peripheral membrane protein 43K

01/01/2019 - "Transplanting the gut microbiota from pathogen-free mice into germ-free mice resulted in an increase in skeletal muscle mass, a reduction in muscle atrophy markers, improved oxidative metabolic capacity of the muscle, and elevated expression of the neuromuscular junction assembly genes Rapsyn and Lrp4 Treating germ-free mice with short-chain fatty acids (microbial metabolites) partly reversed skeletal muscle impairments. "

01/01/2008 - "Functional studies were consistent with the hypothesis that whereas incomplete loss of rapsyn function may cause congenital myasthenia, more severe loss of function can result in a lethal fetal akinesia phenotype."
09/04/2023 - "Therefore, Rapsyn is essential to the NMJ formation and maintenance, and Rapsyn mutant is one of the reasons causing the pathogenies of congenital myasthenic syndrome (CMS). "
09/04/2023 - "The role of Rapsyn in neuromuscular junction and congenital myasthenic syndrome."
01/01/2020 - "Mutations of rapsyn have been associated with NMJ diseases including congenital myasthenia syndromes. "
06/04/2019 - "Congenital myasthenic syndrome due to rapsyn deficiency: A case report with a new mutation and compound heterozygosity."

12/07/2016 - "This study identifies a previously unappreciated enzymatic function of rapsyn and a role of neddylation in synapse formation, and reveals a potential target of therapeutic intervention for relevant neurological disorders."

06/01/2004 - "Rapsyn-LO presented with limb weakness in adolescence or adulthood resembling seronegative myasthenia gravis. "
01/01/2020 - "Myasthenia gravis AChR antibodies inhibit function of rapsyn-clustered AChRs."
10/01/2005 - "These data suggest not only that increasing rapsyn expression could be a potential treatment for selected muscles of myasthenia gravis patients, but also lend support to the hypothesis that individual differences in innate rapsyn expression could be a factor in determining disease severity."
05/13/1998 - "Rapsyn antibodies in myasthenia gravis."
02/01/2007 - "The primary autoantigen in myasthenia gravis, the acetylcholine receptor (AChR), is clustered and anchored in the postsynaptic membrane of the neuromuscular junction by rapsyn. "

10/01/1999 - "Immunological analysis demonstrates the presence of full-length rapsyn in chick muscle extracts but fails to detect either full-length or splice-variant versions of rapsyn at significant levels in ganglion extracts. "
07/01/1997 - "Here, we have detected rapsyn transcripts in the chick nervous system, localized rapsyn mRNA in ciliary ganglion (CG) neurons, which are known to cluster AChRs, and identified three rapsyn cDNAs derived from the ganglion. "