stiegler A, Cameron T, Hallock P, Gomez A, Huang J, et al. Lrp4 is a receptor for Agrin and forms a complex with MuSK. Cell. 2008;135:334-42 pubmed publisher
    ..b>MuSK, a receptor tyrosine kinase that is expressed in skeletal muscle, and Agrin, a motor neuron-derived ligand that ..
  3. Hesser B, Henschel O, Witzemann V. Synapse disassembly and formation of new synapses in postnatal muscle upon conditional inactivation of MuSK. Mol Cell Neurosci. 2006;31:470-80 pubmed
    The muscle-specific-kinase MuSK is required for the formation of acetylcholine receptor clusters during embryonic development, but its physiological role in adult muscle is not known...
  4. Zhang W, Coldefy A, Hubbard S, Burden S. 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). J Biol Chem. 2011;286:40624-30 pubmed publisher
    ..region in a manner that depends upon Lrp4, a member of the LDL receptor family, and muscle-specific kinase (MuSK), a receptor tyrosine kinase...
  5. Bromann P, Zhou H, Sanes J. Kinase- and rapsyn-independent activities of the muscle-specific kinase (MuSK). Neuroscience. 2004;125:417-26 pubmed
    The muscle-specific receptor tyrosine kinase (MuSK) is co-localized with nicotinic acetylcholine receptors (AChRs) in the postsynaptic membrane of the skeletal neuromuscular junction, and is required for all known aspects of postsynaptic ..
  6. Luo Z, Wang Q, Zhou J, Wang J, Luo Z, Liu M, et al. Regulation of AChR clustering by Dishevelled interacting with MuSK and PAK1. Neuron. 2002;35:489-505 pubmed
    ..Although MuSK is required for acetylcholine receptor (AChR) clustering at the neuromuscular junction (NMJ), the underlying ..
  7. Chevessier F, Girard E, Molgo J, Bartling S, Koenig J, Hantai D, et al. A mouse model for congenital myasthenic syndrome due to MuSK mutations reveals defects in structure and function of neuromuscular junctions. Hum Mol Genet. 2008;17:3577-95 pubmed publisher
    In the muscle-specific tyrosine kinase receptor gene MUSK, a heteroallelic missense and a null mutation were identified in a patient suffering from a congenital myasthenic syndrome (CMS)...
  8. Liu Y, Oppenheim R, Sugiura Y, Lin W. Abnormal development of the neuromuscular junction in Nedd4-deficient mice. Dev Biol. 2009;330:153-66 pubmed publisher
    ..Together, these results demonstrate that Nedd4 is involved in regulating the formation and function of the NMJs through non-cell autonomous mechanisms. ..
  9. Bowen D, Park J, Bodine S, Stark J, Valenzuela D, Stitt T, et al. Localization and regulation of MuSK at the neuromuscular junction. Dev Biol. 1998;199:309-19 pubmed
    The receptor tyrosine kinase, MuSK, is required for the formation of the neuromuscular junction (NMJ) where MuSK becomes phosphorylated when exposed to neuronally synthesized isoforms of agrin...
  10. Lin W, Burgess R, Dominguez B, Pfaff S, Sanes J, Lee K. Distinct roles of nerve and muscle in postsynaptic differentiation of the neuromuscular synapse. Nature. 2001;410:1057-64 pubmed
    ..Much evidence suggests that the nerve-derived protein agrin activates muscle-specific kinase (MuSK) to cluster AChRs through the synapse-specific cytoplasmic protein rapsyn...
  11. Kim N, Burden S. MuSK controls where motor axons grow and form synapses. Nat Neurosci. 2008;11:19-27 pubmed
    ..This muscle prepattern requires MuSK, a receptor tyrosine kinase that is essential for synapse formation...
  12. Apel E, Glass D, Moscoso L, Yancopoulos G, Sanes J. Rapsyn is required for MuSK signaling and recruits synaptic components to a MuSK-containing scaffold. Neuron. 1997;18:623-35 pubmed
    ..The receptor tyrosine kinase MuSK is a component of the agrin receptor, while the cytoplasmic protein rapsyn is necessary for the clustering of AChRs ..
