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Data publikacji: 25 maja 2024

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1

Bromann, P. A., H. Zhou i J. R. Sanes. "Kinase- and rapsyn-independent activities of the muscle-specific kinase (MuSK)". Neuroscience 125, nr 2 (styczeń 2004): 417–26. http://dx.doi.org/10.1016/j.neuroscience.2003.12.031.

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Moon, So-Young, Sang-Soo Lee i Yoon-Ho Hong. "Muscle atrophy in muscle-specific tyrosine kinase (MuSK)-related myasthenia gravis". Journal of Clinical Neuroscience 18, nr 9 (wrzesień 2011): 1274–75. http://dx.doi.org/10.1016/j.jocn.2011.01.010.

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Sander, Andreas, Boris A. Hesser i Veit Witzemann. "MuSK induces in vivo acetylcholine receptor clusters in a ligand-independent manner". Journal of Cell Biology 155, nr 7 (17.12.2001): 1287–96. http://dx.doi.org/10.1083/jcb.200105034.

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Muscle-specific receptor tyrosine kinase (MuSK) is required for the formation of the neuromuscular junction. Using direct gene transfer into single fibers, MuSK was expressed extrasynaptically in innervated rat muscle in vivo to identify its contribution to synapse formation. Spontaneous MuSK kinase activity leads, in the absence of its putative ligand neural agrin, to the appearance of ϵ-subunit–specific transcripts, the formation of acetylcholine receptor clusters, and acetylcholinesterase aggregates. Expression of kinase-inactive MuSK did not result in the formation of acetylcholine receptor (AChR) clusters, whereas a mutant MuSK lacking the ectodomain did induce AChR clusters. The contribution of endogenous MuSK was excluded by using genetically altered mice, where the kinase domain of the MuSK gene was flanked by loxP sequences and could be deleted upon expression of Cre recombinase. This allowed the conditional inactivation of endogenous MuSK in single muscle fibers and prevented the induction of ectopic AChR clusters. Thus, the kinase activity of MuSK initiates signals that are sufficient to induce the formation of AChR clusters. This process does not require additional determinants located in the ectodomain.
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4

Koneczny, Inga, Judith Cossins i Angela Vincent. "The role of muscle-specific tyrosine kinase (MuSK) and mystery of MuSK myasthenia gravis". Journal of Anatomy 224, nr 1 (4.03.2013): 29–35. http://dx.doi.org/10.1111/joa.12034.

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Fuhrer, C. "Association of muscle-specific kinase MuSK with the acetylcholine receptor in mammalian muscle". EMBO Journal 16, nr 16 (15.08.1997): 4951–60. http://dx.doi.org/10.1093/emboj/16.16.4951.

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Strochlic, Laure, Annie Cartaud i Jean Cartaud. "The synaptic muscle-specific kinase (MuSK) complex: New partners, new functions". BioEssays 27, nr 11 (2005): 1129–35. http://dx.doi.org/10.1002/bies.20305.

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7

Ali, Hassam, Rahul Pamarthy, Nayab Ahsan, WashmaAwan i Shiza Sarfraz. "Muscle-Specific Tyrosine Kinase-Associated Myasthenia Gravis: A Neuromuscular Surprise". Case Reports in Neurological Medicine 2021 (28.12.2021): 1–3. http://dx.doi.org/10.1155/2021/1326442.

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Myasthenia gravis is a neuromuscular autoimmune disease that results in skeletal muscle weakness that worsens after periods of activity and improves after rest. Myasthenia gravis means “grave (serious), muscle weakness.” Although not completely curable, it can be managed well with a relatively high quality of life and expectancy. In myasthenia gravis, antibodies against the acetylcholine receptors at the neuromuscular junction interfere with regular muscular contraction. Although most commonly caused by antibodies to the acetylcholine receptor, antibodies against MuSK (muscle-specific kinase) protein can also weaken transmission at the neuromuscular junction. Muscle-specific tyrosine kinase myasthenia gravis (MuSK-Ab MG) is a rare subtype of myasthenia gravis with distinct pathogenesis and unique clinical features. Diagnosis can be challenging due to its atypical presentation as compared to seropositive myasthenia gravis. It responds inconsistently to steroids, but plasma exchange and immunosuppressive therapies have shown promising results. We report a case of a 49-year-old female who presented with acute hypoxic respiratory failure. Our patient experienced progressive, undiagnosed MuSK-Ab MG for years without a diagnosis.
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8

Oh, Jeeyoung, Woo Ick Yang, Jeong Hoon Cho i Il Nam Sunwoo. "Muscle-specific receptor tyrosine kinase (MuSK) myasthenia gravis associated with castleman disease". Annals of Clinical Neurophysiology 19, nr 1 (2017): 74. http://dx.doi.org/10.14253/acn.2017.19.1.74.

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9

Atassi, Nazem, i Anthony A. Amato. "Muscle-specific kinase (MuSK) antibody-associated myasthenia gravis after bone marrow transplantation". Muscle & Nerve 38, nr 2 (sierpień 2008): 1074–75. http://dx.doi.org/10.1002/mus.21023.

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10

Benrhouma, Hanene, Hedia Klaa, Rania Ben Aoun, Aida Rouissi, Melika Ben Ahmed, Ichraf Kraoua, Ilhem Ben Youssef-Turki i Thouraya Ben Younes. "Muscle-Specific Kinase Autoimmune Myasthenia Gravis: Report of a Pediatric Case and Literature Review". Neuropediatrics 50, nr 02 (21.12.2018): 116–21. http://dx.doi.org/10.1055/s-0038-1676514.

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AbstractMyasthenia gravis (MG) with antibodies to the muscle-specific tyrosine kinase (MuSK-MG) receptor is a rare entity. It represents 5 to 8% of all MG patients. Few pediatric cases were reported. Clinical presentation is often atypical. It is characterized by predominant involvement of cranial, bulbar, and axial muscles and early respiratory crises. Myokymia and fasciculation are suggestive of MuSK-MG. The clinical course of patients with MuSK-MG is worse than other types of MG. Responses to standard therapies are variable. We report clinical, neurophysiological, serological, and outcome profile of a Tunisian child with MuSK-MG.
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11

Bhaskar, Shalini, i Mohammed Fauzi Bin Abdul Rani. "MuSK-Myasthenia Gravis Unmasked by Hydroxychloroquine". Case Reports in Medicine 2022 (15.07.2022): 1–4. http://dx.doi.org/10.1155/2022/4802538.

