INT312645

Context Info Confidence 0.08 First Reported 2010 Last Reported 2010 Negated 0 Speculated 0 Reported most in Body Documents 1 Total Number 3 Disease Relevance 0.96 Pain Relevance 0.07

plasma membrane (DNAJA3, Musk) unfolded protein binding (DNAJA3) mitochondrion organization (DNAJA3) embryo development (DNAJA3) cytoplasm (DNAJA3) cytosol (DNAJA3)

Anatomy Link Frequency Tid1 2 DNAJA3 (Homo sapiens) Musk (Mus musculus)

Pain Link Frequency Relevance Heat anesthesia 3 70.40 Action potential 3 5.00 imagery 3 5.00

Disease Link Frequency Relevance Heat Congenital Myasthenic Syndromes 66 99.28 Congenital Anomalies 6 78.88 Respiratory Failure 6 61.92 Syndrome 9 61.52 Disease 3 58.64 Muscle Weakness 6 49.16 Myasthenia Gravis 9 5.00 Frailty 3 5.00 Ocular Toxicity (including Many Sub-types) 3 5.00 Cognitive Disorder 3 5.00

Sentences Mentioned In

Key:

Protein

Mutation

Event

Anatomy

Negation

Speculation

Pain term

Disease term

MuSK also binds to the short splice form of the human tumorous imaginal discs (Tid1) protein (12).

Tid1 Binding (binds) of MuSK in Tid1

1) Confidence 0.08 Published 2010 Journal Human Molecular Genetics Section Body Doc Link PMC2876883 Disease Relevance 0.37 Pain Relevance 0

Finally, despite the fact that Tid1 interacts with the intracellular portion of MuSK, the patient's mutations do not affect the relationship between MuSK and Tid1.

Tid1 Binding (interacts) of MuSK

2) Confidence 0.06 Published 2010 Journal Human Molecular Genetics Section Body Doc Link PMC2876883 Disease Relevance 0.31 Pain Relevance 0.07

Our findings demonstrate that missense mutations in MUSK can result in a severe form of CMS and indicate that the inability of MuSK mutants to interact with Dok-7, but not with Lrp4 or Tid1, is a major determinant of the pathogenesis of the CMS caused by MUSK mutations.

Tid1 Binding (interact) of MuSK in Tid1 associated with congenital myasthenic syndromes

3) Confidence 0.06 Published 2010 Journal Human Molecular Genetics Section Abstract Doc Link PMC2876883 Disease Relevance 0.27 Pain Relevance 0

General Comments

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