  13. Luo Z, Je H, Wang Q, Yang F, Dobbins G, Yang Z, et al. Implication of geranylgeranyltransferase I in synapse formation. Neuron. 2003;40:703-17 pubmed
    Agrin activates the transmembrane tyrosine kinase MuSK to mediate acetylcholine receptor (AChR) clustering at the neuromuscular junction (NMJ). However, the intracellular signaling mechanism downstream of MuSK is poorly characterized...
  14. Bromann P, Weiner J, Apel E, Lewis R, Sanes J. A putative ariadne-like E3 ubiquitin ligase (PAUL) that interacts with the muscle-specific kinase (MuSK). Gene Expr Patterns. 2004;4:77-84 pubmed
    ..at the skeletal neuromuscular junction (NMJ) requires activation of the muscle-specific receptor tyrosine kinase (MuSK). Few intracellular mediators or modulators of MuSK actions are known...
  15. DeChiara T, Bowen D, Valenzuela D, Simmons M, Poueymirou W, Thomas S, et al. The receptor tyrosine kinase MuSK is required for neuromuscular junction formation in vivo. Cell. 1996;85:501-12 pubmed
    ..We have generated mice with a targeted disruption of the gene encoding MuSK, a receptor tyrosine kinase selectively localized to the postsynaptic muscle surface...
  16. Chen F, Liu Y, Sugiura Y, Allen P, Gregg R, Lin W. Neuromuscular synaptic patterning requires the function of skeletal muscle dihydropyridine receptors. Nat Neurosci. 2011;14:570-7 pubmed publisher
    ..Our findings indicate that the skeletal muscle DHPR retrogradely regulates the patterning and formation of the NMJ. ..
  17. Kishi M, Kummer T, Eglen S, Sanes J. LL5beta: a regulator of postsynaptic differentiation identified in a screen for synaptically enriched transcripts at the neuromuscular junction. J Cell Biol. 2005;169:355-66 pubmed
    ..Thus, a strategy designed to identify novel synaptic components led to identification of a protein required for assembly of the postsynaptic apparatus. ..
  18. Ganju P, Walls E, Brennan J, Reith A. Cloning and developmental expression of Nsk2, a novel receptor tyrosine kinase implicated in skeletal myogenesis. Oncogene. 1995;11:281-90 pubmed
    ..We report the cloning and developmental expression pattern of Nsk2, a novel, structurally distinct mammalian RTK characterised by a putative extracellular region bearing four ..
  19. Chevessier F, Faraut B, Ravel Chapuis A, Richard P, Gaudon K, Bauché S, et al. MUSK, a new target for mutations causing congenital myasthenic syndrome. Hum Mol Genet. 2004;13:3229-40 pubmed
    ..transmission dysfunction due to mutations in the gene encoding the muscle-specific receptor tyrosine kinase (MuSK). Gene analysis identified two heteroallelic mutations, a frameshift mutation (c...
  20. Valenzuela D, Stitt T, DiStefano P, Rojas E, Mattsson K, Compton D, et al. Receptor tyrosine kinase specific for the skeletal muscle lineage: expression in embryonic muscle, at the neuromuscular junction, and after injury. Neuron. 1995;15:573-84 pubmed
    ..Here we identify a receptor tyrosine kinase (RTK) specific to skeletal muscle, which we term "MuSK" for muscle-specific kinase...
  21. Glass D, Bowen D, Stitt T, Radziejewski C, Bruno J, Ryan T, et al. Agrin acts via a MuSK receptor complex. Cell. 1996;85:513-23 pubmed
    ..b>MuSK is a receptor tyrosine kinase localized to the motor endplate, seemingly well positioned to receive a key nerve-..