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Introduction. Muscle-specific tyrosine kinase (MuSK) antibody positive myasthenia gravis (MuSK-MG) is a rare clinical disorder, and diagnosing it can be challenging. Most of the patients present with predominant facial, oculo-bulbar, and neck muscle weakness along with respiratory muscle involvement. Such a presentation can be mistaken for bulbar onset motor neuron disease or as one of the rare oculopharyngeal myopathies. Case Report. We present a young female patient, who reported to us with neck muscle weakness, ocular and bulbar muscle paralysis, and breathing difficulty. She had been healthy till she was prescribed hydroxychloroquine (HCQ) tablets (400 mg per day) for a malar rash. By the end of the second week after commencing the HCQ therapy, she developed the muscle weakness. Her symptoms began to regress after stopping HCQ and starting steroids, pyridostigmine, and, subsequently, azathioprine. She was negative for anticholinesterase receptor antibodies (AChR-Ab) but was positive for MuSK antibodies (MuSK-Ab). Conclusion. This report proves that MuSK-MG can also be unmasked by HCQ administration. Awareness of drug-induced/-unmasked MG is important, as failure to do so may result in a severe morbidity and a fatal outcome. The offending drug has to be promptly discontinued, and appropriate treatment should be instituted.
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12

Huijbers, Maartje G., Dana L. Vergoossen, Yvonne E. Fillié-Grijpma, Inge E. van Es, Marvyn T. Koning, Linda M. Slot, Hendrik Veelken, Jaap J. Plomp, Silvère M. van der Maarel i Jan J. Verschuuren. "MuSK myasthenia gravis monoclonal antibodies". Neurology - Neuroimmunology Neuroinflammation 6, nr 3 (21.02.2019): e547. http://dx.doi.org/10.1212/nxi.0000000000000547.

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ObjectiveTo isolate and characterize muscle-specific kinase (MuSK) monoclonal antibodies from patients with MuSK myasthenia gravis (MG) on a genetic and functional level.MethodsWe generated recombinant MuSK antibodies from patient-derived clonal MuSK-specific B cells and produced monovalent Fab fragments from them. Both the antibodies and Fab fragments were tested for their effects on neural agrin-induced MuSK phosphorylation and acetylcholine receptor (AChR) clustering in myotube cultures.ResultsThe isolated MuSK monoclonal antibody sequences included IgG1, IgG3, and IgG4 that had undergone high levels of affinity maturation, consistent with antigenic selection. We confirmed their specificity for the MuSK Ig-like 1 domain and binding to neuromuscular junctions. Monovalent MuSK Fab, mimicking functionally monovalent MuSK MG patient Fab-arm exchanged serum IgG4, abolished agrin-induced MuSK phosphorylation and AChR clustering. Surprisingly, bivalent monospecific MuSK antibodies instead activated MuSK phosphorylation and partially induced AChR clustering, independent of agrin.ConclusionsPatient-derived MuSK antibodies can act either as MuSK agonist or MuSK antagonist, depending on the number of MuSK binding sites. Functional monovalency, induced by Fab-arm exchange in patient serum, makes MuSK IgG4 antibodies pathogenic.
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13

Pál, Zsuzsanna, Judit Boczán, Benjamin Bereznai, Gábor Lovas i Mária Judit Molnár. "Treatment of anti-MuSK antibody positive myasthenia gravis". Orvosi Hetilap 152, nr 39 (wrzesień 2011): 1586–89. http://dx.doi.org/10.1556/oh.2011.29177.

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The authors report the case of a 27-year-old woman with muscle-specific receptor tyrosine kinase antibody positive myasthenia with predominantly ocular and bulbar symptoms. Both edrophonium and low dose (4×30 mg/day) pyridostigmin resulted in cholinergic side effects including fasciculation mainly in the facial and neck muscles, and excessive salivation. The patient responded well to a relatively high dose of chronic corticosteroid treatment (methyprednisolone 64mg/day), but the decrease of the corticosteroid dose below 16 mg/day induced exacerbation of the clinical symptoms. Immunosuppression with azathioprine and methotrexate failed to maintain the clinical improvement. However, plasma exchange was always very effective, and all clinical symptoms improved significantly. The authors conclude that patients with muscle-specific receptor tyrosine kinase antibody positive myasthenia gravis should have an individual treatment protocol differing from those used in patients who do not have this antibody but are positive for acetylcholine-receptor antibody. Identification of the pathogenic antibody in the early stage of myasthenia gravis may help to develop the optimal, individualized treatment strategy, to avoid severe side effects, and to achieve fast improvement. Orv. Hetil., 2011, 152, 1586–1589.
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14

Ghazanfari, Nazanin, Marco Morsch, Stephen W. Reddel, Simon X. Liang i William D. Phillips. "Muscle-specific kinase (MuSK) autoantibodies suppress the MuSK pathway and ACh receptor retention at the mouse neuromuscular junction". Journal of Physiology 592, nr 13 (1.07.2014): 2881–97. http://dx.doi.org/10.1113/jphysiol.2013.270207.

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15

Jones, Nina, W. Rod Hardy, Matthew B. Friese, Claus Jorgensen, Matthew J. Smith, Neil M. Woody, Steven J. Burden i Tony Pawson. "Analysis of a Shc Family Adaptor Protein, ShcD/Shc4, That Associates with Muscle-Specific Kinase". Molecular and Cellular Biology 27, nr 13 (23.04.2007): 4759–73. http://dx.doi.org/10.1128/mcb.00184-07.

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ABSTRACT Shc family proteins serve as phosphotyrosine adaptor molecules in various receptor-mediated signaling pathways. In mammals, three distinct Shc genes have been described that encode proteins characterized by two phosphotyrosine-interaction modules, an amino-terminal phosphotyrosine binding (PTB) domain and a carboxy-terminal Src homology 2 domain. Here, we report the analysis of an uncharacterized fourth Shc family protein, ShcD/Shc4, that is expressed in adult brain and skeletal muscle. Consistent with this expression 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. Interestingly, additional sites of tyrosine phosphorylation, including a novel Grb2 binding site, are present on ShcD that are not found in other Shc family proteins. Activation of MuSK upon agrin binding at the neuromuscular junction (NMJ) induces clustering and tyrosine phosphorylation of acetylcholine receptors (AChRs) required for synaptic transmission. ShcD is coexpressed with MuSK in the postsynaptic region of the NMJ, and in cultured myotubes stimulated with agrin, expression of ShcD appears to be important for early tyrosine phosphorylation of the AChR. Thus, we have characterized a new member of the Shc family of docking proteins, which may mediate a specific aspect of signaling downstream of the MuSK receptor.
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16

Elliott, Jeffrey. "A novel MUSK mutation in a patient with CMS9". RRNMF Neuromuscular Journal 4, nr 2 (19.06.2023): 10–15. http://dx.doi.org/10.17161/rrnmf.v4i2.18588.

