About: Mutations in MUSK causing congenital myasthenic syndrome impair MuSK-Dok-7 interaction

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About: Mutations in MUSK causing congenital myasthenic syndrome impair MuSK-Dok-7 interaction Goto Sponge NotDistinct Permalink

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description	2010 թվականի հունիսին հրատարակված գիտական հոդված (hy) artículu científicu espublizáu en 2010 (ast) vědecký článek publikovaný v roce 2010 (cs) наукова стаття, опублікована в червні 2010 (uk) 2010 թուականի Յունիսին հրատարակուած գիտական յօդուած (hyw) article scientifique publié en 2010 (fr) im Juni 2010 veröffentlichter wissenschaftlicher Artikel (de) wetenschappelijk artikel (gepubliceerd op 2010/06/15) (nl) vedecký článok (publikovaný 2010/06/15) (sk) مقالة علمية (نشرت في 15-6-2010) (ar) scientific journal article (en)
publication date	wds:Q28589320-4D1932A8-A167-4520-9E93-5E5C1A626D03
publication date	2010-06-15 00:00:00Z (xsd:dateTime)
cites work	wds:Q28589320-09AF39DB-44E7-49C6-8D75-ECBE1F851E16 wds:Q28589320-0DEB6A6D-0CF5-41CF-A89B-7956BF29268A wds:Q28589320-0F36AE12-A95A-4564-A09D-ACF3FF740E94 wds:Q28589320-107A3E53-171A-4F93-8E80-4045E0931061 wds:Q28589320-1AE16A9A-B406-4C2F-ADF1-631082E567A5 wds:Q28589320-1B59E650-9461-47DF-AC4D-246929838425 wds:Q28589320-26FBBDB6-7B6E-4826-8284-EA173B4D2F57 wds:Q28589320-2CB7AA9D-4D55-4C6E-8AD1-BA90E7DFD93D wds:Q28589320-393EDACE-134B-4E64-B544-EFCEFE3413FB wds:Q28589320-3DA8AD68-2943-4790-A592-6619FE39ACE4 wds:Q28589320-3FBD4EE9-0C0F-4030-A090-7054EB412C7C wds:Q28589320-40AE56C1-4EFD-406F-A46B-FB042BB49342 wds:Q28589320-501306A7-C6D7-4054-B333-01536CA51909 wds:Q28589320-53D47A76-8834-4468-A187-09F098AC6926 wds:Q28589320-552DF3E3-201F-4BB4-A617-81C64BE798BB wds:Q28589320-5F7BCB13-F865-4694-A831-E28293C9CB04 wds:Q28589320-7010E64F-49A9-4184-92AE-134AEFE7B11C wds:Q28589320-757D4970-7FC8-4BBE-B7D1-CBEAF9F4C795 wds:Q28589320-78DEFA32-23BB-4D11-A948-0217C8E92F6D wds:Q28589320-7C8848AA-32A0-48A5-B796-145DF714068B wds:Q28589320-862AA213-A1EC-4215-A69A-0EA027D0CA5E wds:Q28589320-86900770-06F6-4589-ADC1-3333339F4CB3 wds:Q28589320-8CCDB82B-E9EB-42B3-A234-7153A74DF24F wds:Q28589320-8EE8E914-B863-4C2B-B3B2-51FF3E057FB7 wds:Q28589320-A0EBF33B-B463-45B3-91E8-6AB7759122AA wds:Q28589320-A2A98417-10DF-4E5B-AFCB-ED5CB0E901E5 wds:Q28589320-A4147C3D-C52E-4DF7-8FB1-32A7DE5BF739 wds:Q28589320-A4B6AF9B-30C0-4D0F-A6C5-870D399733C4 wds:Q28589320-A7CBBD10-ED3A-4D71-980D-47CD1C8DF95B wds:Q28589320-AD326B38-A647-4DF5-AB0E-8E31813E5CE3 wds:Q28589320-B08D10A8-C274-4856-AC7F-F28ABE7821E6 wds:Q28589320-C46E6C51-15E2-47CA-860A-BCE0C88152FB wds:Q28589320-C83E5889-3391-4121-B604-7EAB9563695F wds:Q28589320-C94E28B1-A120-4F36-911B-C439188F409F wds:Q28589320-CE1CEE5D-9569-4FB3-AFAF-9E667CF96CA8 wds:Q28589320-D89D2C4F-B20C-4B93-82FD-27952A438AC3 wds:Q28589320-E48C394D-D4E6-40B7-A025-169ED5C6BD2B wds:Q28589320-E4BEB974-AC09-49ED-A8E0-63DF902F5690 wds:Q28589320-F0F5E009-EE93-4BBF-980F-850021E90156 wds:Q28589320-FF0C6C53-BACC-4FB7-B6B1-D7C53C80587C
