rapsyn

Summary

Gene Symbol: rapsyn
Description: receptor associated protein of the synapse
Alias: CMS11, CMS4C, FADS, RAPSYN, RNF205, 43 kDa receptor-associated protein of the synapse, 43 kda postsynaptic protein, RING finger protein 205, acetylcholine receptor-associated 43 kda protein
Species: human
Products:     rapsyn

Top Publications

  1. Apel E, Glass D, Moscoso L, Yancopoulos G, Sanes J. Rapsyn is required for MuSK signaling and recruits synaptic components to a MuSK-containing scaffold. Neuron. 1997;18:623-35 pubmed
    ..The receptor tyrosine kinase MuSK is a component of the agrin receptor, while the cytoplasmic protein rapsyn is necessary for the clustering of AChRs and all other postsynaptic membrane components studied to date...
  2. Apel E, Roberds S, Campbell K, Merlie J. Rapsyn may function as a link between the acetylcholine receptor and the agrin-binding dystrophin-associated glycoprotein complex. Neuron. 1995;15:115-26 pubmed
    The 43 kDa AChR-associated protein rapsyn is required for the clustering of nicotinic acetylcholine receptors (AChRs) at the developing neuromuscular junction, but the functions of other postsynaptic proteins colocalized with the AChR are ..
  3. Oury J, Liu Y, Topf A, Todorovic S, Hoedt E, Preethish Kumar V, et al. MACF1 links Rapsyn to microtubule- and actin-binding proteins to maintain neuromuscular synapses. J Cell Biol. 2019;: pubmed publisher
    ..b>Rapsyn, an intracellular peripheral membrane protein that binds AChRs, is essential for synaptic differentiation, but how ..
  4. Estephan E, Zambon A, Marchiori P, da Silva A, Caldas V, Moreno C, et al. Clinical variability of early-onset congenital myasthenic syndrome due to biallelic RAPSN mutations in Brazil. Neuromuscul Disord. 2018;28:961-964 pubmed publisher
    ..Moreover, it suggests that RAPSN CMS may be underdiagnosed in non-European countries. ..
  5. Tan Sindhunata M, Mathijssen I, Smit M, Baas F, de Vries J, van der Voorn J, et al. Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence. Eur J Hum Genet. 2015;23:1151-7 pubmed publisher
    Fetal akinesia deformation sequence (FADS) refers to a clinically and genetically heterogeneous group of disorders with congenital malformations related to impaired fetal movement...
  6. Kao J, Milone M, Selcen D, Shen X, Engel A, Liewluck T. Congenital myasthenic syndromes in adult neurology clinic: A long road to diagnosis and therapy. Neurology. 2018;91:e1770-e1777 pubmed publisher
    ..Seronegative myasthenia gravis and muscle diseases were the 2 most common misdiagnoses, which led to treatment delay and unnecessary exposure to immunotherapy, thymectomy, or muscle biopsy. ..
  7. Radke J, Dreesmann M, Radke M, von Moers A, Abicht A, Stenzel W, et al. The Curse of Apneic Spells. Semin Pediatr Neurol. 2018;26:56-58 pubmed publisher
    ..Asn88Lys, from the mother, and one novel mutation, p.Cys366Gly, from the father. Life-saving pyridostigmine treatment suppressed her apneic spells and improved her motor development. ..
  8. Matovinovic E, Kho P, Lea R, Benton M, Eccles D, Haupt L, et al. Genome-wide linkage and association analysis of primary open-angle glaucoma endophenotypes in the Norfolk Island isolate. Mol Vis. 2017;23:660-665 pubmed
    ..These results also highlight the need to target rarer variants via whole genome sequencing in this genetic isolate. ..
  9. Park J, Ikeda H, Ikenaga T, Ono F. Acetylcholine receptors enable the transport of rapsyn from the Golgi complex to the plasma membrane. J Neurosci. 2012;32:7356-63 pubmed publisher
    ..receptors (AChRs) at nerve terminals is critical for signal transmission at the neuromuscular junction, and rapsyn is essential for this process...

