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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
Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence.
Groffen et al., Amsterdam, Netherlands. In Eur J Hum Genet, 30 Sep 2015
FADS can result from mutations in CHRNG, CHRNA1, CHRND, DOK7 and RAPSN; however, these genes only account for a minority of cases.
Protein kinase CK2 interacts at the neuromuscular synapse with Rapsyn, Rac1, 14-3-3γ and Dok-7, and phosphorylates the latter two.
Hashemolhosseini et al., Nürnberg, Germany. In J Biol Chem, 21 Aug 2015
We identified the following proteins to interact with protein kinase CK2, (a) weakly the α and β subunits of the nicotinic acetylcholine receptors (AChR), (b) dishevelled (dsh), and (c) another four proteins with strong interaction: Rapsyn, Rac1, 14-3-3γ and Dok-7.
Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies.
Tang et al., Irvine, United States. In Prenat Diagn, 05 Aug 2015
The provided diagnoses included osteogenesis imperfecta II (COL1A2), glycogen storage disease IV (GBE1), oral-facial-digital syndrome 1 (OFD1), and RAPSN-associated fetal akinesia deformation sequence.
Hippocampal sclerosis in the parkinsonism-dementia complex of Guam: quantitative examination of neurons, neurofibrillary tangles, and TDP-43 immunoreactivity in CA1.
Takahashi et al., Matsumoto, Japan. In Neuropathology, Jun 2015
The cornu ammonis 1 (CA1) area in the hippocampus of the parkinsonism-dementia complex (PDC) of Guam was examined quantitatively with special references to the number of neurons, intraneuronal (i) and extracellular (e) neurofibirillary tangles (NFTs), and TDP-43 (43-kDa trans-activation-responsive region DNA-binding protein)-immunopositive structures, in 24 Chamorro patients with PDC of Guam and seven control Chamorro Guamanians (both groups having no ischemic or anoxic complications).
Dynamic Changes in Equatorial Segment Protein 1 (SPESP1) Glycosylation During Mouse Spermiogenesis.
Herr et al., Charlottesville, United States. In Biol Reprod, May 2015
The 47- and 43-kDa isoforms of SPESP1 from epididymal sperm did not stain with glycoprofile, suggesting an absence of, or few, glycoprofile-sensitive glycoconjugates in epididymal SPESP1.
TDP-43 in amyotrophic lateral sclerosis - is it a prion disease?
Brettschneider et al., Ulm, Germany. In Eur J Neurol, May 2015
The neuropathological hallmark of most amyotrophic lateral sclerosis cases are neuronal and glial aggregates of phosphorylated 43-kDa TAR DNA-binding protein (pTDP-43).
Involvement of the cytochrome P450 system EthBAD in the N-deethoxymethylation of acetochlor by Rhodococcus sp. strain T3-1.
Cui et al., Nanchang, China. In Appl Environ Microbiol, Mar 2015
Based on the results of peptide mass fingerprint analysis, acetochlor N-deethoxymethylase was identified as a cytochrome P450 system, composed of a cytochrome P450 oxygenase (43-kDa component; EthB), a ferredoxin (45 kDa; EthA), and a reductase (11 kDa; EthD), that is involved in the degradation of methyl tert-butyl ether.
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, 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.
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.
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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