INT312594

Context Info Confidence 0.42 First Reported 2010 Last Reported 2010 Negated 0 Speculated 0 Reported most in Body Documents 1 Total Number 4 Disease Relevance 1.05 Pain Relevance 0

lipid binding (Dok7) plasma membrane (Dok7)

Dok7 (Mus musculus)

Pain Link Frequency Relevance Heat anesthesia 4 5.00 Action potential 4 5.00 imagery 4 5.00

Disease Link Frequency Relevance Heat Congenital Myasthenic Syndromes 88 98.44 Congenital Anomalies 8 79.28 Myasthenia Gravis 12 5.00 Syndrome 12 5.00 Respiratory Failure 8 5.00 Muscle Weakness 8 5.00 Frailty 4 5.00 Ocular Toxicity (including Many Sub-types) 4 5.00 Cognitive Disorder 4 5.00 Disease 4 5.00

Sentences Mentioned In

Key:

Protein

Mutation

Event

Anatomy

Negation

Speculation

Pain term

Disease term

Our expression studies have identified impairment of MuSK phosphorylation and MuSK–Dok-7 interaction as central to the pathogenesis of the CMS described here.

Dok-7 Binding (interaction) of associated with congenital myasthenic syndromes

1) Confidence 0.42 Published 2010 Journal Human Molecular Genetics Section Body Doc Link PMC2876883 Disease Relevance 0.23 Pain Relevance 0

Finally, A727V, by virtue of being located in the catalytic loop of the enzyme, results in drastic impairment of phosphorylation and MuSK–Dok-7 interaction.

Dok-7 Binding (interaction) of

2) Confidence 0.42 Published 2010 Journal Human Molecular Genetics Section Body Doc Link PMC2876883 Disease Relevance 0.31 Pain Relevance 0

MuSK phorphorylation and MuSK–Dok-7 interaction are fundamental steps of synaptic development since tyrosine autophosphorylation radically increases the catalytic activity of MuSK (21) and the recruitment of proteins containing the PTB binding domain, such as Dok-7, is essential for the downstream propagation of signaling events (33).

Dok-7 Binding (interaction) of

3) Confidence 0.42 Published 2010 Journal Human Molecular Genetics Section Body Doc Link PMC2876883 Disease Relevance 0.22 Pain Relevance 0

In contrast, M605I results in moderate impairment of both phosphorylation and binding to Dok-7.

Dok-7 Binding (binding) of

4) Confidence 0.32 Published 2010 Journal Human Molecular Genetics Section Body Doc Link PMC2876883 Disease Relevance 0.28 Pain Relevance 0

General Comments

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