Mutations causing DOK7 congenital myasthenia ablate functional motifs in Dok-7.

scientific article published on 29 December 2007

Mutations causing DOK7 congenital myasthenia ablate functional motifs in Dok-7. is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1074/JBC.M708607200
P698PubMed publication ID18165682

P50authorTohru NatsumeQ56332455
P2093author name stringShun-ichiro Iemura
Hayley Spearman
David Beeson
Kumiko Okada
Osamu Higuchi
Yuji Yamanashi
Makiko Ueno
Johko Hamuro
P2860cites workSleuthing molecular targets for neurological diseases at the neuromuscular junctionQ35120131
Myasthenic syndrome caused by mutation of the SCN4A sodium channelQ35163768
The therapy of congenital myasthenic syndromesQ36774720
Dok-7 mutations underlie a neuromuscular junction synaptopathyQ40242364
Regulation of C2C12 myogenic terminal differentiation by MKK3/p38alpha pathwayQ40688494
Pre- and post-synaptic abnormalities associated with impaired neuromuscular transmission in a group of patients with 'limb-girdle myasthenia'.Q42498797
MUSK, a new target for mutations causing congenital myasthenic syndromeQ45116927
Drosophila Dok is required for embryonic dorsal closureQ46843792
Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromesQ48199451
Light on limb-girdle myastheniaQ48461858
126th International Workshop: congenital myasthenic syndromes, 24-26 September 2004, Naarden, the Netherlands.Q53272034
Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunitQ24306667
Molecular cloning and characterization of p56dok-2 defines a new family of RasGAP-binding proteinsQ24312189
p62(dok): a constitutively tyrosine-phosphorylated, GAP-associated protein in chronic myelogenous leukemia progenitor cellsQ24315152
A beta-subunit mutation in the acetylcholine receptor channel gate causes severe slow-channel syndromeQ24317127
Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinityQ24319151
Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic)Q24539214
Characterization of a novel member of the DOK family that binds and modulates Abl signalingQ24554382
Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humansQ24612220
Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndromeQ24613679
Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndromeQ24669597
Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunitQ24669721
Novel p62dok family members, dok-4 and dok-5, are substrates of the c-Ret receptor tyrosine kinase and mediate neuronal differentiationQ24685580
The muscle protein Dok-7 is essential for neuromuscular synaptogenesisQ28247970
Dok-6, a Novel p62 Dok family member, promotes Ret-mediated neurite outgrowthQ28274931
Clinical features of the DOK7 neuromuscular junction synaptopathyQ28298999
Identification of the Abl- and rasGAP-associated 62 kDa protein as a docking protein, DokQ28302094
CrkII induces serum response factor activation and cellular transformation through its function in Rho activationQ30164525
Congenital myasthenic syndrome caused by low-expressor fast-channel AChR delta subunit mutationQ34166823
Specificity in signal transduction: from phosphotyrosine-SH2 domain interactions to complex cellular systemsQ34292599
Autoimmune channelopathies and related neurological disordersQ34571467
P433issue9
P407language of work or nameEnglishQ1860
P921main subjectcongenital disorderQ727096
P1104number of pages7
P304page(s)5518-5524
P577publication date2007-12-29
P1433published inJournal of Biological ChemistryQ867727
P1476titleMutations causing DOK7 congenital myasthenia ablate functional motifs in Dok-7
P478volume283

Reverse relations

cites work (P2860)
Q34551830A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia.
Q37985524Activation of receptor protein-tyrosine kinases from the cytoplasmic compartment
Q28509926ColQ controls postsynaptic differentiation at the neuromuscular junction
Q27013130Crosstalk between Agrin and Wnt signaling pathways in development of vertebrate neuromuscular junction
Q37795116Docking proteins.
Q38346538Dok-7 promotes slow muscle integrity as well as neuromuscular junction formation in a zebrafish model of congenital myasthenic syndromes
Q34244283Dok-7 regulates neuromuscular synapse formation by recruiting Crk and Crk-L
Q40190415Dok-7/MuSK signaling and a congenital myasthenic syndrome.
Q33611140Downstream of tyrosine kinase/docking protein 6, as a novel substrate of tropomyosin-related kinase C receptor, is involved in neurotrophin 3-mediated neurite outgrowth in mouse cortex neurons
Q34114589Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7
Q46540917Examination of transcript amounts and activity of protein kinase CK2 in muscle lysates of different types of human muscle pathologies
Q50131806Fundamental Molecules and Mechanisms for Forming and Maintaining Neuromuscular Synapses.
Q34345625LRP4 is critical for neuromuscular junction maintenance
Q37409458MuSK IgG4 autoantibodies cause myasthenia gravis by inhibiting binding between MuSK and Lrp4.
Q36085849Multiscale Simulations Suggest a Mechanism for the Association of the Dok7 PH Domain with PIP-Containing Membranes
Q42186779Neuromuscular disease. DOK7 gene therapy benefits mouse models of diseases characterized by defects in the neuromuscular junction
Q43220535Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7.
Q40793178Postnatal knockdown of dok-7 gene expression in mice causes structural defects in neuromuscular synapses and myasthenic pathology
Q42109837Protein kinase CK2 interacts at the neuromuscular synapse with Rapsyn, Rac1, 14-3-3γ, and Dok-7 proteins and phosphorylates the latter two.
Q36480886Sorbs1 and -2 Interact with CrkL and Are Required for Acetylcholine Receptor Cluster Formation
Q38062321Structural mechanisms of the agrin-LRP4-MuSK signaling pathway in neuromuscular junction differentiation.
Q38757489Subcellular compartmentalization of docking protein-1 contributes to progression in colorectal cancer
Q34581104The MuSK activator agrin has a separate role essential for postnatal maintenance of neuromuscular synapses
Q55236647The beta-adrenergic agonist salbutamol modulates neuromuscular junction formation in zebrafish models of human myasthenic syndromes.
Q51052741The carboxyl-terminal region of Dok-7 plays a key, but not essential, role in activation of muscle-specific receptor kinase MuSK and neuromuscular synapse formation.
Q24337679The cytoplasmic adaptor protein Dok7 activates the receptor tyrosine kinase MuSK via dimerization
Q33674551The downstream of tyrosine kinase 7 is reduced in lung cancer and is associated with poor survival of patients with lung cancer
Q39337788The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome