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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 01 Mar 2015.

Receptor-associated protein of the synapse

43-kDa, Rapsyn, RAPSN
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. [provided by RefSeq, Apr 2011] (from NCBI)
Top mentioned proteins: ACID, HAD, CAN, fibrillin-1, CD45
Papers on 43-kDa
Opposing roles of p38 and JNK in a Drosophila model of TDP-43 proteinopathy reveal oxidative stress and innate immunity as pathogenic components of neurodegeneration.
Tibbetts et al., Madison, United States. In Hum Mol Genet, 01 Mar 2015
Pathological aggregation and mutation of the 43-kDa TAR DNA-binding protein (TDP-43) are strongly implicated in the pathogenesis amyotrophic lateral sclerosis and frontotemporal lobar degeneration.
Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence.
Groffen et al., Amsterdam, Netherlands. In Eur J Hum Genet, Jan 2015
FADS can result from mutations in CHRNG, CHRNA1, CHRND, DOK7 and RAPSN; however, these genes only account for a minority of cases.
Pannexin 1 and pannexin 3 channels regulate skeletal muscle myoblast proliferation and differentiation.
Cowan et al., Ottawa, Canada. In J Biol Chem, Dec 2014
Its overexpression (∼43-kDa species) induced HSMM differentiation and also inhibited their proliferation.
Selective inhibition of rDNA transcription by a small-molecule peptide that targets the interface between RNA polymerase I and Rrn3.
Rothblum et al., Oklahoma City, United States. In Mol Cancer Res, Nov 2014
UNLABELLED: The interface between the polymerase I-associated factor Rrn3 and the 43-kDa subunit of RNA polymerase I is essential to the recruitment of Pol I to the preinitiation complex on the rDNA promoter.
Use of next-generation sequencing as a diagnostic tool for congenital myasthenic syndrome.
Cohen et al., Akron, United States. In Pediatr Neurol, Nov 2014
PATIENT DESCRIPTION: We report a 20-month-old boy with rapsyn deficiency.
Perforant path synaptic loss correlates with cognitive impairment and Alzheimer's disease in the oldest-old.
Trojanowski et al., Philadelphia, United States. In Brain, Sep 2014
Thal phase, Braak stage, cerebrovascular disease, hippocampal sclerosis and Pathological 43-kDa transactive response sequence DNA-binding protein (TDP-43) were also analysed.
Cadmium inhibits neurite outgrowth in differentiating human SH-SY5Y neuroblastoma cells.
Yoo et al., Suwŏn, South Korea. In Int J Toxicol, Sep 2014
Treatment of RA-stimulated differentiating SH-SY5Y cells with 1 to 3 μmol/L cadmium resulted in decreased level of cross-reactivities with 43-kDa growth-associated protein (GAP-43) in a dose-dependent manner.
Focus on lipids: high-density lipoprotein cholesterol and its associated lipoproteins in cardiac and renal disease.
McCullough et al., Dallas, United States. In Nephron Clin Pract, 2013
Circulating APOL1 is a 43-kDa protein mainly found in the HDL3 subfraction.
Structure of the N-terminal Gyrase B fragment in complex with ADP⋅Pi reveals rigid-body motion induced by ATP hydrolysis.
Schirmer et al., Basel, Switzerland. In Plos One, 2013
The N-terminal 43-kDa fragment of GyrB (GyrB43) from E. coli comprising the ATPase and the transducer domains has been studied extensively.
Biomarkers of inclusion body myositis.
Greenberg, Boston, United States. In Curr Opin Rheumatol, 2013
A blood biomarker, autoantibodies against a 43-kDa muscle protein reported in 2011, has now been identified as targeting cytoplasmic 5' nucleotidase (cN1A; NT5C1A), a protein involved in nucleic acid metabolism.
[Myositis-specific autoantibodies].
Fujimoto, Kanazawa, Japan. In Brain Nerve, 2013
Moreover, a recent study suggested the presence of autoantibodies to a 43-kDa muscle protein in patients with inclusion body myositis.
[Congenital myasthenic syndromes: difficulties in the diagnosis, course and prognosis, and therapy--The French National Congenital Myasthenic Syndrome Network experience].
Membres du réseau national Syndromes Myasthéniques Congénitaux et al., Paris, France. In Rev Neurol (paris), 2013
The long-term prognosis of CMS was studied in a series of 79 patients recruited with the following gene mutations: CHRNA; CHRNE; DOK7; COLQ; RAPSN; AGRN; and MUSK.
Poxvirus cell entry: how many proteins does it take?
Moss, Bethesda, United States. In Viruses, 2012
Regardless of the pathway or whether the MV or EV mediates infection, fusion is dependent on 11 to 12 non-glycosylated, transmembrane proteins ranging in size from 4- to 43-kDa that are associated in a complex.
Prenatal diagnosis and genetic analysis of fetal akinesia deformation sequence and multiple pterygium syndrome associated with neuromuscular junction disorders: a review.
Chen, Taipei, Taiwan. In Taiwan J Obstet Gynecol, 2012
Genetic analysis of mutations in the neuromuscular junction genes such as CHRNA1, CHRND, CHRNG, CNTN1, DOK7, RAPSN, and SYNE1 may unveil the pathogenetic cause of fetal akinesia deformation sequence and multiple pterygium syndrome, and the information acquired is helpful for genetic counseling and clinical management.
Rapsyn mediates subsynaptic anchoring of PKA type I and stabilisation of acetylcholine receptor in vivo.
Rudolf et al., Eggenstein-Leopoldshafen, Germany. In J Cell Sci, 2012
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.
Glutamatergic neurons induce expression of functional glutamatergic synapses in primary myotubes.
Buffelli et al., Verona, Italy. In Plos One, 2011
typical anchoring proteins of central excitatory synapses coimmunoprecipitate and colocalize with rapsyn
Diagnosis of congenital myasthenic syndrome with mutation of the RAPSN gene after general anaesthesia.
Baroncini et al., Bologna, Italy. In Eur J Anaesthesiol, 2011
a mutation of the RAPSN gene may have a role in development of congenital myasthenic syndrome after general anaesthesia [case report]
Investigation for RAPSN and DOK-7 mutations in a cohort of seronegative myasthenia gravis patients.
Skeie et al., Bergen, Norway. In Muscle Nerve, 2011
Investigation of mutations in RAPSN determines that patients with congenital myasthenic syndrome can be misdiagnosed with seronegative myasthenia gravis.
Acetylcholine receptor organization in membrane domains in muscle cells: evidence for rapsyn-independent and rapsyn-dependent mechanisms.
Hovius et al., Lausanne, Switzerland. In J Biol Chem, 2011
nAChR mobility in plasma membranes of myoblast cells during their differentiation to myotubes in the presence and absence of rapsyn
A novel protein that participates in nonself discrimination of malignant cells by homologous complement.
Seya et al., Ōsaka, Japan. In Nat Med, 1997
Only malignant cells and cell lines exposed to Fas or X-irradiation stimuli produced this protein, designated M161Ag, which was an unglycosylated 43-kDa protein.
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