| The collagen ColQ binds to LRP4 and regulates the activation of the Muscle-Specific Kinase-LRP4 receptor complex by agrin at the neuromuscular junction. | The collagen ColQ binds to LRP4 and regulates the activation of the Muscle-Specific Kinase-LRP4 receptor complex by agrin at the neuromuscular junction.
Uyen Dao TM, Barbeau S, Messéant J, Della-Gaspera B, Bouceba T, Semprez F, Legay C, Dobbertin A., Free PMC Article | 09/1/2023 |
| A mutation in DOK7 in congenital myasthenic syndrome forms aggresome in cultured cells, and reduces DOK7 expression and MuSK phosphorylation in patient-derived iPS cells. | A mutation in DOK7 in congenital myasthenic syndrome forms aggresome in cultured cells, and reduces DOK7 expression and MuSK phosphorylation in patient-derived iPS cells.
Zhang S, Ohkawara B, Ito M, Huang Z, Zhao F, Nakata T, Takeuchi T, Sakurai H, Komaki H, Kamon M, Araki T, Ohno K., Free PMC Article | 04/27/2023 |
| Proteolytic ectodomain shedding of muscle-specific tyrosine kinase in myasthenia gravis. | Proteolytic ectodomain shedding of muscle-specific tyrosine kinase in myasthenia gravis.
Mori S, Suzuki S, Konishi T, Kawaguchi N, Kishi M, Kuwabara S, Ishizuchi K, Zhou H, Shibasaki F, Tsumoto H, Omura T, Miura Y, Mori S, Higashihara M, Murayama S, Shigemoto K. | 02/4/2023 |
| Spotlight on MuSK positive myasthenia gravis: clinical characteristics, treatment and outcomes. | Spotlight on MuSK positive myasthenia gravis: clinical characteristics, treatment and outcomes.
Huang Q, Li F, Zhao S., Free PMC Article | 03/12/2022 |
| Differential Expression of miRNA in the Peripheral Blood Mononuclear Cells in Myasthenia Gravis with Muscle-Specific Receptor Tyrosine Kinase Antibodies. | Differential Expression of miRNA in the Peripheral Blood Mononuclear Cells in Myasthenia Gravis with Muscle-Specific Receptor Tyrosine Kinase Antibodies.
Tan Y, Zhu L, Cui L, Guan Y. | 02/19/2022 |
| Steric and energetic characterizations of mouse and human musk receptors activated by nitro musk smelling compounds at molecular level: Statistical physics treatment and molecular docking analysis. | Steric and energetic characterizations of mouse and human musk receptors activated by nitro musk smelling compounds at molecular level: Statistical physics treatment and molecular docking analysis.
Ben Khemis I, Sagaama A, Issaoui N, Ben Lamine A. | 12/18/2021 |
| Congenital myasthenic syndrome due to mutations in MUSK suggests that the level of MuSK phosphorylation is crucial for governing synaptic structure. | Congenital myasthenic syndrome due to mutations in MUSK suggests that the level of MuSK phosphorylation is crucial for governing synaptic structure.
Rodríguez Cruz PM, Cossins J, Cheung J, Maxwell S, Jayawant S, Herbst R, Waithe D, Kornev AP, Palace J, Beeson D., Free PMC Article | 07/24/2021 |
| Single-cell repertoire tracing identifies rituximab-resistant B cells during myasthenia gravis relapses. | Single-cell repertoire tracing identifies rituximab-resistant B cells during myasthenia gravis relapses.
Jiang R, Fichtner ML, Hoehn KB, Pham MC, Stathopoulos P, Nowak RJ, Kleinstein SH, O'Connor KC., Free PMC Article | 05/22/2021 |
| Congenital myasthenia syndrome in a Chinese family with mutations in MUSK: A hotspot mutation and literature review. | Congenital myasthenia syndrome in a Chinese family with mutations in MUSK: A hotspot mutation and literature review.
Liu Y, Qiao K, Yan C, Song J, Huan X, Luo S, Lu J, Zhao C, Xi J. | 11/21/2020 |
| MUSK mutation is associated with vocal cord paralysis. | Isolated vocal cord paralysis in two siblings with compound heterozygous variants in MUSK: Expanding the phenotypic spectrum.
Murali C, Li D, Grand K, Hakonarson H, Bhoj E., Free PMC Article | 04/25/2020 |
| Though MuSK(+) myasthenia gravis (MG) is still a severe disease, we have observed a steady reduction in the rate of respiratory crisis and a significant improvement in the clinical outcome, both likely related to earlier diagnosis and timely treatment. Despite the improved management, MuSK(+) MG patients tend to remain dependent on long-term immunosuppressive treatment and may develop permanent disabling weakness. Review. | Myasthenia gravis with antibodies to MuSK: an update.
Evoli A, Alboini PE, Damato V, Iorio R, Provenzano C, Bartoccioni E, Marino M. | 08/3/2019 |
| Pathogenic autoantibodies to muscle-specific tyrosine kinase (MuSK) can be found in patients with myasthenia gravis (MG) who do not have detectable antibodies to the acetylcholine receptor. Although the autoantibody-mediated pathology is well understood, much remains to be learned about the cellular immunology that contributes to autoantibody production. Review. | Mechanisms underlying B cell immune dysregulation and autoantibody production in MuSK myasthenia gravis.