  22. Madhavan R, Zhao X, Ruegg M, Peng H. Tyrosine phosphatase regulation of MuSK-dependent acetylcholine receptor clustering. Mol Cell Neurosci. 2005;28:403-16 pubmed
    ..agrin induces acetylcholine receptor (AChR) clustering in muscle by activating the muscle-specific tyrosine kinase MuSK. Recently, it has been recognized that MuSK activation-dependent AChR clustering occurs in embryonic muscle even in ..
  23. Yang X, Arber S, William C, Li L, Tanabe Y, Jessell T, et al. Patterning of muscle acetylcholine receptor gene expression in the absence of motor innervation. Neuron. 2001;30:399-410 pubmed
    ..Neurally derived Agrin is dispensable for this early phase of AChR expression, but MuSK, a receptor tyrosine kinase activated by Agrin, is required to establish this AChR prepattern...
  24. Sander A, Hesser B, Witzemann V. MuSK induces in vivo acetylcholine receptor clusters in a ligand-independent manner. J Cell Biol. 2001;155:1287-96 pubmed
    Muscle-specific receptor tyrosine kinase (MuSK) is required for the formation of the neuromuscular junction...
  25. Weatherbee S, Anderson K, Niswander L. LDL-receptor-related protein 4 is crucial for formation of the neuromuscular junction. Development. 2006;133:4993-5000 pubmed
    ..The identification of Lrp4 as a crucial factor for NMJ formation may have implications for human neuromuscular diseases such as myasthenia syndromes. ..
  26. Srivastava A, Kapur S, Mohan S, Yu H, Kapur S, Wergedal J, et al. Identification of novel genetic loci for bone size and mechanosensitivity in an ENU mutant exhibiting decreased bone size. J Bone Miner Res. 2005;20:1041-50 pubmed
    ..The 917M locus on chromosome 4 seems to be novel because it does not correspond with those loci previously associated with bone size on chromosome 4 in B6 and C3H/HeJ mice or other crosses. ..
  27. Messéant J, Dobbertin A, Girard E, Delers P, Manuel M, Mangione F, et al. MuSK frizzled-like domain is critical for mammalian neuromuscular junction formation and maintenance. J Neurosci. 2015;35:4926-41 pubmed publisher
    The muscle-specific kinase MuSK is one of the key molecules orchestrating neuromuscular junction (NMJ) formation. MuSK interacts with the Wnt morphogens, through its Frizzled-like domain (cysteine-rich domain [CRD])...
  28. Luiskandl S, Woller B, Schlauf M, Schmid J, Herbst R. Endosomal trafficking of the receptor tyrosine kinase MuSK proceeds via clathrin-dependent pathways, Arf6 and actin. FEBS J. 2013;280:3281-97 pubmed publisher
    Muscle-specific kinase (MuSK), a receptor tyrosine kinase, is the key player during the formation of the neuromuscular junction...
  29. Sigoillot S, Bourgeois F, Lambergeon M, Strochlic L, Legay C. ColQ controls postsynaptic differentiation at the neuromuscular junction. J Neurosci. 2010;30:13-23 pubmed publisher
    ..Moreover, ColQ interacts with perlecan/dystroglycan and the muscle-specific receptor tyrosine kinase (MuSK), key molecules in the NMJ formation...
  30. Huijbers M, Zhang W, Klooster R, Niks E, Friese M, Straasheijm K, et al. MuSK IgG4 autoantibodies cause myasthenia gravis by inhibiting binding between MuSK and Lrp4. Proc Natl Acad Sci U S A. 2013;110:20783-8 pubmed publisher
    ..proteins, including (i) acetylcholine receptors, the neurotransmitter receptor, (ii) muscle-specific kinase (MuSK), a receptor tyrosine kinase essential for the formation and maintenance of neuromuscular synapses, and (iii) low-..
  31. Pérez García M, Burden S. Increasing MuSK activity delays denervation and improves motor function in ALS mice. Cell Rep. 2012;2:497-502 pubmed publisher
    ..We crossed SOD1G93A mice with transgenic mice that express MuSK, a receptor tyrosine kinase that is required for retrograde signaling, and we used histological and behavioral ..