More Information

Publications76

  1. Nishimune H, Shigemoto K. Practical Anatomy of the Neuromuscular Junction in Health and Disease. Neurol Clin. 2018;36:231-240 pubmed publisher
    ..Proteins essential for the organization of end plates include agrin secreted from nerve terminals, Lrp4 and MuSK receptors for agrin, and Dok-7 and rapsyn cytosolic proteins in the muscle.
  2. Mihailovska E, Raith M, Valencia R, Fischer I, Al Banchaabouchi M, Herbst R, et al. Neuromuscular synapse integrity requires linkage of acetylcholine receptors to postsynaptic intermediate filament networks via rapsyn-plectin 1f complexes. Mol Biol Cell. 2014;25:4130-49 pubmed publisher
    ..We found plectin isoform 1f (P1f) to bridge AChRs and IFs via direct interaction with the AChR-scaffolding protein rapsyn in an isoform-specific manner; forced expression of P1f in plectin-deficient cells rescued both compromised AChR ..
  3. Shanmukha S, Narayanappa G, Nalini A, Alladi P, Raju T. Sporadic amyotrophic lateral sclerosis (SALS) - skeletal muscle response to cerebrospinal fluid from SALS patients in a rat model. Dis Model Mech. 2018;11: pubmed publisher
    ..Altered expression of key NMJ proteins, rapsyn and calpain, was also observed by immunoblotting...
  4. Oger J, Frykman H. An update on laboratory diagnosis in myasthenia gravis. Clin Chim Acta. 2015;444:126-31 pubmed publisher
    ..They also broach over the striated antibodies, less frequent and clinically less useful such as anti-titin, -ryanodine, -agrin and -rapsyn. This represent a 360° view of the field as presented in Toronto in October 2014.
  5. Das A, Agamanolis D, Cohen B. Use of next-generation sequencing as a diagnostic tool for congenital myasthenic syndrome. Pediatr Neurol. 2014;51:717-20 pubmed publisher
    ..We report a 20-month-old boy with rapsyn deficiency. At birth, he presented with a weak cry, hypotonia, joint contractures, and facial deformity...
  6. Takamori M. Synaptic Homeostasis and Its Immunological Disturbance in Neuromuscular Junction Disorders. Int J Mol Sci. 2017;18: pubmed publisher
    ..Postsynaptically, they are based on rapsyn-anchored nAChR clusters, localized sensitivity to ACh, and synaptic stabilization via linkage to the extracellular ..
  7. Vezina Audette R, Tremblay M, Carbonetto S. Laminin is instructive and calmodulin dependent kinase II is non-permissive for the formation of complex aggregates of acetylcholine receptors on myotubes in culture. Matrix Biol. 2017;57-58:106-123 pubmed publisher
    ..The permissive period requires ongoing protein synthesis. The latter may reflect a requirement for rapsyn, which turns over rapidly, and is necessary for aggregation...
  8. Aare S, Spendiff S, Vuda M, Elkrief D, Pérez A, Wu Q, et al. Failed reinnervation in aging skeletal muscle. Skelet Muscle. 2016;6:29 pubmed publisher
    ..marked fiber-type grouping, consistent with repeating cycles of denervation and reinnervation, yet in VO muscle, rapsyn at the endplate increased and was associated with only a 10 % decline in acetylcholine receptor (AChR) ..
  9. Herrmann D, Straubinger M, Hashemolhosseini S. Protein kinase CK2 interacts at the neuromuscular synapse with Rapsyn, Rac1, 14-3-3γ, and Dok-7 proteins and phosphorylates the latter two. J Biol Chem. 2015;290:22370-84 pubmed publisher
    ..the nicotinic acetylcholine receptors with weak interaction, (b) dishevelled (Dsh), and (c) another four proteins, Rapsyn, Rac1, 14-3-3γ, and Dok-7, with strong interaction...
