Congenital myasthenia (CM) is a devastating neuromuscular disease, and mutations in
DOK7, an adaptor protein that is crucial for forming and maintaining neuromuscular …

Dok-7 is a cytoplasmic activator of muscle-specific receptor-tyrosine kinase (MuSK). Both
Dok-7 and MuSK are required for neuromuscular synaptogenesis. Mutations in DOK7 …

Congenital myasthenic syndromes (CMSs) are a group of inherited disorders of
neuromuscular transmission characterized by fatigable muscle weakness. One major …

Abstract Dok ('downstream-of-kinase') family of cytoplasmic proteins play a role in signalling
downstream of receptor and non-receptor phosphotyrosine kinases. Recently, a skeletal …

Congenital myasthenic syndromes (CMSs) are a heterogeneous group of diseases caused
by genetic defects affecting neuromuscular transmission. Mutations of DOK7 have recently …

Formation of the vertebrate neuromuscular junction requires, among others proteins, Agrin,
a neuronally derived ligand, and the following muscle proteins: LRP4, the receptor for Agrin; …

Congenital myasthenic syndromes (CMS) are a group of inherited diseases that affect
synaptic transmission at the neuromuscular junction and result in fatiguable muscle …

At the neuromuscular junction, the downstream of tyrosine kinase 7 (DOK7) enhances the
phosphorylation of muscle-specific kinase (MuSK) and induces clustering of acetylcholine …

Skeletal muscle contraction is controlled by motor neurons, which contact the muscle at the
neuromuscular junction (NMJ). The formation and maintenance of the NMJ, which includes …

The neuromuscular junction (NMJ) is the synapse between a motor neuron and skeletal
muscle. Defects in NMJ transmission cause muscle weakness, termed myasthenia. The …