Receptor-Associated Protein of The Synapse Proteine (RAPSN)

Human Receptor-Associated Protein of The Synapse (RAPSN) Interaktionspartner

1. Report attributes the RAPSN mutation c.484G > A, identified in a homozygous state, to causing fetal akinesia deformation sequence.

2. Mutations in RAPSN and COLQ are the most common causes of congenital myasthenic syndrome in Israel.

3. Hypomethylation of CpG sites in RPTOR (zeige RPTOR Proteine), MGRN1 (zeige MGRN1 Proteine) and RAPSN in blood is associated with breast cancer.

4. These findings uncover a new link between rapsyn, lysosome positioning, exocytosis and plasma membrane integrity.

5. a mutation of the RAPSN gene may have a role in development of congenital myasthenic syndrome after general anaesthesia [case report]

6. Investigation of mutations in RAPSN determines that patients with congenital myasthenic syndrome can be misdiagnosed with seronegative myasthenia gravis.

7. An allelic quantification on patient's DNA identified three novel multi-exon deletions of RAPSN.

8. nAChR (zeige CHRNA4 Proteine) mobility in plasma membranes of myoblast cells during their differentiation to myotubes in the presence and absence of rapsyn

9. Rapsyn mutations in humans cause endplate acetylcholine-receptor (zeige CHRNA1 Proteine) deficiency and myasthenic syndrome

10. E-box mutations in the RAPSN promoter region may have a role in congenital myasthenic syndrome

Mouse (Murine) Receptor-Associated Protein of The Synapse (RAPSN) Interaktionspartner

1. 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

2. 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.

3. Plectin bridges acetylcholine receptors and intermediate filaments via direct interaction with the AChR-scaffolding protein rapsyn in an isoform-specific manner.

4. 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.

5. typical anchoring proteins of central excitatory synapses coimmunoprecipitate and colocalize with rapsyn

6. alpha-Actinin (zeige ACTN1 Proteine), rapsyn, and surface AChR form a ternary complex.

7. nAChR (zeige CHRNA4 Proteine) mobility in plasma membranes of myoblast cells during their differentiation to myotubes in the presence and absence of rapsyn

8. 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).

9. Thus, the metabolic half-life of receptors at the synapse may be modulated by local changes in the subsynaptic ratio of rapsyn to AChR.

10. 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.

Zebrafish Receptor-Associated Protein of The Synapse (RAPSN) Interaktionspartner

1. 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