  10. Chen P, Martinez Pena y Valenzuela I, Aittaleb M, Akaaboune M. AChRs Are Essential for the Targeting of Rapsyn to the Postsynaptic Membrane of NMJs in Living Mice. J Neurosci. 2016;36:5680-5 pubmed publisher
    b>Rapsyn, a 43 kDa scaffold protein, is required for the clustering of acetylcholine receptors (AChRs) at synaptic sites between mammalian motor neurons and muscle cells...
  11. Oger J, Frykman H. An update on laboratory diagnosis in myasthenia gravis. Clin Chim Acta. 2015;449:43-8 pubmed publisher
    ..They also broach over the striated antibodies, less frequent and clinically less useful such as anti-titin, -ryanodine, -agrin and -rapsyn. This represent a 360° view of the field as presented in Toronto in October 2014.
  12. Imperatore V, Mencarelli M, Fallerini C, Bianciardi L, Ariani F, Furini S, et al. Potentially Treatable Disorder Diagnosed Post Mortem by Exome Analysis in a Boy with Respiratory Distress. Int J Mol Sci. 2016;17:306 pubmed publisher
    ..Our study supports the key role of exome sequencing in achieving a definite diagnosis in severe perinatal diseases, an essential step especially when a specific therapy is available. ..
  13. McMacken G, Whittaker R, Evangelista T, Abicht A, Dusl M, Lochmuller H. Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients. J Neurol. 2018;265:194-203 pubmed publisher
    ..In light of the potential for recurrent life-threatening apnoeas in early life and the positive response to therapy, early diagnostic consideration of CMS-EA is critical, but without specific neurophysiology tests, it may go overlooked. ..
  14. Yagi H, Ohkawara B, Nakashima H, Ito K, Tsushima M, Ishii H, et al. Zonisamide Enhances Neurite Elongation of Primary Motor Neurons and Facilitates Peripheral Nerve Regeneration In Vitro and in a Mouse Model. PLoS ONE. 2015;10:e0142786 pubmed publisher
    ..We propose that zonisamide is a potential therapeutic agent for peripheral nerve injuries as well as for neuropathies due to other etiologies. ..
  15. Clark J, Southam K, Blizzard C, King A, Dickson T. Axonal degeneration, distal collateral branching and neuromuscular junction architecture alterations occur prior to symptom onset in the SOD1(G93A) mouse model of amyotrophic lateral sclerosis. J Chem Neuroanat. 2016;76:35-47 pubmed publisher
    ..analysis demonstrated that the colocalisation of the scaffolding proteins nestin, LRP-4, dystrophin and rapsyn were diminished before post-synaptic receptors in the gastrocnemius, and the degree of loss differed between ..
  16. Ghazanfari N, Linsao E, Trajanovska S, Morsch M, Gregorevic P, Liang S, et al. Forced expression of muscle specific kinase slows postsynaptic acetylcholine receptor loss in a mouse model of MuSK myasthenia gravis. Physiol Rep. 2015;3: pubmed publisher
    ..In contrast to the effects of MuSK-EGFP, forced expression of rapsyn-EGFP provided no such protection to endplate AChR when mice were subsequently challenged with MuSK MG IgG...
  17. Aittaleb M, Martinez Pena y Valenzuela I, Akaaboune M. Spatial distribution and molecular dynamics of dystrophin glycoprotein components at the neuromuscular junction in vivo. J Cell Sci. 2017;130:1752-1759 pubmed publisher
    ..We show that rapsyn forms complex with both ?-dystrobrevin and ?-syntrophin at the crests of junctional folds...
