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Dok-7 promotes slow muscle integrity as well as neuromuscular junction formation in a zebrafish model of congenital myasthenic syndromes.
Individuals with DOK7 congenital myasthenic syndrome displayed stridor and feeding difficulties at birth or progressive weakness despite normal milestones in infancy pointing to a diagnosis and should lead to neurophysiological and genetic investigation
this study demonistrated that Salbutamol is an effective treatment in patient wity congenital myasthenic syndrome due to DOK7 mutation.
DOK7 limb-girdle myasthenic syndrome can mimick congenital muscular dystrophy.
Hypermethylation of DOK7 occurs years before tumor diagnosis, suggesting a role as a powerful epigenetic blood-based biomarker as well as providing insights into breast cancer pathogenesis
In contrast to AChR deficiency due to epsilon subunit (show CHRNE ELISA Kits) mutations, onset of DOK7 CMS (show Cd2ap ELISA Kits) tends to be later--ages two to three years--and in DOK7 CMS (show Cd2ap ELISA Kits) eye movements are usually spared and anticholinesterases can exacerbate the weakness
The DOK7 gene is highly polymorphic, and within these many variants, a spectrum of mutations that can underlie DOK7 Congenital myasthenic syndromes that will inform in managing this disorder, were defined.
Sequencing of DOK-7 in seronegative myasthenia gravis patients reveals no mutations.
6 CMS (show Cd2ap ELISA Kits) patients with DOK7 mutations had congenital stridor, bilateral vocal cord palsy and difficulty with feeding
This study demonistreated that DOK7 mutation casused congenital myasthenic syndrome in French Canadians.
these findings demonstrate that missense mutations in MUSK (show MUSK ELISA Kits) can result in a severe form of congenital myasthenic syndrome and indicate that the inability of MuSK (show MUSK ELISA Kits) mutants to interact with Dok-7.
These results demonstrate that correct, physiological levels of dok-7 expression are required for the postnatal maintenance of neuromuscular junctions.
Protein kinase CK2 (show CSNK2A1 ELISA Kits) interacts at the neuromuscular synapse with Rapsyn (show RAPSN ELISA Kits), Rac1, 14-3-3gamma (show YWHAG ELISA Kits), and Dok-7 proteins and phosphorylates the latter two.
Sp1 (show SP1 ELISA Kits) plays a crucial role in the regulation of the dok-7 gene.
Data show a critical role for Crk (show CRK ELISA Kits) and Crk (show CRK ELISA Kits)-L downstream from Dok-7 in presynaptic and postsynaptic differentiation.
The crystal structure of the Dok7 PH-PTB (show PTBP1 ELISA Kits) domains in complex with a phosphopeptide representing the Dok7-binding site on MuSK (show MUSK ELISA Kits), is presented.
Dok-7 is essential for neuromuscular synaptogenesis through its interaction with MuSK (show MUSK ELISA Kits)
the COOH-terminal NES (show NES ELISA Kits) and Src (show SRC ELISA Kits) homology 2 target motifs play key roles in Dok-7/MuSK (show MUSK ELISA Kits) signaling for neuromuscular synaptogenesis.
The protein encoded by this gene is essential for neuromuscular synaptogenesis. The protein functions in aneural activation of muscle-specific receptor kinase, which is required for postsynaptic differentiation, and in the subsequent clustering of the acetylcholine receptor in myotubes. This protein can also induce autophosphorylation of muscle-specific receptor kinase. Mutations in this gene are a cause of familial limb-girdle myasthenia autosomal recessive, which is also known as congenital myasthenic syndrome type 1B. Alternative splicing results in multiple transcript variants.
docking protein 7
, downstream of tyrosine kinase 7
, protein Dok-7
, oncoprotein induced transcript 5