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Congenital myasthenic syndromes (CMS) are a relatively rare cause of fatigable muscle weakness often with significant ocular, bulbar and respiratory impairment1. Mutations in the gene encoding muscle specific tyrosine kinase (MuSK) can lead to abnormal endplate and acetylcholine receptor functioning and cause an autosomal recessive post-synaptic CMS (CMS9). Only 23 patients with CMS9 have been characterized in the literature since the initial description in 20042. Here, we report a newly diagnosed case of CMS9 in a 23-year-old female who harbored a novel c.296G>T (Cys99Phe) mutation in the MUSK gene, thereby expanding the phenotypic/genotypic characterization of this rare disorder.
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17

Cartaud, Annie, Laure Strochlic, Manuel Guerra, Benoît Blanchard, Monique Lambergeon, Eric Krejci, Jean Cartaud i Claire Legay. "MuSK is required for anchoring acetylcholinesterase at the neuromuscular junction". Journal of Cell Biology 165, nr 4 (24.05.2004): 505–15. http://dx.doi.org/10.1083/jcb.200307164.

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At the neuromuscular junction, acetylcholinesterase (AChE) is mainly present as asymmetric forms in which tetramers of catalytic subunits are associated to a specific collagen, collagen Q (ColQ). The accumulation of the enzyme in the synaptic basal lamina strictly relies on ColQ. This has been shown to be mediated by interaction between ColQ and perlecan, which itself binds dystroglycan. Here, using transfected mutants of ColQ in a ColQ-deficient muscle cell line or COS-7 cells, we report that ColQ clusterizes through a more complex mechanism. This process requires two heparin-binding sites contained in the collagen domain as well as the COOH terminus of ColQ. Cross-linking and immunoprecipitation 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. Together, our data suggest that a ternary complex containing ColQ, perlecan, and MuSK is required for AChE clustering and support the notion that MuSK dictates AChE synaptic localization at the neuromuscular junction.
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18

Magnussen, Marcus, Ioannis Karakis i Taylor B. Harrison. "The Myotonic Plot Thickens: Electrical Myotonia in Antimuscle-Specific Kinase Myasthenia Gravis". Case Reports in Neurological Medicine 2015 (2015): 1–4. http://dx.doi.org/10.1155/2015/242691.

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Electrical myotonia is known to occur in a number of inherited and acquired disorders including myotonic dystrophies, channelopathies, and metabolic, toxic, and inflammatory myopathies. Yet, electrical myotonia in myasthenia gravis associated with antibodies against muscle-specific tyrosine kinase (MuSK) has not been previously reported. We describe two such patients, both of whom had a typical presentation of proximal muscle weakness with respiratory failure in the context of a significant electrodecrement in repetitive nerve stimulation. In both cases, concentric needle examination revealed electrical myotonia combined with myopathic motor unit morphology and early recruitment. These findings suggest that MuSK myasthenia should be included within the differential diagnosis of disorders with electrical myotonia.
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19

Feng, Zhihua, Steven Lam, Elena-Marie Sandino Tenn, Arundhati Sengupta Ghosh, Sarah Cantor, Wei Zhang, Pei-Fen Yen i in. "Activation of Muscle-Specific Kinase (MuSK) Reduces Neuromuscular Defects in the Delta7 Mouse Model of Spinal Muscular Atrophy (SMA)". International Journal of Molecular Sciences 22, nr 15 (27.07.2021): 8015. http://dx.doi.org/10.3390/ijms22158015.

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Spinal muscular atrophy (SMA) is a motor neuron disease caused by insufficient levels of the survival motor neuron (SMN) protein. One of the most prominent pathological characteristics of SMA involves defects of the neuromuscular junction (NMJ), such as denervation and reduced clustering of acetylcholine receptors (AChRs). Recent studies suggest that upregulation of agrin, a crucial NMJ organizer promoting AChR clustering, can improve NMJ innervation and reduce muscle atrophy in the delta7 mouse model of SMA. To test whether the muscle-specific kinase (MuSK), part of the agrin receptor complex, also plays a beneficial role in SMA, we treated the delta7 SMA mice with an agonist antibody to MuSK. MuSK agonist antibody #13, which binds to the NMJ, significantly improved innervation and synaptic efficacy in denervation-vulnerable muscles. MuSK agonist antibody #13 also significantly increased the muscle cross-sectional area and myofiber numbers in these denervation-vulnerable muscles but not in denervation-resistant muscles. Although MuSK agonist antibody #13 did not affect the body weight, our study suggests that preservation of NMJ innervation by the activation of MuSK may serve as a complementary therapy to SMN-enhancing drugs to maximize the therapeutic effectiveness for all types of SMA patients.
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20

Murray, Earnest L., Sachin Kedar i V. V. Vedanarayanan. "Transmission of Maternal Muscle-Specific Tyrosine Kinase (MuSK) to Offspring: Report of Two Cases". Journal of Clinical Neuromuscular Disease 12, nr 2 (grudzień 2010): 76–79. http://dx.doi.org/10.1097/cnd.0b013e3181f8a9aa.

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Thurtell, Matthew J., Jayamala Parmar, Garth A. Nicholson i Stephen W. Reddel. "404: MuSK (muscle specific tyrosine kinase) seropositive and seronegative autoimmune myasthenia gravis in Australasia". Journal of Clinical Neuroscience 14, nr 10 (październik 2007): 1015. http://dx.doi.org/10.1016/j.jocn.2007.02.027.

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22

Fink, H., M. Blobner i J. A. J. Martyn. "Differential Up-Regulation of Muscle Specific Kinase (MuSK) Distant and Local to Burn Site". Journal of Burn Care & Rehabilitation 23 (marzec 2002): S123. http://dx.doi.org/10.1097/00004630-200203002-00162.