  18. Garg N, Yiannikas C, Hardy T, Belaya K, Cheung J, Beeson D, et al. Late presentations of congenital myasthenic syndromes: How many do we miss?. Muscle Nerve. 2016;54:721-7 pubmed publisher
    ..CMS is probably underdiagnosed in seronegative myasthenic disorders and should be considered in the differential diagnosis. Muscle Nerve 54: 721-727, 2016. ..
  19. Vilmont V, Cadot B, Vezin E, Le Grand F, Gomes E. Dynein disruption perturbs post-synaptic components and contributes to impaired MuSK clustering at the NMJ: implication in ALS. Sci Rep. 2016;6:27804 pubmed publisher
    ..the expression and the clustering of acetylcholine receptors (AChRs), muscle specific tyrosine kinase (MuSK) and Rapsyn. We also show that myofibers with dynein impairment or from an amyotrophic lateral sclerosis (ALS) model (SOD1(..
  20. Natera de Benito D, Bestué M, Vilchez J, Evangelista T, Töpf A, García Ribes A, et al. Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations. Neuromuscul Disord. 2016;26:153-9 pubmed publisher
    b>Rapsyn (RAPSN) mutations are a common cause of postsynaptic congenital myasthenic syndromes...
  21. Shibata A, Okuno T, Rahman M, Azuma Y, Takeda J, Masuda A, et al. IntSplice: prediction of the splicing consequences of intronic single-nucleotide variations in the human genome. J Hum Genet. 2016;61:633-40 pubmed publisher
    ..We created a web service program, IntSplice (http://www.med.nagoya-u.ac.jp/neurogenetics/IntSplice) to predict splicing-affecting SNVs at intronic positions from -50 to -3. ..
  22. Ishigaki K, Murakami T, Ito Y, Yanagisawa A, Kodaira K, Shishikura K, et al. [Treatment approach to congenital myasthenic syndrome in a patient with acetylcholine receptor deficiency]. No To Hattatsu. 2009;41:37-42 pubmed
    ..Genetic analyses for AchR, Rapsyn, Musk and AChE were negative...
  23. Wen H, Hubbard J, Wang W, Brehm P. Fatigue in Rapsyn-Deficient Zebrafish Reflects Defective Transmitter Release. J Neurosci. 2016;36:10870-10882 pubmed
    b>Rapsyn-deficient myasthenic syndrome is characterized by a weakness in voluntary muscle contraction, a direct consequence of greatly reduced synaptic responses that result from poorly clustered acetylcholine receptors...
  24. Engel A. Genetic basis and phenotypic features of congenital myasthenic syndromes. Handb Clin Neurol. 2018;148:565-589 pubmed publisher
    ..Identification of the genetic basis of each CMS is important not only for genetic counseling and disease prevention but also for therapy, because therapeutic agents that benefit one type of CMS can be harmful in another. ..
  25. Aharoni S, Sadeh M, Shapira Y, Edvardson S, Daana M, Dor Wollman T, et al. Congenital myasthenic syndrome in Israel: Genetic and clinical characterization. Neuromuscul Disord. 2017;27:136-140 pubmed publisher
    ..Specific mutations in COLQ, RAPSN, and CHRNE occur in specific ethnic populations and should be taken into account when the diagnosis of a CMS is suspected. ..
  26. Dunne V, Maselli R. Common founder effect of rapsyn N88K studied using intragenic markers. J Hum Genet. 2004;49:366-9 pubmed
    Mutations in the human gene encoding rapsyn have been linked to a recessive form of postsynaptic congenital myasthenic syndrome due to deficient clustering of acetylcholine receptors at the endplate...
  27. Winters L, Van Hoof E, De Catte L, Van Den Bogaert K, de Ravel T, de Waele L, et al. Massive parallel sequencing identifies RAPSN and PDHA1 mutations causing fetal akinesia deformation sequence. Eur J Paediatr Neurol. 2017;21:745-753 pubmed publisher
    Fetal akinesia deformation sequence (FADS) or arthrogryposis multiplex congenita (AMC) is characterized by clinical ambiguity and genetic heterogeneity, hampering genetic diagnosis via traditional sequencing methods...