  32. Suto J. Development of an efficient method for genotyping at the gd locus in NC/Sgn mice based on PCR-RFLP analysis. J Vet Med Sci. 2012;74:1003-6 pubmed
    ..The location of the gd locus was estimated to be at 58.3 Mbp on chromosome 4, over which Musk is located...
  33. Suto J. A novel growth retardation and abnormal gonad morphology locus on mouse chromosome 4. J Hered. 2009;100:380-5 pubmed publisher
    ..Although the molecular nature of this mutation is unclear, gd promises to make future contribution to relevant diseases in human beings. ..
  34. Hippenmeyer S, Huber R, Ladle D, Murphy K, Arber S. ETS transcription factor Erm controls subsynaptic gene expression in skeletal muscles. Neuron. 2007;55:726-40 pubmed
    ..Together, our findings define Erm as an upstream regulator of a transcriptional program selective to subsynaptic nuclei at the NMJ and underscore the importance of transcriptional control of local synaptic protein accumulation. ..
  35. Hamuro J, Higuchi O, Okada K, Ueno M, Iemura S, Natsume T, et al. Mutations causing DOK7 congenital myasthenia ablate functional motifs in Dok-7. J Biol Chem. 2008;283:5518-24 pubmed publisher
    Dok-7 is a cytoplasmic activator of muscle-specific receptor-tyrosine kinase (MuSK). Both Dok-7 and MuSK are required for neuromuscular synaptogenesis...
  36. Kim C, Xiong W, Mei L. Inhibition of MuSK expression by CREB interacting with a CRE-like element and MyoD. Mol Cell Biol. 2005;25:5329-38 pubmed
    The type I receptor-like protein tyrosine kinase MuSK is essential for the neuromuscular junction formation. MuSK expression is tightly regulated during development, but the underlying mechanisms were unclear...
  37. Reith A. Isolation and chromosomal location of Nsk1, a novel murine putative receptor tyrosine kinase. Mamm Genome. 1995;6:689 pubmed
  38. Scotton P, Bleckmann D, Stebler M, Sciandra F, Brancaccio A, Meier T, et al. Activation of muscle-specific receptor tyrosine kinase and binding to dystroglycan are regulated by alternative mRNA splicing of agrin. J Biol Chem. 2006;281:36835-45 pubmed
    ..This activity requires the receptor-tyrosine kinase MuSK. Agrin isoforms differ in short amino acid stretches at two sites, called A and B, that are localized in the two ..
  39. Kuehn R, Eckler S, Gautam M. Multiple alternatively spliced transcripts of the receptor tyrosine kinase MuSK are expressed in muscle. Gene. 2005;360:83-91 pubmed
    We have cloned and characterized five distinct mouse cDNAs encoding isoforms of MuSK, a receptor tyrosine kinase required for the development of the neuromuscular synapse...
  40. Couesnon A, Offner N, Bernard V, Chaverot N, Backer S, Dimitrov A, et al. CLIPR-59: a protein essential for neuromuscular junction stability during mouse late embryonic development. Development. 2013;140:1583-93 pubmed publisher
    ..Thus, CLIPR-59 is involved in the stabilization of specific motor axons at the NMJ during mouse late embryogenesis and its role is crucial for mouse perinatal development. ..
  41. An M, Lin W, Yang J, Dominguez B, Padgett D, Sugiura Y, et al. Acetylcholine negatively regulates development of the neuromuscular junction through distinct cellular mechanisms. Proc Natl Acad Sci U S A. 2010;107:10702-7 pubmed publisher
    ..Together, these data suggest that ACh negatively regulates axon growth and presynaptic specialization at the neuromuscular junction through distinct cellular mechanisms. ..
  42. Kim C, Xiong W, Mei L. Regulation of MuSK expression by a novel signaling pathway. J Biol Chem. 2003;278:38522-7 pubmed
    b>MuSK is a receptor tyrosine kinase essential for neuromuscular junction formation. Expression of the MuSK gene is tightly regulated during development and at the neuromuscular junction...
  43. Karakatsani A, Marichal N, Urban S, Kalamakis G, Ghanem A, Schick A, et al. Neuronal LRP4 regulates synapse formation in the developing CNS. Development. 2017;144:4604-4615 pubmed publisher
    ..Collectively, our results demonstrate an essential and novel role of neuronal LRP4 in dendritic development and synaptogenesis in the CNS. ..
  44. Strochlic L, Cartaud A, Cartaud J. The synaptic muscle-specific kinase (MuSK) complex: new partners, new functions. Bioessays. 2005;27:1129-35 pubmed
    The muscle-specific kinase MuSK is part of an agrin receptor complex that stimulates tyrosine phosphorylation and drives clustering of acetylcholine receptors (AChRs) in the postsynaptic membrane at the vertebrate neuromuscular junction (..
  45. Kim M, Han I, Koh S, Perrino B. Roles of CaM kinase II and phospholamban in SNP-induced relaxation of murine gastric fundus smooth muscles. Am J Physiol Cell Physiol. 2006;291:C337-47 pubmed
    ..These results demonstrate a novel pathway linking the NO-soluble guanylyl cyclase-cGMP pathway, SR Ca2+ release, PLB, and CaM kinase II to relaxation in gastric fundus smooth muscles. ..
  46. Lin W, Sanchez H, Deerinck T, Morris J, Ellisman M, Lee K. Aberrant development of motor axons and neuromuscular synapses in erbB2-deficient mice. Proc Natl Acad Sci U S A. 2000;97:1299-304 pubmed
    ..The postsynaptic defect features an impairment of junctional folds at the neuromuscular synapse in the mutants. These results demonstrate that erbB2 is essential for in vivo development of the NMJ. ..
  47. Mazhar S, Herbst R. The formation of complex acetylcholine receptor clusters requires MuSK kinase activity and structural information from the MuSK extracellular domain. Mol Cell Neurosci. 2012;49:475-86 pubmed publisher
    ..It was proposed that the formation of complex AChR clusters is regulated by a MuSK-dependent muscle intrinsic program...
  48. Downes G, Gilbert D, Copeland N, Gautam N, Jenkins N. Chromosomal mapping of five mouse G protein gamma subunits. Genomics. 1999;57:173-6 pubmed
    ..Combined with previous mapping studies, these data indicate that, with the possible exception of gamma1 and gamma11, the G protein gamma subunit genes are well dispersed within the mouse and human genomes. ..
  49. Nagata K, Kiryu Seo S, Maeda M, Yoshida K, Morita T, Kiyama H. Damage-induced neuronal endopeptidase is critical for presynaptic formation of neuromuscular junctions. J Neurosci. 2010;30:6954-62 pubmed publisher
    ..These data suggest that DINE is a crucial molecule in distal axonal arborization into muscle to establish neuromuscular junctions. ..
  50. Smith C, Mittaud P, Prescott E, Fuhrer C, Burden S. Src, Fyn, and Yes are not required for neuromuscular synapse formation but are necessary for stabilization of agrin-induced clusters of acetylcholine receptors. J Neurosci. 2001;21:3151-60 pubmed
    ..These data show that the stabilization of agrin-induced AChR clusters requires Src and Fyn and suggest that the adaptor activities, rather than the kinase activities, of these kinases are essential for this stabilization. ..
  51. Punga A, Maj M, Lin S, Meinen S, Ruegg M. MuSK levels differ between adult skeletal muscles and influence postsynaptic plasticity. Eur J Neurosci. 2011;33:890-8 pubmed publisher
    Muscle-specific tyrosine kinase (MuSK) is involved in the formation and maintenance of the neuromuscular junction (NMJ), and is necessary for NMJ integrity...
  52. Chen F, Qian L, Yang Z, Huang Y, Ngo S, Ruan N, et al. Rapsyn interaction with calpain stabilizes AChR clusters at the neuromuscular junction. Neuron. 2007;55:247-60 pubmed
    ..These results demonstrate that calpain participates in ACh-induced dispersion of AChR clusters, and rapsyn stabilizes AChR clusters by suppressing calpain activity. ..