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23

Zhou, Lan, John McConville, Vinay Chaudhry, Robert N. Adams, Richard L. Skolasky, Angela Vincent i Daniel B. Drachman. "Clinical comparison of muscle-specific tyrosine kinase (MuSK) antibody-positive and -negative myasthenic patients". Muscle & Nerve 30, nr 1 (2004): 55–60. http://dx.doi.org/10.1002/mus.20069.

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Dziadkowiak, Edyta, Dagmara Baczyńska i Marta Waliszewska-Prosół. "MuSK Myasthenia Gravis—Potential Pathomechanisms and Treatment Directed against Specific Targets". Cells 13, nr 6 (21.03.2024): 556. http://dx.doi.org/10.3390/cells13060556.

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Myasthenia gravis (MG) is an autoimmune disease in which autoantibodies target structures within the neuromuscular junction, affecting neuromuscular transmission. Muscle-specific tyrosine kinase receptor-associated MG (MuSK-MG) is a rare, often more severe, subtype of the disease with different pathogenesis and specific clinical features. It is characterized by a more severe clinical course, more frequent complications, and often inadequate response to treatment. Here, we review the current state of knowledge about potential pathomechanisms of the MuSK-MG and their therapeutic implications as well as ongoing research in this field, with reference to key points of immune-mediated processes involved in the background of myasthenia gravis.
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Zhou, Heather, David J. Glass, George D. Yancopoulos i Joshua R. Sanes. "Distinct Domains of Musk Mediate Its Abilities to Induce and to Associate with Postsynaptic Specializations". Journal of Cell Biology 146, nr 5 (6.09.1999): 1133–46. http://dx.doi.org/10.1083/jcb.146.5.1133.

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Agrin released from motor nerve terminals activates a muscle-specific receptor tyrosine kinase (MuSK) in muscle cells to trigger formation of the skeletal neuromuscular junction. A key step in synaptogenesis is the aggregation of acetylcholine receptors (AChRs) in the postsynaptic membrane, a process that requires the AChR-associated protein, rapsyn. Here, we mapped domains on MuSK necessary for its interactions with agrin and rapsyn. Myotubes from MuSK−/− mutant mice form no AChR clusters in response to agrin, but agrin-responsiveness is restored by the introduction of rat MuSK or a Torpedo orthologue. Thus, MuSK−/− myotubes provide an assay system for the structure–function analysis of MuSK. Using this system, we found that sequences in or near the first of four extracellular immunoglobulin-like domains in MuSK are required for agrin responsiveness, whereas sequences in or near the fourth immunoglobulin-like domain are required for interaction with rapsyn. Analysis of the cytoplasmic domain revealed that a recognition site for the phosphotyrosine binding domain–containing proteins is essential for MuSK activity, whereas consensus binding sites for the PSD-95/Dlg/ZO-1-like domain–containing proteins and phosphatidylinositol-3-kinase are dispensable. Together, our results indicate that the ectodomain of MuSK mediates both agrin- dependent activation of a complex signal transduction pathway and agrin-independent association of the kinase with other postsynaptic components. These interactions allow MuSK not only to induce a multimolecular AChR-containing complex, but also to localize that complex to a primary scaffold in the postsynaptic membrane.
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McConville, J., W. Hoch, J. Newsom-Davies, D. Beeson i A. Vincent. "Autoantibodies to the Muscle Specific Kinase, MuSK in Myasthenia Gravis seronegative for Acetylcholine Receptor Antibodies". Clinical Science 103, s47 (1.07.2002): 68P. http://dx.doi.org/10.1042/cs103068p.

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Lanfranconi, S., S. Corti, P. Baron, G. Conti, L. Borellini, N. Bresolin i A. Bersano. "Anti-MuSK-Positive Myasthenia Gravis in a Patient with Parkinsonism and Cognitive Impairment". Neurology Research International 2011 (2011): 1–4. http://dx.doi.org/10.1155/2011/859802.

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Muscle-specific tyrosine kinase- (MuSK-) antibodies-positive Myasthenia Gravis accounts for about one third of Seronegative Myasthenia Gravis and is clinically characterized by early onset of prominent bulbar, neck, shoulder girdle, and respiratory weakness. The response to medical therapy is generally poor. Here we report a case of late-onset MuSK-antibodies-positive Myasthenia Gravis presenting with signs of cognitive impairment and parkinsonism in addition to bulbar involvement and external ophthalmoplegia. The pattern of involvement of both peripheral and central nervous system dysfunction might suggest a common pathogenic mechanism, involving impaired cholinergic transmission.
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Cao, Michelangelo, Wei-Wei Liu, Susan Maxwell, Saif Huda, Richard Webster, Amelia Evoli, David Beeson, Judith A. Cossins i Angela Vincent. "IgG1-3 MuSK Antibodies Inhibit AChR Cluster Formation, Restored by SHP2 Inhibitor, Despite Normal MuSK, DOK7, or AChR Subunit Phosphorylation". Neurology - Neuroimmunology Neuroinflammation 10, nr 6 (15.08.2023): e200147. http://dx.doi.org/10.1212/nxi.0000000000200147.

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Background and ObjectivesUp to 50% of patients with myasthenia gravis (MG) without acetylcholine receptor antibodies (AChR-Abs) have antibodies to muscle-specific kinase (MuSK). Most MuSK antibodies (MuSK-Abs) are IgG4 and inhibit agrin-induced MuSK phosphorylation, leading to impaired clustering of AChRs at the developing or mature neuromuscular junction. However, IgG1-3 MuSK-Abs also exist in MuSK-MG patients, and their potential mechanisms have not been explored fully.MethodsC2C12 myotubes were exposed to MuSK-MG plasma IgG1-3 or IgG4, with or without purified agrin. MuSK, Downstream of Kinase 7 (DOK7), and βAChR were immunoprecipitated and their phosphorylation levels identified by immunoblotting. Agrin and agrin-independent AChR clusters were measured by immunofluorescence and AChR numbers by binding of125I-α-bungarotoxin. Transcriptomic analysis was performed on treated myotubes.ResultsIgG1-3 MuSK-Abs impaired AChR clustering without inhibiting agrin-induced MuSK phosphorylation. Moreover, the well-established pathway initiated by MuSK through DOK7, resulting in βAChR phosphorylation, was not impaired by MuSK-IgG1-3 and was agrin-independent. Nevertheless, the AChR clusters did not form, and both the number of AChR microclusters that precede full cluster formation and the myotube surface AChRs were reduced. Transcriptomic analysis did not throw light on the pathways involved. However, the SHP2 inhibitor, NSC-87877, increased the number of microclusters and led to fully formed AChR clusters.DiscussionMuSK-IgG1-3 is pathogenic but seems to act through a noncanonical pathway. Further studies should throw light on the mechanisms involved at the neuromuscular junction.
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Chen, Yanxun, Maohao Guan, Fengqiang Yu, Zhongshan Yang, Weiqiang Yi, Xuan Huang, Ruiqin Qiu i Fancai Lai. "Protein Tyrosine Phosphatase Receptor Type R (PTPRR) Reduces AChR Clustering by Dephosphorylating MuSK". Disease Markers 2022 (5.09.2022): 1–10. http://dx.doi.org/10.1155/2022/5160624.

