Phospho-MUSK (Tyr755) Antibody

1. Gene expression profiling showed that MuSK was required for the BMP4-induced expression of a subset of genes in myoblasts, including regulator of G protein signaling 4 (Rgs4). PMID: 27601729
2. Classical electromyography revealed the presence of myopathic changes more frequently in MuSK myasthenia gravis compared to acetylcholine receptor myasthenia gravis PMID: 26778359
3. A Dutch founder mutation in MUSK causing fetal akinesia deformation sequence has been found in 14 fetuses. PMID: 25537362
4. To our knowledge, this is the first report showing that a mutation in MuSK is associated with Fetal akinesia deformation sequence syndrome PMID: 25612909
5. 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. PMID: 25893403
6. HnRNP C, YB-1 and hnRNP L coordinately enhance skipping of human MUSK exon 10 to generate a Wnt-insensitive MuSK isoform. PMID: 25354590
7. MuSK myasthenia gravis IgG4 disrupts the interaction of LRP4 with MuSK but both IgG4 and IgG1-3 can disperse preformed agrin-independent AChR clusters PMID: 24244707
8. [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. PMID: 24530233
9. 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. PMID: 24183479
10. HEp-2 M4 cells revealed a high specificity for the detection of MuSK autoantibodies from 25 patient sera. PMID: 24416182
11. This study provides a replication of the highly significant associations of both HLA-DRB1( *)16,-DRB1( *)14 and -DQB1( *)05 with MuSK-MG. PMID: 23993985
12. 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. PMID: 24297891
13. We proved that the missense mutations in ColQ-CTD cause endplate AChE deficiency by compromising ColQ-MuSK interaction at the NMJ. PMID: 23553736
14. MUSK is associated with a small but variable subgroup of distinct phenotypes in Thai patients with myasthenia gravis who have MUSK autoantibodies. PMID: 23352351
15. 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. PMID: 23720161
16. 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) PMID: 23467009
17. We report a novel mutation in MUSK leading to a Congenital myasthenic syndromes PMID: 23326516
18. MuSK kinase activity is necessary for substrate-dependent acetylcholine receptor cluster formation PMID: 22210232
19. Two family cases are reported that transmit MuSK antibody myasthenia gravis to the offspring by different maternal mechanisms. PMID: 21386774
20. 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. PMID: 21993075
21. Lrp4 is a cis-acting ligand for MuSK PMID: 21969364
22. 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. PMID: 20974278
23. 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. PMID: 20371544
24. Anti-MuSK protein positive patients have more predominantly bulbar involvement and had more severe myasthenia gravis. PMID: 19327804
25. analysis of regulation of MuSK expression by a novel signaling pathway PMID: 12885777
26. Missense mutation does not affect MuSK catalytic kinase activity but diminishes expression and stability. PMID: 15496425
27. Thus, an agrin/MuSK complex may form part of a motor neuron stop signal involved in "reverse signaling" to the motor neuron. PMID: 15691710
28. A low-molecular weight isoform of muscle-specific receptor tyrosine kinase in human sperm localized in the flagellar mid-piece region. PMID: 16487930
29. Dok-7 is essential for neuromuscular synaptogenesis through its interaction with MuSK PMID: 16794080
30. Altogether, these results indicate that anti-MuSK Abs could be pathogenic by contributing to the muscle atrophy in MuSK+ MG patients. PMID: 16857268
31. muscle-specific receptor tyrosine kinase activation and binding to dystroglycan are regulated by alternative mRNA splicing of agrin PMID: 17012237
32. Testing of human myotubes for the presence and activation of MuSK by exposing them to laminin. PMID: 17192614
33. 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. PMID: 17661994
34. the COOH-terminal NES and Src homology 2 target motifs play key roles in Dok-7/MuSK signaling for neuromuscular synaptogenesis. PMID: 18165682
35. We describe a transient neonatal myasthenic syndrome with anti-musk antibodies. PMID: 18378885
36. IgG from anti-MuSK-positive patients can cause myasthenia gravis when injected into mice. PMID: 18384168
37. 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 PMID: 18567855
38. 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 PMID: 18567856
39. 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. PMID: 19745065
40. This study report a family known so far with a congenital myasthenic syndromes due to a mutation in the MUSK gene. PMID: 19949040

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HGNC: 7525

OMIM: 208150

KEGG: hsa:4593

STRING: 9606.ENSP00000363571

UniGene: Hs.521653