cites work	Distinct phenotypes of mutant mice lacking agrin, MuSK, or rapsyn Receptor-mediated tobacco toxicity: regulation of gene expression through alpha3beta2 nicotinic receptor in oral epithelial cells A mammalian homolog of Drosophila tumorous imaginal discs, Tid1, mediates agrin signaling at the neuromuscular junction Biological effects of SLURP-1 on human keratinocytes Crystal structure of the MuSK tyrosine kinase: insights into receptor autoregulation Receptor tyrosine kinase specific for the skeletal muscle lineage: expression in embryonic muscle, at the neuromuscular junction, and after injury The receptor tyrosine kinase MuSK is required for neuromuscular junction formation in vivo Failure of postsynaptic specialization to develop at neuromuscular junctions of rapsyn-deficient mice. The ability of agrin to cluster AChRs depends on alternative splicing and on cell surface proteoglycans Postsynaptic requirement for Abl kinases in assembly of the neuromuscular junction Receptor-mediated tobacco toxicity: cooperation of the Ras/Raf-1/MEK1/ERK and JAK-2/STAT-3 pathways downstream of alpha7 nicotinic receptor in oral keratinocytes Protein-protein interactions define specificity in signal transduction What have we learned from the congenital myasthenic syndromes The muscle protein Dok-7 is essential for neuromuscular synaptogenesis Synaptic differentiation is defective in mice lacking acetylcholine receptor beta-subunit tyrosine phosphorylation. Lrp4 is a receptor for Agrin and forms a complex with MuSK LRP4 serves as a coreceptor of agrin Neuromuscular transmission in amyotrophic lateral sclerosis. MuSK controls where motor axons grow and form synapses Impaired synaptic vesicle release and immaturity of neuromuscular junctions in spinal muscular atrophy mice The synaptic muscle-specific kinase (MuSK) complex: new partners, new functions Identification of an agrin mutation that causes congenital myasthenia and affects synapse function. Agrin promotes synaptic differentiation by counteracting an inhibitory effect of neurotransmitter Congenital myasthenic syndromes Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients Dok-7 mutations underlie a neuromuscular junction synaptopathy Pre- and post-synaptic abnormalities associated with impaired neuromuscular transmission in a group of patients with 'limb-girdle myasthenia'. Refinement of the clinical phenotype in musk-related congenital myasthenic syndromes. MUSK, a new target for mutations causing congenital myasthenic syndrome Further observations in congenital myasthenic syndromes Immobilized metal ion affinity chromatography of histidine-tagged fusion proteins Anconeus muscle: a human muscle preparation suitable for in-vitro microelectrode studies Clinical features of the DOK7 neuromuscular junction synaptopathy Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7. Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes. Congenital myasthenic syndromes and the formation of the neuromuscular junction Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering. A mouse model for congenital myasthenic syndrome due to MuSK mutations reveals defects in structure and function of neuromuscular junctions A treatable muscle disease. Variable phenotypes associated with mutations in DOK7.
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