Property Summary

NCBI Gene PubMed Count 53
PubMed Score 426.10
PubTator Score 231.18

Knowledge Summary

Patent (86,209)

Expression

  Differential Expression (3)

Disease log2 FC p
medulloblastoma, large-cell 1.100 4.6e-05
posterior fossa group B ependymoma 1.500 3.0e-04
lung carcinoma -1.400 4.8e-15

MLP Assay (1)

AID Type Active / Inconclusive / Inactive Description
1982 other 0 / 0 / 0 Kinase inhibition selectivity assay for compound SID-48409448

Gene RIF (40)

PMID Text
26778359 Classical electromyography revealed the presence of myopathic changes more frequently in MuSK myasthenia gravis compared to acetylcholine receptor myasthenia gravis
25893403 Immunosuppression attenuates the Th1 response in AChR-myasthenia gravis (MG) and MuSK-MG, but otherwise modulates immune responses in AChR-MG and MuSK-MG patients differentially.
25612909 To our knowledge, this is the first report showing that a mutation in MuSK is associated with Fetal akinesia deformation sequence syndrome
25537362 A Dutch founder mutation in MUSK causing fetal akinesia deformation sequence has been found in 14 fetuses.
25354590 HnRNP C, YB-1 and hnRNP L coordinately enhance skipping of human MUSK exon 10 to generate a Wnt-insensitive MuSK isoform.
24530233 [review] Recent discovery of two novel target proteins (MuSK and LRP4) has reduced the percentage of patients without known autoantibodies, although there are still some seronegative myasthenia gravis patients.
24447338 The amplified luminescent proximity homogeneous assay (AlphaScreen) identifies the interaction of HIV-1 Gag with MUSK
24416182 HEp-2 M4 cells revealed a high specificity for the detection of MuSK autoantibodies from 25 patient sera.
24297891 pathogenic IgG4 antibodies to MuSK bind to a structural epitope in the first Ig-like domain of MuSK, prevent binding between MuSK and Lrp4, and inhibit Agrin-stimulated MuSK phosphorylation.
24244707 MuSK myasthenia gravis IgG4 disrupts the interaction of LRP4 with MuSK but both IgG4 and IgG1-3 can disperse preformed agrin-independent AChR clusters
24183479 Identification of a novel missense mutation c.114T > A; p.Asp38Glu heteroallelic to a genomic deletion encompassing exons 2-3 of MUSK that explain a limb-girdle congenital myasthenic syndrome in two affected brothers of a Turkish family.
23993985 This study provides a replication of the highly significant associations of both HLA-DRB1( *)16,-DRB1( *)14 and -DQB1( *)05 with MuSK-MG.
23720161 MUSK antibodies may induce phenotypically disruptive actions at the neuromuscular junction by binding acetylcholinesterase (AChE) via its collagen tail, producing a reduction in synaptic AChE activity.
23553736 We proved that the missense mutations in ColQ-CTD cause endplate AChE deficiency by compromising ColQ-MuSK interaction at the NMJ.
23467009 MuSK is activated in a complex spatio-temporal manner to cluster acetylcholine receptors on the postsynaptic (muscle) side of the synapse and to induce differentiation of the nerve terminal on the presynaptic side. (Review)
23352351 MUSK is associated with a small but variable subgroup of distinct phenotypes in Thai patients with myasthenia gravis who have MUSK autoantibodies.
23326516 We report a novel mutation in MUSK leading to a Congenital myasthenic syndromes
22210232 MuSK kinase activity is necessary for substrate-dependent acetylcholine receptor cluster formation
21993075 The ability of immobilized MuSK extracellular domain to remove practically all anti-MuSK antibodies from patients' sera should prove invaluable for development of an antigen-specific therapeutic approach for MuSK myasthenia gravis.
21969364 Lrp4 is a cis-acting ligand for MuSK
21386774 Two family cases are reported that transmit MuSK antibody myasthenia gravis to the offspring by different maternal mechanisms.
20974278 The importance of MuSK as a synapse organiser is highlighted by cases of autoimmune myasthenia gravis in which MuSK autoantibodies can deplete MuSK from the postsynaptic membrane, leading to complete disassembly of the adult neuromuscular junction.
20371544 these findings demonstrate that missense mutations in MUSK can result in a severe form of congenital myasthenic syndrome and indicate that the inability of MuSK mutants to interact with Dok-7.
19949040 This study report a family known so far with a congenital myasthenic syndromes due to a mutation in the MUSK gene.
19745065 Anti-MuSK antibodies influence the activity of MuSK molecules without reducing their number, thereby diminishing the size of the endplate and affecting the functioning of acetylcholine receptors.
19327804 Anti-MuSK protein positive patients have more predominantly bulbar involvement and had more severe myasthenia gravis.
18567856 Thymectomy is mostly considered scarcely effective; however, at present, no firm conclusions can be drawn on its role in the treatment of this form of myasthenia gravis
18567855 single-fiber electromyography of distal limb muscles tends to have a lower yield of abnormality in MuSK-antibody-positive patients than either acetylcholine receptor-antibody-positive or seronegative myasthenia gravis
18384168 IgG from anti-MuSK-positive patients can cause myasthenia gravis when injected into mice.
18378885 We describe a transient neonatal myasthenic syndrome with anti-musk antibodies.
18165682 the COOH-terminal NES and Src homology 2 target motifs play key roles in Dok-7/MuSK signaling for neuromuscular synaptogenesis.
17661994 We describe a case of epileptic seizures secondary to myasthenia gravis caused by autoantibodies to the MUSK receptor. These autoantibodies affected the brain as well.
17192614 Testing of human myotubes for the presence and activation of MuSK by exposing them to laminin.
17012237 muscle-specific receptor tyrosine kinase activation and binding to dystroglycan are regulated by alternative mRNA splicing of agrin
16857268 Altogether, these results indicate that anti-MuSK Abs could be pathogenic by contributing to the muscle atrophy in MuSK+ MG patients.
16794080 Dok-7 is essential for neuromuscular synaptogenesis through its interaction with MuSK
16487930 A low-molecular weight isoform of muscle-specific receptor tyrosine kinase in human sperm localized in the flagellar mid-piece region.
15691710 Thus, an agrin/MuSK complex may form part of a motor neuron stop signal involved in "reverse signaling" to the motor neuron.
15496425 Missense mutation does not affect MuSK catalytic kinase activity but diminishes expression and stability.
12885777 analysis of regulation of MuSK expression by a novel signaling pathway