  28. Maselli R, Dunne V, Pascual Pascual S, Bowe C, Agius M, Frank R, et al. Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering. Muscle Nerve. 2003;28:293-301 pubmed
    b>Rapsyn, a 43-kDa postsynaptic protein, is essential for anchoring and clustering acetylcholine receptors (AChRs) at the endplate (EP)...
  29. Marchand S, Devillers Thiery A, Pons S, Changeux J, Cartaud J. Rapsyn escorts the nicotinic acetylcholine receptor along the exocytic pathway via association with lipid rafts. J Neurosci. 2002;22:8891-901 pubmed
    The 43 kDa receptor-associated protein rapsyn is a myristoylated peripheral protein that plays a central role in nicotinic acetylcholine receptor (AChR) clustering at the neuromuscular junction...
  30. Bartoli M, Ramarao M, Cohen J. Interactions of the rapsyn RING-H2 domain with dystroglycan. J Biol Chem. 2001;276:24911-7 pubmed
    b>Rapsyn, a peripheral membrane protein of skeletal muscle, is necessary for the formation of the highly organized structure of the vertebrate neuromuscular junction...
  31. Lam C, Wong K, Leung H, Law C. Limb girdle myasthenia with digenic RAPSN and a novel disease gene AK9 mutations. Eur J Hum Genet. 2017;25:192-199 pubmed publisher
    ..Importantly, the AK9-associated nucleotide deficiency may replete by dietary supplements. Since AK9 is a disease modifier, enhancing N-glycosylation by increasing dietary nucleotides may be a new therapeutic option for CMS patients. ..
  32. Banwell B, Ohno K, Sieb J, Engel A. Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine. Neuromuscul Disord. 2004;14:202-7 pubmed
    b>Rapsyn is essential for clustering the acetylcholine receptor at the postsynaptic membrane of the neuromuscular junction...
  33. Muller J, Abicht A, Christen H, Stucka R, Schara U, Mortier W, et al. A newly identified chromosomal microdeletion of the rapsyn gene causes a congenital myasthenic syndrome. Neuromuscul Disord. 2004;14:744-9 pubmed
    ..Interestingly, an Alu-mediated unequal homologous recombination may have caused the deletion. We hypothesize that numerous interspersed Alu elements may predispose the RAPSN locus for genetic rearrangements...
  34. Nam S, Min K, Hwang H, Lee H, Lee J, Yoon J, et al. Control of rapsyn stability by the CUL-3-containing E3 ligase complex. J Biol Chem. 2009;284:8195-206 pubmed publisher
    b>Rapsyn is a postsynaptic protein required for clustering of nicotinic acetylcholine receptors (nAChRs) at the neuromuscular junction. Here we report the mechanism for posttranslational control of rapsyn protein stability...
  35. Piguet J, Schreiter C, Segura J, Vogel H, Hovius R. Acetylcholine receptor organization in membrane domains in muscle cells: evidence for rapsyn-independent and rapsyn-dependent mechanisms. J Biol Chem. 2011;286:363-9 pubmed publisher
    ..b>Rapsyn plays a central role in directing and clustering nAChR during cellular differentiation and neuromuscular junction ..
  36. Qian X, Riccio A, Zhang Y, Ginty D. Identification and characterization of novel substrates of Trk receptors in developing neurons. Neuron. 1998;21:1017-29 pubmed
    ..Together, these observations indicate that rAPS and SH2-B mediate Trk signaling in developing neurons. ..
  37. Leshinsky Silver E, Shapira D, Yosovitz K, Ginsberg M, Lerman Sagie T, Lev D. A novel mutation in the TPR6 domain of the RAPSN gene associated with congenital myasthenic syndrome. J Neurol Sci. 2012;316:112-5 pubmed publisher
    ..They are caused by mutations in synaptic, presynaptic and post synaptic proteins. Rapsyn is a postsynaptic peripheral membrane protein that anchors the nicotinic acetylcholine receptor to the motor ..