  53. Choi H, Liu Y, Tennert C, Sugiura Y, Karakatsani A, Kroger S, et al. APP interacts with LRP4 and agrin to coordinate the development of the neuromuscular junction in mice. elife. 2013;2:e00220 pubmed publisher
    ..In this study, we show that APP interacts with LRP4, an obligate co-receptor for muscle-specific tyrosine kinase (MuSK). Agrin, a ligand for LRP4, also binds to APP and co-operatively enhances the interaction of APP with LRP4...
  54. Mori S, Kubo S, Akiyoshi T, Yamada S, Miyazaki T, Hotta H, et al. Antibodies against muscle-specific kinase impair both presynaptic and postsynaptic functions in a murine model of myasthenia gravis. Am J Pathol. 2012;180:798-810 pubmed publisher
    ..However, antibodies against muscle-specific kinase (MuSK), which constitute a major subclass of antibodies found in MG patients, do not activate the complement pathway...
  55. Lacazette E, Le Calvez S, Gajendran N, Brenner H. A novel pathway for MuSK to induce key genes in neuromuscular synapse formation. J Cell Biol. 2003;161:727-36 pubmed
    At the developing neuromuscular junction the Agrin receptor MuSK is the central organizer of subsynaptic differentiation induced by Agrin from the nerve...
  56. Antolik C, Catino D, Resneck W, Bloch R. The tetratricopeptide repeat domains of rapsyn bind directly to cytoplasmic sequences of the muscle-specific kinase. Neuroscience. 2006;141:87-100 pubmed
    ..neuromuscular junction is initiated by neural agrin, which stimulates the activity of the muscle-specific kinase (MuSK)...
  57. Ueta R, Tezuka T, Izawa Y, Miyoshi S, Nagatoishi S, Tsumoto K, et al. The carboxyl-terminal region of Dok-7 plays a key, but not essential, role in activation of muscle-specific receptor kinase MuSK and neuromuscular synapse formation. J Biochem. 2017;161:269-277 pubmed publisher
    ..The formation and maintenance of NMJs are controlled by the muscle-specific receptor kinase MuSK. Dok-7 is the essential cytoplasmic activator of MuSK, and indeed mice lacking Dok-7 form no NMJs...
  58. Lin S, Landmann L, Ruegg M, Brenner H. The role of nerve- versus muscle-derived factors in mammalian neuromuscular junction formation. J Neurosci. 2008;28:3333-40 pubmed publisher
    ..g., by patterned expression of the agrin receptor MuSK (muscle-specific kinase) (myocentric model)...
  59. Yilmaz A, Kattamuri C, Ozdeşlik R, Schmiedel C, Mentzer S, Schorl C, et al. MuSK is a BMP co-receptor that shapes BMP responses and calcium signaling in muscle cells. Sci Signal. 2016;9:ra87 pubmed publisher
    ..The receptor tyrosine kinase MuSK (muscle-specific kinase) is critical for neuromuscular junction formation and maintenance...
  60. Ngo S, Cole R, Sunn N, Phillips W, Noakes P. Neuregulin-1 potentiates agrin-induced acetylcholine receptor clustering through muscle-specific kinase phosphorylation. J Cell Sci. 2012;125:1531-43 pubmed publisher
    ..embryonic postsynaptic acetylcholine receptor (AChR) clusters by signalling through the muscle-specific kinase (MuSK) complex...
  61. Simeone L, Straubinger M, Khan M, Nalleweg N, Cheusova T, Hashemolhosseini S. Identification of Erbin interlinking MuSK and ErbB2 and its impact on acetylcholine receptor aggregation at the neuromuscular junction. J Neurosci. 2010;30:6620-34 pubmed publisher
    ..In the CNS, Erbin interacts with PSD-95. Furthermore, agrin-MuSK signaling initiates formation of AChR aggregates at the postsynaptic membrane...