Stathopoulos P, Kumar A, Heiden JAV, Pascual-Goñi E, Nowak RJ, O'Connor KC., Free PMC Article | 08/3/2019 |
| Recessive variants of MuSK are associated with late onset Congenital myasthenic syndrome and predominant limb girdle weakness. | Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness.
Owen D, Töpf A, Preethish-Kumar V, Lorenzoni PJ, Vroling B, Scola RH, Dias-Tosta E, Geraldo A, Polavarapu K, Nashi S, Cox D, Evangelista T, Dawson J, Thompson R, Senderek J, Laurie S, Beltran S, Gut M, Gut I, Nalini A, Lochmüller H. | 05/25/2019 |
| Data identified MuSK as a ROR1-binding protein. MuSK interacts with and phosphorylates ROR1 at the cytoplasmic proline-rich domain. | Interaction between ROR1 and MuSK activation complex in myogenic cells.
Karvonen H, Summala K, Niininen W, Barker HR, Ungureanu D. | 01/12/2019 |
| 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). | MuSK is a BMP co-receptor that shapes BMP responses and calcium signaling in muscle cells.
Yilmaz A, Kattamuri C, Ozdeslik RN, Schmiedel C, Mentzer S, Schorl C, Oancea E, Thompson TB, Fallon JR., Free PMC Article | 11/26/2017 |
| Classical electromyography revealed the presence of myopathic changes more frequently in MuSK myasthenia gravis compared to acetylcholine receptor myasthenia gravis | Myopathic changes detected by quantitative electromyography in patients with MuSK and AChR positive myasthenia gravis.
Nikolic A, Basta I, Stojanovic VR, Stevic Z, Peric S, Lavrnic D. | 11/12/2016 |
| A Dutch founder mutation in MUSK causing fetal akinesia deformation sequence has been found in 14 fetuses. | Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence.
Tan-Sindhunata MB, Mathijssen IB, Smit M, Baas F, de Vries JI, van der Voorn JP, Kluijt I, Hagen MA, Blom EW, Sistermans E, Meijers-Heijboer H, Waisfisz Q, Weiss MM, Groffen AJ., Free PMC Article | 05/28/2016 |
| To our knowledge, this is the first report showing that a mutation in MuSK is associated with Fetal akinesia deformation sequence syndrome | MuSK: a new target for lethal fetal akinesia deformation sequence (FADS).
Wilbe M, Ekvall S, Eurenius K, Ericson K, Casar-Borota O, Klar J, Dahl N, Ameur A, Annerén G, Bondeson ML. | 03/5/2016 |
| 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. | Differential Cytokine Changes in Patients with Myasthenia Gravis with Antibodies against AChR and MuSK.
Yilmaz V, Oflazer P, Aysal F, Durmus H, Poulas K, Yentur SP, Gulsen-Parman Y, Tzartos S, Marx A, Tuzun E, Deymeer F, Saruhan-Direskeneli G., Free PMC Article | 01/16/2016 |
| HnRNP C, YB-1 and hnRNP L coordinately enhance skipping of human MUSK exon 10 to generate a Wnt-insensitive MuSK isoform. | HnRNP C, YB-1 and hnRNP L coordinately enhance skipping of human MUSK exon 10 to generate a Wnt-insensitive MuSK isoform.
Nasrin F, Rahman MA, Masuda A, Ohe K, Takeda J, Ohno K., Free PMC Article | 11/14/2015 |
| MuSK myasthenia gravis IgG4 disrupts the interaction of LRP4 with MuSK but both IgG4 and IgG1-3 can disperse preformed agrin-independent AChR clusters | MuSK myasthenia gravis IgG4 disrupts the interaction of LRP4 with MuSK but both IgG4 and IgG1-3 can disperse preformed agrin-independent AChR clusters.
Koneczny I, Cossins J, Waters P, Beeson D, Vincent A., Free PMC Article | 02/28/2015 |
| [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. | Diagnostic and clinical classification of autoimmune myasthenia gravis.
Berrih-Aknin S, Frenkian-Cuvelier M, Eymard B. | 10/4/2014 |
| 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. | Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK.
Gallenmüller C, Müller-Felber W, Dusl M, Stucka R, Guergueltcheva V, Blaschek A, von der Hagen M, Huebner A, Müller JS, Lochmüller H, Abicht A., Free PMC Article | 09/13/2014 |
| HEp-2 M4 cells revealed a high specificity for the detection of MuSK autoantibodies from 25 patient sera. | Stable expression of human muscle-specific kinase in HEp-2 M4 cells for automatic immunofluorescence diagnostics of myasthenia gravis.
George S, Paulick S, Knütter I, Röber N, Hiemann R, Roggenbuck D, Conrad K, Küpper JH., Free PMC Article | 09/13/2014 |
| This study provides a replication of the highly significant associations of both HLA-DRB1( *)16,-DRB1( *)14 and -DQB1( *)05 with MuSK-MG. | Association of HLA-DRB1∗14, -DRB1∗16 and -DQB1∗05 with MuSK-myasthenia gravis in patients from Turkey.
Alahgholi-Hajibehzad M, Yilmaz V, Gülsen-Parman Y, Aysal F, Oflazer P, Deymeer F, Saruhan-Direskeneli G. | 07/19/2014 |