  38. Ohno K, Sadeh M, Blatt I, Brengman J, Engel A. E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndrome. Hum Mol Genet. 2003;12:739-48 pubmed
    ..No E-box mutation has been reported to date. RAPSN encodes rapsyn, a 43 kDa postsynaptic peripheral membrane protein that clusters the nicotinic acetylcholine receptor at the motor ..
  39. Natera de Benito D, Topf A, Vilchez J, Gonzalez Quereda L, Domínguez Carral J, Diaz Manera J, et al. Molecular characterization of congenital myasthenic syndromes in Spain. Neuromuscul Disord. 2017;27:1087-1098 pubmed publisher
    ..1289A?>?C (p.Tyr430Ser). Furthermore, we describe phenotypes and distinguishing clinical signs associated with the various CMS genes which might help to identify specific CMS subtypes to guide diagnosis and management. ..
  40. Fung E, Lanahan A, Worley P, Huganir R. Identification of a Torpedo homolog of Sam68 that interacts with the synapse organizing protein rapsyn. FEBS Lett. 1998;437:29-33 pubmed
    ..The synaptic peripheral membrane protein rapsyn has been shown to mediate clustering of nAChRs in several systems...
  41. Milone M, Shen X, Selcen D, Ohno K, Brengman J, Iannaccone S, et al. Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients. Neurology. 2009;73:228-35 pubmed publisher
    Pathogenic mutations in rapsyn result in endplate acetylcholine receptor (AChR) deficiency and are a common cause of postsynaptic congenital myasthenic syndromes...
  42. Osman A, Schrader A, Hawkes A, Akil O, Bergeron A, Lustig L, et al. Muscle-like nicotinic receptor accessory molecules in sensory hair cells of the inner ear. Mol Cell Neurosci. 2008;38:153-69 pubmed publisher
    ..MuSK, rapsyn and RIC-3 are accessory molecules associated with muscle and brain nAChR function...
  43. Lin W, Burgess R, Dominguez B, Pfaff S, Sanes J, Lee K. Distinct roles of nerve and muscle in postsynaptic differentiation of the neuromuscular synapse. Nature. 2001;410:1057-64 pubmed
    ..agrin activates muscle-specific kinase (MuSK) to cluster AChRs through the synapse-specific cytoplasmic protein rapsyn. But how postsynaptic differentiation is initiated, or why most synapses are restricted to an 'end-plate band' in ..
  44. Dunne V, Maselli R. Identification of pathogenic mutations in the human rapsyn gene. J Hum Genet. 2003;48:204-7 pubmed
    b>Rapsyn, a complex postsynaptic protein of the striated muscle, assembles acetylcholine receptors (AChR) at high density at the motor endplate (EP)...
  45. Aittaleb M, Chen P, Akaaboune M. Failure of lysosome clustering and positioning in the juxtanuclear region in cells deficient in rapsyn. J Cell Sci. 2015;128:3744-56 pubmed publisher
    b>Rapsyn, a scaffold protein, is required for the clustering of acetylcholine receptors (AChRs) at contacts between motor neurons and differentiating muscle cells. Rapsyn is also expressed in cells that do not express AChRs...
  46. Zhou H, Glass D, Yancopoulos G, Sanes J. Distinct domains of MuSK mediate its abilities to induce and to associate with postsynaptic specializations. J Cell Biol. 1999;146:1133-46 pubmed
    ..acetylcholine receptors (AChRs) in the postsynaptic membrane, a process that requires the AChR-associated protein, rapsyn. Here, we mapped domains on MuSK necessary for its interactions with agrin and rapsyn...