AA Sequence

MRELVNIPLVHILTLVAFSGTEKLPKAPVITTPLETVDALVEEVATFMCAVESYPQPEISWTRNKILIKL      1 - 70
FDTRYSIRENGQLLTILSVEDSDDGIYCCTANNGVGGAVESCGALQVKMKPKITRPPINVKIIEGLKAVL     71 - 140
PCTTMGNPKPSVSWIKGDSPLRENSRIAVLESGSLRIHNVQKEDAGQYRCVAKNSLGTAYSKVVKLEVEV    141 - 210
FARILRAPESHNVTFGSFVTLHCTATGIPVPTITWIENGNAVSSGSIQESVKDRVIDSRLQLFITKPGLY    211 - 280
TCIATNKHGEKFSTAKAAATISIAEWSKPQKDNKGYCAQYRGEVCNAVLAKDALVFLNTSYADPEEAQEL    281 - 350
LVHTAWNELKVVSPVCRPAAEALLCNHIFQECSPGVVPTPIPICREYCLAVKELFCAKEWLVMEEKTHRG    351 - 420
LYRSEMHLLSVPECSKLPSMHWDPTACARLPHLDYNKENLKTFPPMTSSKPSVDIPNLPSSSSSSFSVSP    421 - 490
TYSMTVIISIMSSFAIFVLLTITTLYCCRRRKQWKNKKRESAAVTLTTLPSELLLDRLHPNPMYQRMPLL    491 - 560
LNPKLLSLEYPRNNIEYVRDIGEGAFGRVFQARAPGLLPYEPFTMVAVKMLKEEASADMQADFQREAALM    561 - 630
AEFDNPNIVKLLGVCAVGKPMCLLFEYMAYGDLNEFLRSMSPHTVCSLSHSDLSMRAQVSSPGPPPLSCA    631 - 700
EQLCIARQVAAGMAYLSERKFVHRDLATRNCLVGENMVVKIADFGLSRNIYSADYYKANENDAIPIRWMP    701 - 770
PESIFYNRYTTESDVWAYGVVLWEIFSYGLQPYYGMAHEEVIYYVRDGNILSCPENCPVELYNLMRLCWS    771 - 840
KLPADRPSFTSIHRILERMCERAEGTVSV                                             841 - 869
//

Text Mined References (58)