  62. Maselli R, Arredondo J, Cagney O, Ng J, Anderson J, Williams C, et al. Mutations in MUSK causing congenital myasthenic syndrome impair MuSK-Dok-7 interaction. Hum Mol Genet. 2010;19:2370-9 pubmed publisher
    ..syndrome (CMS) caused by two missense mutations in the gene encoding the muscle specific receptor tyrosine kinase (MUSK). The identified MUSK mutations M605I and A727V are both located in the kinase domain of MuSK...
  63. Jones N, Hardy W, Friese M, Jorgensen C, Smith M, Woody N, et al. Analysis of a Shc family adaptor protein, ShcD/Shc4, that associates with muscle-specific kinase. Mol Cell Biol. 2007;27:4759-73 pubmed
    ..pattern, we find that ShcD can associate via its PTB domain with the phosphorylated muscle-specific kinase (MuSK) receptor tyrosine kinase and undergo tyrosine phosphorylation downstream of activated MuSK...
  64. Cartaud A, Strochlic L, Guerra M, Blanchard B, Lambergeon M, Krejci E, et al. MuSK is required for anchoring acetylcholinesterase at the neuromuscular junction. J Cell Biol. 2004;165:505-15 pubmed
    ..experiments in Torpedo postsynaptic membranes together with transfection experiments with muscle-specific kinase (MuSK) constructs in MuSK-deficient myotubes or COS-7 cells provide the first evidence that ColQ binds MuSK...
  65. Tezuka T, Inoue A, Hoshi T, Weatherbee S, Burgess R, Ueta R, et al. The MuSK activator agrin has a separate role essential for postnatal maintenance of neuromuscular synapses. Proc Natl Acad Sci U S A. 2014;111:16556-61 pubmed publisher
    ..The formation and maintenance of NMJs are orchestrated by the muscle-specific receptor tyrosine kinase (MuSK)...
  66. Gartz Hanson M, Niswander L. Rectification of muscle and nerve deficits in paralyzed ryanodine receptor type 1 mutant embryos. Dev Biol. 2015;404:76-87 pubmed publisher
    ..Moreover, we show the involvement of ryanodine receptors in presynaptic release at the NMJ. This data provides evidence of a role for RyR1 on both the pre- and postsynaptic sides of the NMJ. ..
  67. Gautam M, DeChiara T, Glass D, Yancopoulos G, Sanes J. Distinct phenotypes of mutant mice lacking agrin, MuSK, or rapsyn. Brain Res Dev Brain Res. 1999;114:171-8 pubmed
    Differentiation of the postsynaptic membrane at the neuromuscular junction requires agrin, a nerve-derived signal; MuSK, a critical component of the agrin receptor in muscle; and rapsyn, a protein that interacts with acetylcholine ..
  68. Pun S, Sigrist M, Santos A, Ruegg M, Sanes J, Jessell T, et al. An intrinsic distinction in neuromuscular junction assembly and maintenance in different skeletal muscles. Neuron. 2002;34:357-70 pubmed
    ..Our results show that postsynaptic differentiation processes intrinsic to FaSyn and DeSyn muscles influence the formation of NMJs during development and their maintenance in the adult. ..
  69. Morsch M, Reddel S, Ghazanfari N, Toyka K, Phillips W. Pyridostigmine but not 3,4-diaminopyridine exacerbates ACh receptor loss and myasthenia induced in mice by muscle-specific kinase autoantibody. J Physiol. 2013;591:2747-62 pubmed publisher
    ..examined the effects of these compounds in the antibody-induced mouse model of anti-muscle-specific kinase (MuSK) myasthenia gravis. Mice received 14 daily injections of IgG from patients with anti-MuSK myasthenia gravis...
  70. Wang Z, Washabaugh C, Yao Y, Wang J, Zhang L, Ontell M, et al. Aberrant development of motor axons and neuromuscular synapses in MyoD-null mice. J Neurosci. 2003;23:5161-9 pubmed
    ..However, MyoD-/- mice assemble a complex postsynaptic apparatus that includes muscle-specific kinase (MuSK), rapsyn, erbB, and utrophin.