  47. Han H, Noakes P, Phillips W. Overexpression of rapsyn inhibits agrin-induced acetylcholine receptor clustering in muscle cells. J Neurocytol. 1999;28:763-75 pubmed
    b>Rapsyn is a protein on the cytoplasmic face of the postsynaptic membrane of skeletal muscle that is essential for clustering acetylcholine receptors (AChR)...
  48. Caggiano S, Khirani S, Verrillo E, Barnerias C, Amaddeo A, Gitiaux C, et al. Sleep in infants with congenital myasthenic syndromes. Eur J Paediatr Neurol. 2017;21:842-851 pubmed publisher
    ..Three infants required ventilatory support after the polygraphy, underlining its clinical usefulness. No significant abnormalities of HR were observed during the sleep studies. ..
  49. Müller J, Baumeister S, Rasic V, Krause S, Todorovic S, Kugler K, et al. Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations. Neurology. 2006;67:1159-64 pubmed
    ..with RAPSN-constructs carrying R164C and L283P indicate that both mutations diminish coclustering of AChR with rapsyn. Screening for the common mutation RAPSN N88K facilitates targeted genetic analysis in congenital myasthenic ..
  50. Burke G, Cossins J, Maxwell S, Owens G, Vincent A, Robb S, et al. Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes. Neurology. 2003;61:826-8 pubmed
    b>Rapsyn mutations in 16 unrelated patients with a congenital/hereditary myasthenic syndrome were identified, and a mutation (N88K) common to each of them was found. Two distinct phenotypes were noted: early and late onset...
  51. Müller J, Mildner G, Müller Felber W, Schara U, Krampfl K, Petersen B, et al. Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients. Neurology. 2003;60:1805-10 pubmed
    ..Recently, three different mutations in the RAPSN gene have been identified in four CMS patients with AChR deficiency...
  52. Tang Q, Holland Letz T, Slynko A, Cuk K, Marme F, Schott S, et al. DNA methylation array analysis identifies breast cancer associated RPTOR, MGRN1 and RAPSN hypomethylation in peripheral blood DNA. Oncotarget. 2016;7:64191-64202 pubmed publisher
    ..Our study suggests that hypomethylation of CpG sites in RPTOR, MGRN1 and RAPSN in blood is associated with BC and might serve as blood-based marker supplements for BC if these could be verified in prospective studies. ..
  53. Rodova M, Kelly K, VanSaun M, Daniel J, Werle M. Regulation of the rapsyn promoter by kaiso and delta-catenin. Mol Cell Biol. 2004;24:7188-96 pubmed
    b>Rapsyn is a synapse-specific protein that is required for clustering acetylcholine receptors at the neuromuscular junction...
  54. Ioos C, Barois A, Richard P, Eymard B, Hantai D, Estournet Mathiaud B. Congenital myasthenic syndrome due to rapsyn deficiency: three cases with arthrogryposis and bulbar symptoms. Neuropediatrics. 2004;35:246-9 pubmed
    ..cases of 3 children with postsynaptic congenital myasthenic syndrome with acetylcholine receptor deficiency due to rapsyn deficiency...
  55. Sadasivam G, Willmann R, Lin S, Erb Vögtli S, Kong X, Ruegg M, et al. Src-family kinases stabilize the neuromuscular synapse in vivo via protein interactions, phosphorylation, and cytoskeletal linkage of acetylcholine receptors. J Neurosci. 2005;25:10479-93 pubmed
    ..b>Rapsyn and the utrophin-glycoprotein complex were recruited normally into AChR-containing clusters by agrin in src(-/-);..
  56. Li L, Cao Y, Wu H, Ye X, Zhu Z, Xing G, et al. Enzymatic Activity of the Scaffold Protein Rapsyn for Synapse Formation. Neuron. 2016;92:1007-1019 pubmed publisher
    ..This is mediated by scaffold proteins that bridge the receptors with cytoskeleton. One such protein is rapsyn (receptor-associated protein at synapse), which is essential for acetylcholine receptor (AChR) clustering and NMJ (..