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Neuromuscular junction (NMJ) formation and maintenance depend on the proper localization and concentration of various molecules at synaptic contact sites. Acetylcholine receptor (AChR) clustering on the postsynaptic membrane is a cardinal event in NMJ formation. Muscle-specific tyrosine kinase (MuSK), which functions depending on its phosphorylation, plays an essential role in AChR clustering. In the present study, we used plasmid-based biochemical screening and determined that protein tyrosine phosphatase receptor type R (PTPRR) is responsible for dephosphorylating MuSK on tyrosine residue 754. Furthermore, we showed that PTPRR significantly reduced MuSK-dependent AChR clustering in C2C12 myotubes. Collectively, these data illustrate a negative regulation function of PTPRR in AChR clustering.
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Vergoossen, Dana L. E., Jaap J. Plomp, Christoph Gstöttner, Yvonne E. Fillié-Grijpma, Roy Augustinus, Robyn Verpalen, Manfred Wuhrer i in. "Functional monovalency amplifies the pathogenicity of anti-MuSK IgG4 in myasthenia gravis". Proceedings of the National Academy of Sciences 118, nr 13 (22.03.2021): e2020635118. http://dx.doi.org/10.1073/pnas.2020635118.

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Human immunoglobulin (Ig) G4 usually displays antiinflammatory activity, and observations of IgG4 autoantibodies causing severe autoimmune disorders are therefore poorly understood. In blood, IgG4 naturally engages in a stochastic process termed “Fab-arm exchange” in which unrelated IgG4s exchange half-molecules continuously. The resulting IgG4 antibodies are composed of two different binding sites, thereby acquiring monovalent binding and inability to cross-link for each antigen recognized. Here, we demonstrate that this process amplifies autoantibody pathogenicity in a classic IgG4-mediated autoimmune disease: muscle-specific kinase (MuSK) myasthenia gravis. In mice, monovalent anti-MuSK IgG4s caused rapid and severe myasthenic muscle weakness, whereas the same antibodies in their parental bivalent form were less potent or did not induce a phenotype. Mechanistically this could be explained by opposing effects on MuSK signaling. Isotype switching to IgG4 in an autoimmune response thereby may be a critical step in the development of disease. Our study establishes functional monovalency as a pathogenic mechanism in IgG4-mediated autoimmune disease and potentially other disorders.
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31

Glass, D. J., E. D. Apel, S. Shah, D. C. Bowen, T. M. DeChiara, T. N. Stitt, J. R. Sanes i G. D. Yancopoulos. "Kinase domain of the muscle-specific receptor tyrosine kinase (MuSK) is sufficient for phosphorylation but not clustering of acetylcholine receptors: Required role for the MuSK ectodomain?" Proceedings of the National Academy of Sciences 94, nr 16 (5.08.1997): 8848–53. http://dx.doi.org/10.1073/pnas.94.16.8848.

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Lu, Zhonghua, Hyun-Soo Je, Paul Young, Jimmy Gross, Bai Lu i Guoping Feng. "Regulation of synaptic growth and maturation by a synapse-associated E3 ubiquitin ligase at the neuromuscular junction". Journal of Cell Biology 177, nr 6 (18.06.2007): 1077–89. http://dx.doi.org/10.1083/jcb.200610060.

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The ubiquitin–proteasome pathway has been implicated in synaptic development and plasticity. However, mechanisms by which ubiquitination contributes to precise and dynamic control of synaptic development and plasticity are poorly understood. We have identified a PDZ domain containing RING finger 3 (PDZRN3) as a synapse-associated E3 ubiquitin 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. PDZRN3 binds to MuSK and promotes its ubiquitination. Regulation of cell surface levels of MuSK by PDZRN3 requires the ubiquitin ligase domain and is mediated by accelerated endocytosis. Gain- and loss-of-function studies in cultured myotubes show that regulation of MuSK by PDZRN3 plays an important role in MuSK-mediated nicotinic acetylcholine receptor clustering. Furthermore, overexpression of PDZRN3 in skeletal muscle of transgenic mice perturbs the growth and maturation of the neuromuscular junction. These results identify a synapse-associated E3 ubiquitin ligase as an important regulator of MuSK signaling.
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Huda, Saif, Michelangelo Cao, Anna De Rosa, Mark Woodhall, Pedro M. Rodriguez Cruz, Judith Cossins, Michelangelo Maestri i in. "SHP2 inhibitor protects AChRs from effects of myasthenia gravis MuSK antibody". Neurology - Neuroimmunology Neuroinflammation 7, nr 1 (12.12.2019): e645. http://dx.doi.org/10.1212/nxi.0000000000000645.