PMID Year Title
26778359 2016 Myopathic changes detected by quantitative electromyography in patients with MuSK and AChR positive myasthenia gravis.
25893403 2015 Differential Cytokine Changes in Patients with Myasthenia Gravis with Antibodies against AChR and MuSK.
25612909 2015 MuSK: a new target for lethal fetal akinesia deformation sequence (FADS).
25537362 2015 Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence.
25354590 2014 HnRNP C, YB-1 and hnRNP L coordinately enhance skipping of human MUSK exon 10 to generate a Wnt-insensitive MuSK isoform.
25029443 2014 Evolutionary divergence in the catalytic activity of the CAM-1, ROR1 and ROR2 kinase domains.
24530233 Diagnostic and clinical classification of autoimmune myasthenia gravis.
24416182 2014 Stable expression of human muscle-specific kinase in HEp-2 M4 cells for automatic immunofluorescence diagnostics of myasthenia gravis.
24297891 2013 MuSK IgG4 autoantibodies cause myasthenia gravis by inhibiting binding between MuSK and Lrp4.
24244707 2013 MuSK myasthenia gravis IgG4 disrupts the interaction of LRP4 with MuSK but both IgG4 and IgG1-3 can disperse preformed agrin-independent AChR clusters.
24183479 2014 Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK.
23993985 2013 Association of HLA-DRB1?14, -DRB1?16 and -DQB1?05 with MuSK-myasthenia gravis in patients from Turkey.
23720161 2013 Muscle-specific kinase antibodies: a novel cause of peripheral nerve hyperexcitability?
23553736 2013 Mutations in the C-terminal domain of ColQ in endplate acetylcholinesterase deficiency compromise ColQ-MuSK interaction.
23467009 2013 Structure and activation of MuSK, a receptor tyrosine kinase central to neuromuscular junction formation.
23386860 2013 Exploring genome-wide - dietary heme iron intake interactions and the risk of type 2 diabetes.
23382219 2013 Structural basis for endosomal trafficking of diverse transmembrane cargos by PX-FERM proteins.
23352351 2013 Prevalence, clinical features and treatment outcomes of patients with myasthenia gravis positive for antibodies to muscle-specific kinase in Thailand.
23326516 2013 A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia.
22939624 2012 Quantitative analysis of HSP90-client interactions reveals principles of substrate recognition.
22424883 2012 Genome-wide association study of lung function decline in adults with and without asthma.
22210232 2012 The formation of complex acetylcholine receptor clusters requires MuSK kinase activity and structural information from the MuSK extracellular domain.
21993075 2011 Development of a highly sensitive diagnostic assay for muscle-specific tyrosine kinase (MuSK) autoantibodies in myasthenia gravis.
21969364 2011 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).
21386774 2010 Transmission of maternal muscle-specific tyrosine kinase (MuSK) to offspring: report of two cases.
20974278 2011 Muscle specific kinase: organiser of synaptic membrane domains.
20603078 2010 The cytoplasmic adaptor protein Dok7 activates the receptor tyrosine kinase MuSK via dimerization.
20596523 2010 Development and validation of a method for profiling post-translational modification activities using protein microarrays.
20371544 2010 Mutations in MUSK causing congenital myasthenic syndrome impair MuSK-Dok-7 interaction.
19949040 2009 Refinement of the clinical phenotype in musk-related congenital myasthenic syndromes.
19745065 2009 The effect of plasma from muscle-specific tyrosine kinase myasthenia patients on regenerating endplates.
19327804 2009 [Seronegative myasthenia and myasthenia gravis with anti-MuSK antibody: a retrospective study of 20 cases].
18567856 2008 Response to therapy in myasthenia gravis with anti-MuSK antibodies.
18567855 2008 Clinical phenotype of muscle-specific tyrosine kinase-antibody-positive myasthenia gravis.
18384168 2008 Anti-MuSK patient antibodies disrupt the mouse neuromuscular junction.
18378885 2008 A transient neonatal myasthenic syndrome with anti-musk antibodies.
18165682 2008 Mutations causing DOK7 congenital myasthenia ablate functional motifs in Dok-7.
17661994 2007 Is cerebral involvement an occasional feature of muscle-specific kinase antibody-positive syndrome?
17344846 2007 Patterns of somatic mutation in human cancer genomes.
17192614 2006 Expression of MuSK in in vitro-innervated human muscle.
17012237 2006 Activation of muscle-specific receptor tyrosine kinase and binding to dystroglycan are regulated by alternative mRNA splicing of agrin.
16857268 2006 Major pathogenic effects of anti-MuSK antibodies in myasthenia gravis.
16794080 2006 The muscle protein Dok-7 is essential for neuromuscular synaptogenesis.
16487930 2006 Identification of agrinSN isoform and muscle-specific receptor tyrosine kinase (MuSK) [corrected] in sperm.
15691710 2005 Motor neurite outgrowth is selectively inhibited by cell surface MuSK and agrin.
15496425 2004 MUSK, a new target for mutations causing congenital myasthenic syndrome.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15164053 2004 DNA sequence and analysis of human chromosome 9.
15159418 2004 MuSK is required for anchoring acetylcholinesterase at the neuromuscular junction.
12885777 2003 Regulation of MuSK expression by a novel signaling pathway.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11754179 2002 The agrin/muscle-specific kinase pathway: new targets for autoimmune and genetic disorders at the neuromuscular junction.
10878022 2000 Syne-1, a dystrophin- and Klarsicht-related protein associated with synaptic nuclei at the neuromuscular junction.
10477765 1999 Distinct domains of MuSK mediate its abilities to induce and to associate with postsynaptic specializations.
9136771 1997 Rapsyn is required for MuSK signaling and recruits synaptic components to a MuSK-containing scaffold.
8653786 1996 The receptor tyrosine kinase MuSK is required for neuromuscular junction formation in vivo.
8274451 1993 Identification of 21 novel human protein kinases, including 3 members of a family related to the cell cycle regulator nimA of Aspergillus nidulans.
7546737 1995 Receptor tyrosine kinase specific for the skeletal muscle lineage: expression in embryonic muscle, at the neuromuscular junction, and after injury.