  57. Ramarao M, Cohen J. Mechanism of nicotinic acetylcholine receptor cluster formation by rapsyn. Proc Natl Acad Sci U S A. 1998;95:4007-12 pubmed
    b>Rapsyn, a peripheral membrane protein of skeletal muscle, clusters nicotinic acetylcholine receptors (nAChRs) at high density in the postsynaptic membrane...
  58. Alseth E, Maniaol A, Elsais A, Nakkestad H, Tallaksen C, Gilhus N, et al. Investigation for RAPSN and DOK-7 mutations in a cohort of seronegative myasthenia gravis patients. Muscle Nerve. 2011;43:574-7 pubmed publisher
    ..SNMG patients with an atypical clinical presentation and pediatric cases should be tested for the N88K mutation before initiation of immunosuppressive drug treatment or thymectomy. ..
  59. Buckel A, Beeson D, James M, Vincent A. Cloning of cDNA encoding human rapsyn and mapping of the RAPSN gene locus to chromosome 11p11.2-p11.1. Genomics. 1996;35:613-6 pubmed
    We have isolated and sequenced cDNA clones for the human 43-kDa acetylcholine receptor-associated protein rapsyn. The cDNA encodes a 412-amino-acid protein that has a predicted molecular mass of 46,330 Da and shows 96% sequence identity ..
  60. Murata Shinozaki Y, Takahashi T, Matsubara T, Maruyama H, Izumi Y, Matsumoto M. The origins of rimmed vacuoles and granulovacuolar degeneration bodies are associated with the Wnt signaling pathway. Neurosci Lett. 2017;638:55-59 pubmed publisher
    ..low density lipoprotein-related protein 4 [Lrp4], heat shock protein 70 [Hsp70], ?-catenin, phospho-?-catenin, rapsyn, P21-activated kinase 1 [PAK1], adenomatous polyposis coli [APC] and ADP-ribosylation factor 6 [Arf6]), (3) a ..
  61. Hysi P, Cheng C, Springelkamp H, Macgregor S, Bailey J, Wojciechowski R, et al. Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma. Nat Genet. 2014;46:1126-1130 pubmed publisher
    ..2 (best P = 1.04 × 10(-11) for rs747782). Separate meta-analyses of 4 independent POAG cohorts, totaling 4,284 cases and 95,560 controls, showed that 3 of these loci for IOP were also associated with POAG. ..
  62. Gaudon K, Penisson Besnier I, Chabrol B, Bouhour F, Demay L, Ben Ammar A, et al. Multiexon deletions account for 15% of congenital myasthenic syndromes with RAPSN mutations after negative DNA sequencing. J Med Genet. 2010;47:795-6 pubmed publisher
    ..here three patients with a characteristic phenotype of recessive CMS and presenting mutation in the gene encoding rapsyn (RAPSN). Familial analysis showed that one allelic mutation failed to be detected by direct sequencing...
  63. Vogt J, Harrison B, Spearman H, Cossins J, Vermeer S, ten Cate L, et al. Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients. Am J Hum Genet. 2008;82:222-7 pubmed publisher
    ..15 cases of lethal MPS/fetal akinesia without CHRNG mutations for mutations in the CHRNA1, CHRNB1, CHRND, and rapsyn (RAPSN) genes. No CHRNA1, CHRNB1, or CHRND mutations were detected, but a homozygous RAPSN frameshift mutation, c...
  64. Richard P, Gaudon K, Andreux F, Yasaki E, Prioleau C, Bauche S, et al. Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes. J Med Genet. 2003;40:e81 pubmed
  65. Ohno K, Engel A, Shen X, Selcen D, Brengman J, Harper C, et al. Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome. Am J Hum Genet. 2002;70:875-85 pubmed
    ..However, in a subset of patients with EP AChR deficiency, the genetic defect has remained elusive. Rapsyn, a 43-kDa postsynaptic protein, plays an essential role in the clustering of AChR at the EP...
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