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ObjectiveTo determine whether an SRC homology 2 domain-containing phosphotyrosine phosphatase 2 (SHP2) inhibitor would increase muscle-specific kinase (MuSK) phosphorylation and override the inhibitory effect of MuSK-antibodies (Abs).MethodsThe effect of the SHP2 inhibitor NSC-87877 on MuSK phosphorylation and AChR clustering was tested in C2C12 myotubes with 31 MuSK-myasthenia gravis (MG) sera and purified MuSK-MG IgG4 preparations.ResultsIn the absence of MuSK-MG Abs, NSC-87877 increased MuSK phosphorylation and the number of AChR clusters in C2C12 myotubes in vitro and in DOK7-overexpressing C2C12 myotubes that form spontaneous AChR clusters. In the presence of MuSK-MG sera, the AChR clusters were reduced, as expected, but NSC-87877 was able to protect or restore the clusters. Two purified MuSK-MG IgG4 preparations inhibited both MuSK phosphorylation and AChR cluster formation, and in both, clusters were restored with NSC-87877.ConclusionsStimulating the agrin-LRP4-MuSK-DOK7 AChR clustering pathway with NSC-87877, or other drugs, could represent a novel therapeutic approach for MuSK-MG and could potentially improve other NMJ disorders with reduced AChR numbers or disrupted NMJs.
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Yu, Zheng, Meiying Zhang, Hongyang Jing, Peng Chen, Rangjuan Cao, Jinxiu Pan, Bin Luo i in. "Characterization of LRP4/Agrin Antibodies From a Patient With Myasthenia Gravis". Neurology 97, nr 10 (7.07.2021): e975-e987. http://dx.doi.org/10.1212/wnl.0000000000012463.

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Background and ObjectiveTo determine whether human anti-LRP4/agrin antibodies are pathogenic in mice and to investigate underpinning pathogenic mechanisms.MethodsImmunoglobulin (Ig) was purified from a patient with myasthenia gravis (MG) with anti-LRP4/agrin antibodies and transferred to mice. Mice were characterized for body weight, muscle strength, twitch and tetanic force, neuromuscular junction (NMJ) functions including compound muscle action potential (CMAP) and endplate potentials, and NMJ structure. Effects of the antibodies on agrin-elicited muscle-specific tyrosine kinase (MuSK) activation and AChR clustering were studied and the epitopes of these antibodies were identified.ResultsPatient Ig-injected mice had MG symptoms, including weight loss and muscle weakness. Decreased CMAPs, reduced twitch and tetanus force, compromised neuromuscular transmission, and NMJ fragmentation and distortion were detected in patient Ig-injected mice. Patient Ig inhibited agrin-elicited MuSK activation and AChR clustering. The patient Ig recognized the β3 domain of LRP4 and the C-terminus of agrin and reduced agrin-enhanced LRP4–MuSK interaction.DiscussionAnti-LRP4/agrin antibodies in the patient with MG is pathogenic. It impairs the NMJ by interrupting agrin-dependent LRP4–MuSK interaction.
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35

Bromann, Paul A., Joshua A. Weiner, Elizabeth D. Apel, Renate M. Lewis i Joshua R. Sanes. "A putative ariadne-like E3 ubiquitin ligase (PAUL) that interacts with the muscle-specific kinase (MuSK)". Gene Expression Patterns 4, nr 1 (styczeń 2004): 77–84. http://dx.doi.org/10.1016/s1567-133x(03)00146-7.

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Basile, Umberto, Cecilia Napodano, Francesca Gulli, Krizia Pocino, Riccardo Di Santo, Laura Todi, Valerio Basile, Carlo Provenzano, Gabriele Ciasca i Mariapaola Marino. "Laboratory Investigation of Hybrid IgG4 k/λ in MuSK Positive Myasthenia Gravis". International Journal of Molecular Sciences 22, nr 17 (24.08.2021): 9142. http://dx.doi.org/10.3390/ijms22179142.

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Myasthenia gravis with antibodies (Abs) against the muscle-specific tyrosine kinase (MuSK) is a rare autoimmune disorder (AD) of the neuromuscular junction (NMJ) and represents a prototype of AD with proven IgG4-mediated pathogenicity. Thanks to the mechanism of Fab-arm exchange (FAE) occurring in vivo, resulting MuSK IgG4 k/λ Abs increase their interference on NMJ and pathogenicity. The characterization of hybrid MuSK IgG4 as a biomarker for MG management is poorly investigated. Here, we evaluated total IgG4, hybrid IgG4 k/λ, and the hybrid/total ratio in 14 MuSK-MG sera in comparison with 24 from MG with Abs against acetylcholine receptor (AChR) that represents the not IgG4-mediated MG form. In both subtypes of MG, we found that the hybrid/total ratio reflects distribution reported in normal individuals; instead, when we correlated the hybrid/total ratio with specific immune-reactivity we found a positive correlation only with anti-MuSK titer, with a progressive increase of hybrid/total mean values with increasing disease severity, indirectly confirming that most part of hybrid IgG4 molecules are engaged in the anti-MuSK pathogenetic immune-reactivity. Further analysis is necessary to strengthen the significance of this less unknown biomarker, but we retain it is full of a diagnostic-prognostic powerful potential for the management of MuSK-MG.
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Trakas, Nikolaos, Paraskevi Zisimopoulou i Socrates J. Tzartos. "Development of a highly sensitive diagnostic assay for muscle-specific tyrosine kinase (MuSK) autoantibodies in myasthenia gravis". Journal of Neuroimmunology 240-241 (grudzień 2011): 79–86. http://dx.doi.org/10.1016/j.jneuroim.2011.09.007.

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38

Sanders, D. "P01.3 Esophageal adynamia in a patient with muscle specific tyrosine kinase (MuSK) antibody positive myasthenia gravis (MG)". Clinical Neurophysiology 117 (wrzesień 2006): 122. http://dx.doi.org/10.1016/j.clinph.2006.06.180.

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Gros, Katarina, Urška Matkovič, Giulia Parato, Katarina Miš, Elisa Luin, Annalisa Bernareggi, Marina Sciancalepore, Tomaž Marš, Paola Lorenzon i Sergej Pirkmajer. "Neuronal Agrin Promotes Proliferation of Primary Human Myoblasts in an Age-Dependent Manner". International Journal of Molecular Sciences 23, nr 19 (4.10.2022): 11784. http://dx.doi.org/10.3390/ijms231911784.

