Recent publications published by researchers at the MRC WIMM.
IgG1-3 MuSK Antibodies Inhibit AChR Cluster Formation, Restored by SHP2 Inhibitor, Despite Normal MuSK, DOK7, or AChR Subunit Phosphorylation.
Cao M. et al, (2023), Neurol Neuroimmunol Neuroinflamm, 10
Congenital myasthenic syndrome due to mutations in MUSK suggests that the level of MuSK phosphorylation is crucial for governing synaptic structure.
Rodríguez Cruz PM. et al, (2020), Hum Mutat, 41, 619 - 631
Congenital myasthenic syndrome due to a TOR1AIP1 mutation: a new disease pathway for impaired synaptic transmission.
Cossins J. et al, (2020), Brain Commun, 2
Myasthenic syndromes due to defects in COL13A1 and in the N-linked glycosylation pathway.
Beeson D. et al, (2018), Ann N Y Acad Sci, 1413, 163 - 169
IgG-specific cell-based assay detects potentially pathogenic MuSK-Abs in seronegative MG.
Huda S. et al, (2017), Neurol Neuroimmunol Neuroinflamm, 4
Silencing of Dok-7 in Adult Rat Muscle Increases Susceptibility to Passive Transfer Myasthenia Gravis.
Gomez AM. et al, (2016), Am J Pathol, 186, 2559 - 2568
Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain.
Logan CV. et al, (2015), Am J Hum Genet, 97, 878 - 885
A mouse model of the slow channel myasthenic syndrome: Neuromuscular physiology and effects of ephedrine treatment.
Webster RG. et al, (2013), Exp Neurol, 248, 286 - 298
Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1.
Finlayson S. et al, (2013), J Neurol Neurosurg Psychiatry, 84, 1119 - 1125
Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR.
Zoltowska K. et al, (2013), Hum Mol Genet, 22, 2905 - 2913
Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.
Cossins J. et al, (2013), Brain, 136, 944 - 956
The search for new antigenic targets in myasthenia gravis.
Cossins J. et al, (2012), Ann N Y Acad Sci, 1275, 123 - 128
The effect of dok-7 on acetylcholine receptor clustering in C2C12 cells
Spearman H. et al, (2008), NEUROMUSCULAR DISORDERS, 18, 748 - 748
CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn.
Müller JS. et al, (2006), Brain, 129, 2784 - 2793
Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations
Cossins J. et al, (2006), Brain, 129, 2773 - 2783
Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations.
Cossins J. et al, (2006), Brain, 129, 2773 - 2783
Dok-7 mutations underlie a neuromuscular junction synaptopathy.
Beeson D. et al, (2006), Science, 313, 1975 - 1978
Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes.
Burke G. et al, (2003), Neurology, 61, 826 - 828