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RAPSN encodes a member of a family of proteins that are receptor associated proteins of the synapse.
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Report attributes the RAPSN mutation c.484G > A, identified in a homozygous state, to causing fetal akinesia deformation sequence.
Mutations in RAPSN and COLQ are the most common causes of congenital myasthenic syndrome in Israel.
Hypomethylation of CpG sites in RPTOR (zeige RPTOR Proteine), MGRN1 (zeige MGRN1 Proteine) and RAPSN in blood is associated with breast cancer.
These findings uncover a new link between rapsyn, lysosome positioning, exocytosis and plasma membrane integrity.
a mutation of the RAPSN gene may have a role in development of congenital myasthenic syndrome after general anaesthesia [case report]
Investigation of mutations in RAPSN determines that patients with congenital myasthenic syndrome can be misdiagnosed with seronegative myasthenia gravis.
An allelic quantification on patient's DNA identified three novel multi-exon deletions of RAPSN.
nAChR (zeige CHRNA4 Proteine) mobility in plasma membranes of myoblast cells during their differentiation to myotubes in the presence and absence of rapsyn
Rapsyn mutations in humans cause endplate acetylcholine-receptor (zeige CHRNA1 Proteine) deficiency and myasthenic syndrome
E-box mutations in the RAPSN promoter region may have a role in congenital myasthenic syndrome
The RING domain of rapsyn contains E3 ligase activity. Mutation of the RING domain that abolishes the enzyme activity inhibits rapsyn- as well as agrin (zeige AGRN Proteine)-induced AChR clustering in heterologous and muscle cells. Further biological and genetic studies support a working model where rapsyn, a classic scaffold protein (zeige HOMER1 Proteine), serves as an E3 ligase to induce AChR clustering and NMJ formation, possibly by regulation of AChR neddylation
Protein kinase CK2 (zeige CSNK2A1 Proteine) interacts at the neuromuscular synapse with Rapsyn, Rac1, 14-3-3gamma (zeige YWHAG Proteine), and Dok-7 (zeige DOK7 Proteine) proteins and phosphorylates the latter two.
Plectin bridges acetylcholine receptors and intermediate filaments via direct interaction with the AChR-scaffolding protein rapsyn in an isoform-specific manner.
Molecular modelling, immunoprecipitation and bimolecular fluorescence complementation approaches identify an alpha-helical stretch of rapsyn to be crucial for binding to the dimerisation and docking domain of PKA type I.
typical anchoring proteins of central excitatory synapses coimmunoprecipitate and colocalize with rapsyn
alpha-Actinin (zeige ACTN1 Proteine), rapsyn, and surface AChR form a ternary complex.
These results provide the first experimental evidence that rapsyn is a direct sequence-specific target of Kaiso (zeige ZBTB33 Proteine) and delta-catenin (zeige CTNND2 Proteine).
Thus, the metabolic half-life of receptors at the synapse may be modulated by local changes in the subsynaptic ratio of rapsyn to AChR.
Remarkable dynamism of rapsyn underlies stability and maintenance of the postsynaptic scaffold and suggests that the insertion of different postsynaptic proteins may be operating independently.
Our findings indicate that the reduced postsynaptic receptor density resulting from defective rapsyn contributes to weakness, but is not solely responsible for use-dependent fatigue
This gene encodes a member of a family of proteins that are receptor associated proteins of the synapse. The encoded protein contains a conserved cAMP-dependent protein kinase phosphorylation site, and plays a critical role in clustering and anchoring nicotinic acetylcholine receptors at synaptic sites by linking the receptors to the underlying postsynaptic cytoskeleton, possibly by direct association with actin or spectrin. Mutations in this gene may play a role in postsynaptic congenital myasthenic syndromes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.
receptor-associated protein of the synapse
, 43 kD receptor-associated protein of the synapse
, 43 kDa receptor-associated protein of the synapse-like
, 43 kDa postsynaptic protein
, 43 kDa receptor-associated protein of the synapse
, acetylcholine receptor-associated 43 kDa protein
, receptor-associated protein of the synapse, 43kD
, 43 kda postsynaptic protein
, RING finger protein 205
, acetylcholine receptor-associated 43 kda protein
, 43kDa acetylcholine receptor-associated protein
, receptor-associated protein of the synapse, 43 kDa
, twitch once