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Neuronal agrin, a heparan sulphate proteoglycan secreted by the α-motor neurons, promotes the formation and maintenance of the neuromuscular junction by binding to Lrp4 and activating muscle-specific kinase (MuSK). Neuronal agrin also promotes myogenesis by enhancing differentiation and maturation of myotubes, but its effect on proliferating human myoblasts, which are often considered to be unresponsive to agrin, remains unclear. Using primary human myoblasts, we determined that neuronal agrin induced transient dephosphorylation of ERK1/2, while c-Abl, STAT3, and focal adhesion kinase were unresponsive. Gene silencing of Lrp4 and MuSK markedly reduced the BrdU incorporation, suggesting the functional importance of the Lrp4/MuSK complex for myoblast proliferation. Acute and chronic treatments with neuronal agrin increased the proliferation of human myoblasts in old donors, but they did not affect the proliferation of myoblasts in young donors. The C-terminal fragment of agrin which lacks the Lrp4-binding site and cannot activate MuSK had a similar age-dependent effect, indicating that the age-dependent signalling pathways activated by neuronal agrin involve the Lrp4/MuSK receptor complex as well as an Lrp4/MuSK-independent pathway which remained unknown. Collectively, our results highlight an age-dependent role for neuronal agrin in promoting the proliferation of human myoblasts.
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40

Beland, B., C. Hahn, K. Jamani, S. Chhibber, C. White, H. Atkins i J. Storek. "P.035 Autologous hematopoietic stem cell transplant for the treatment of refractory myasthenia gravis with anti-muscle specific kinase antibodies". Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 50, s2 (czerwiec 2023): S67. http://dx.doi.org/10.1017/cjn.2023.139.

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Background: Several case series describe patients with refractory acetylcholine receptor antibody-positive (AChR) myasthenia gravis (MG) treated with hematopoietic stem cell transplant (HSCT). In this report, we describe four patients with anti-muscle-specific kinase (MuSK)MG treated with HSCT. Methods: We reviewed the records of all patients undergoing HSCT for MG in the Alberta Blood and Bone Marrow Transplant Program and identified 4 patients with anti-MuSK MG. Results: All 4 patients had severe disease (Myasthenia Gravis Foundation of America score IVb-V) and were refractory to multiple treatments, including rituximab. 3 patients improved with no clinical manifestations or mild symptoms and remained as such for 2, 3.5, and 5.5 years. In these 3 patients, adverse events ranged from treatable infections and transient dyspnea to persistent fatigue and premature menopause. The average worst Myasthenia Gravis Activities of Daily Living (MG-ADL) scores improved from 14.7 before to 0.3 after HSCT while their mean worst Myasthenia Gravis Quality of Life Questionnaire (MG-QoL15) scores improved from 26.7 to 0. The fourth patient developed pneumonia and passed away from respiratory failure 8 weeks post-transplant. Conclusions: In patients with severe refractory anti-MuSK MG, it may be reasonable to consider HSCT but with an appreciation of the associated risks.
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Skriapa, Lamprini, Paraskevi Zisimopoulou, Nikolaos Trakas, Eirini Grapsa i Socrates J. Tzartos. "Expression of extracellular domains of muscle specific kinase (MuSK) and use as immunoadsorbents for the development of an antigen-specific therapy". Journal of Neuroimmunology 276, nr 1-2 (listopad 2014): 150–58. http://dx.doi.org/10.1016/j.jneuroim.2014.09.013.

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Sherpa, Michael, Ravi K. Metai, Viki Kumar, Tinu Hirachan, Kawser U. Ahmed i Sharon J. Atkinson. "Comorbid Human Immunodeficiency Virus (HIV) and Muscle-Specific Kinase (MuSK) Myasthenia Gravis: A Case Report and Literature Review". American Journal of Case Reports 18 (20.04.2017): 427–30. http://dx.doi.org/10.12659/ajcr.903108.

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43

Jha, Smita, Kaiping Xu, Takahiro Maruta, Minako Oshima, Dennis R. Mosier, M. Zouhair Atassi i Werner Hoch. "Myasthenia gravis induced in mice by immunization with the recombinant extracellular domain of rat muscle-specific kinase (MuSK)". Journal of Neuroimmunology 175, nr 1-2 (czerwiec 2006): 107–17. http://dx.doi.org/10.1016/j.jneuroim.2006.03.016.

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Çetiner, Mustafa, Gönül Akdağ, Fatma Akkoyun Arikan i Sibel Canbaz Kabay. "How to manage MuSK antibody-positive myasthenic crisis during pregnancy?" Ideggyógyászati szemle 75, nr 3-4 (2022): 141–44. http://dx.doi.org/10.18071/isz.75.0141.

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Myasthenia gravis (MG) is an autoimmune disease that is characterised by the formation of antibodies against acetylcholine receptors in the postsynaptic membrane of the neuromuscular junction. The course of the disease cannot be predicted during pregnancy. A subtype of MG with positive muscle-specific receptor tyrosine kinase (anti-MuSK) antibodies exhibits more localised clinical characteristics and a poor response to treatment compared with the disease subtype that involves positivity for acetylcholine receptor antibodies. Myasthenic crisis is more frequently observed in anti-MuSK-positive myasthenia patients. Anti-MuSK-positive myasthenic crisis management is very difficult and a risky situation during pregnancy. The reported case was 30 years old, female, 9 weeks pregnant and musk antibody positive. She stopped her treatment without asking her doctor because she was planning pregnancy in the 6-month period before her hospitalization. She was intubated for a long time in the intensive care unit due to myasthenic crisis and was very resistant to treatment. During this period, her pregnancy was terminated due to fetal anomaly. Plasmapheresis, IVIg and immunosuppressive treatments were applied. Our patient was discharged after a period of about 10 weeks. We share our treatment management.
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45

Strochlic, Laure, Annie Cartaud, Valérie Labas, Werner Hoch, Jean Rossier i Jean Cartaud. "Magi-1c". Journal of Cell Biology 153, nr 5 (28.05.2001): 1127–32. http://dx.doi.org/10.1083/jcb.153.5.1127.

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The muscle-specific receptor tyrosine kinase (MuSK) forms part of a receptor complex, activated by nerve-derived agrin, that orchestrates the differentiation of the neuromuscular junction (NMJ). The molecular events linking MuSK activation with postsynaptic differentiation are not fully understood. In an attempt to identify partners and/or effectors of MuSK, cross-linking and immunopurification experiments were performed in purified postsynaptic membranes from the Torpedo electrocyte, a model system for the NMJ. Matrix-assisted laser desorption ionization–time of flight (MALDI-TOF) analysis was conducted on both cross-link products, and on the major peptide coimmunopurified with MuSK; this analysis identified a polypeptide corresponding to the COOH-terminal fragment of membrane-associated guanylate kinase (MAGUK) with inverted domain organization (MAGI)-1c. A bona fide MAGI-1c (150 kD) was detected by Western blotting in the postsynaptic membrane of Torpedo electrocytes, and in a high molecular mass cross-link product of MuSK. Immunofluorescence experiments showed that MAGI-1c is localized specifically at the adult rat NMJ, but is absent from agrin-induced acetylcholine receptor clusters in myotubes in vitro. In the central nervous system, MAGUKs play a primary role as scaffolding proteins that organize cytoskeletal signaling complexes at excitatory synapses. Our data suggest that a protein from the MAGUK family is involved in the MuSK signaling pathway at the vertebrate NMJ.
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46

Basile, Umberto, Mariapaola Marino, Cecilia Napodano, Krizia Pocino, Paolo Emilio Alboini, Francesca Gulli, Amelia Evoli, Carlo Provenzano i Emanuela Bartoccioni. "Serological Immunoglobulin-Free Light Chain Profile in Myasthenia Gravis Patients". Journal of Immunology Research 2018 (2018): 1–8. http://dx.doi.org/10.1155/2018/9646209.

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Background. Serological levels of free immunoglobulin light chains (FLCs), produced in excess of heavy chains during synthesis of immunoglobulins by plasma cells, can be considered a direct marker of B cell activity in different systemic inflammatory-autoimmune conditions and may represent a useful predictor of rituximab (RTX) therapeutic efficacy, as reported for rheumatoid arthritis and systemic lupus erythematosus. Myasthenia gravis (MG) is an autoimmune disease of the neuromuscular junction with antibodies (abs) targeting the acetylcholine receptor (AChR) or the muscle-specific tyrosine kinase (MuSK), inducing muscle weakness and excessive fatigability. As MG course may be remarkably variable, we evaluated the possible use of FLCs as biomarkers of disease activity. Subjects and Methods. We assessed FLC levels in 34 sera from 17 AChR-MG and from 13 MuSK-MG patients, in comparison with 20 sera from patients with systemic autoimmune rheumatic diseases and 18 from healthy blood donors, along with titers of specific auto-abs and IgG subclass distribution. Results. We found a statistically significant increase in free κ chains in both AChR- and MuSK-MG patients, while free λ chain levels were increased only in AChR-MG. We also observed a significant reduction of both free κ and λ chains in 1/4 MuSK-MG patients along with specific abs titer, two months after RTX treatment. Conclusions. From our data, FLCs appear to be a sensitive marker of B cell activation in MG. Further investigations are necessary to exploit their potential as reliable biomarkers of disease activity.
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Inoue, Ken-ichi, Jun Tsugawa, Jiro Fukae, Kosuke Fukuhara, Hiroyasu Kawano, Shinsuke Fujioka i Yoshio Tsuboi. "Myasthenia Gravis with Anti-Muscle-Specific Tyrosine Kinase Antibody during Pregnancy and Risk of Neonatal Myasthenia Gravis: A Case Report and Review of the Literature". Case Reports in Neurology 12, nr 1 (17.03.2020): 114–20. http://dx.doi.org/10.1159/000506189.

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A 31-year-old woman presented with a nasal voice, dysarthria, and upper limb weakness during her first pregnancy. Soon after delivery of her first baby, her symptoms disappeared. At the age of 34 years, during her second pregnancy, her nasal voice re-appeared. After delivery of the second baby, her nasal voice worsened, and bilateral eyelid ptosis and easy fatigability were also evident. She was referred to our hospital. Because of her myasthenic symptoms and anti-muscle-specific tyrosine kinase (MuSK) antibody (Ab)-positive status, she was diagnosed as having myasthenia gravis (MG). Her symptoms were worse than those in her first pregnancy. She was treated with oral steroid and double filtration plasmapheresis. After initiation of treatment, her myasthenic symptoms improved completely. In addition, her baby developed transient neonatal MG (TNMG) on the fourth day after birth and then gradually recovered over 30 days. It should be noted that symptoms of patients with anti-MuSK Ab-positive MG (MuSK-MG) can deteriorate during pregnancy, and the babies delivered of patients with MuSK-MG have a high probability of developing TNMG.
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48

Çebi, M., H. Durmuş, V. Yılmaz, S. P. Yentür, F. Aysal, P. Oflazer, Y. Parman, F. Deymeer i G. Saruhan‐Direskeneli. "Relation of HLA‐DRB1 to IgG4 autoantibody and cytokine production in muscle‐specific tyrosine kinase myasthenia gravis (MuSK‐MG)". Clinical & Experimental Immunology 197, nr 2 (12.04.2019): 214–21. http://dx.doi.org/10.1111/cei.13302.

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49

Ghazanfari, Nazanin, Erna L. T. B. Linsao, Sofie Trajanovska, Marco Morsch, Paul Gregorevic, Simon X. Liang, Stephen W. Reddel i William D. Phillips. "Forced expression of muscle specific kinase slows postsynaptic acetylcholine receptor loss in a mouse model of MuSK myasthenia gravis". Physiological Reports 3, nr 12 (grudzień 2015): e12658. http://dx.doi.org/10.14814/phy2.12658.

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50

Arman, Sam, Norman Kock, George Mochloulis i Gorande Kanabar. "Bilateral vocal fold paresis: the only presenting sign of anti-MUSK antibody myasthenia gravis". BMJ Case Reports 14, nr 1 (styczeń 2021): e234070. http://dx.doi.org/10.1136/bcr-2019-234070.

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A previously fit and well 53-year-old man was referred to the otolaryngology clinic with intermittent stridor and was found to have bilateral vocal fold paresis. Subsequent airway compromise necessitated emergency surgical tracheostomy. The man was discharged home with tracheostomy in situ and a diagnosis of idiopathic bilateral vocal cord palsy, as all primary investigations were negative. Neurological disease was suspected following readmission to hospital several weeks later with diplopia. Electromyography and serum antibody testing confirmed a diagnosis of anti-muscle-specific tyrosine kinase antibody positive myasthenia gravis (MuSK-MG); a subset of MG where autoantibodies are directed against MuSK. Resolution of bilateral vocal fold paresis was found 8 months after a short course of immunoglobulin (intravenous immunoglobulin (IVIg)) and daily mycophenolate therapy was commenced. Multidisciplinary teamwork between ear, nose and throat surgeons, neurologists and speech therapists enabled successful decannulation of tracheostomy. The patient has recovered well and remains minimally symptomatic.
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