GoPubMed Proteins lists recent and important papers and reviews for
proteins. Page last changed on 14 Mar 2013.
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)
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Papers on
43-kDa
Identification and characterization of a novel splice variant of rhesus macaque MHC IA.
New
Kunming, China. In Mol Immunol, 31 Mar 2013
Despite lacking the α2 and α3 domains, MHC IA-sv2 is targeted to the cell surface, as a 23-kDa glycoprotein that is totally susceptible to endoglycosidase-H digestion and is reduced to 18kDa after deglycosylation with PNGase F. In contrast, the full-length MHC IA reaches the cell surface as a 43-kDa protein of form with complex-type N-glycosylation (endoglycosidase-H resistant).
Identification of a 43-kDa outer membrane protein of Fusobacterium necrophorum that exhibits similarity with pore-forming proteins of other Fusobacterium species.
New
Daqing, China. In Res Vet Sci, 20 Mar 2013
We identified a predicated 43kDa outer membrane protein (43K OMP) in F. necrophorum, which showed the same properties as other pore-forming proteins of Gram-negative anaerobic bacteria according to analysis of signal peptide, AT-rich, membrane-spanning region and conserved motifs.
GH-IGF system regulation of attenuated muscle growth and lipolysis in Atlantic salmon reared at elevated sea temperatures.
New
Bergen, Norway. In J Comp Physiol B, 28 Feb 2013
Although plasma IGF-1 concentrations did not change, 32-Da and 43-kDa IGFBP increased in fish reared at ≤17 °C, and dropped in fish reared at 19 °C.
Evaluation of Diffusion and Dilution Methods to Determine the Antimicrobial Activity of Water-Soluble Chitosan Derivatives.
New
Baton Rouge, United States. In J Appl Microbiol, Jan 2013
When tested at 1.6% for the 43-kDa and 3.2% for the 67-kDa chitosans, by disk diffusion, approximately 10- to 11-mm-diameter inhibition zones were observed for all of the bacterial groups, except for Salmonella tested for the 67-kDa chitosan where no inhibition zone was observed.
Congenital familial myasthenic syndromes: disease and course in an affected dizygotic twin pair.
New
Catania, Italy. In Bmj Case Rep, Dec 2012
Molecular analysis, performed for both twins, revealed the presence of three polymorphisms in the heterozygous form in RAPSN gene.
Western blotting is an efficient tool for differential diagnosis of paracoccidioidomycosis and pulmonary tuberculosis.
New
Maringá, Brazil. In Clin Vaccine Immunol, Nov 2012
All patients with PCM presented anti-43-kDa-component antibodies in Western blotting (WB) assays, while in the TB-positive patients these antibodies did not appear.
Clostridium perfringens alpha-toxin recognizes the GM1a-TrkA complex.
New
Tokushima, Japan. In J Biol Chem, Oct 2012
Alpha-toxin is a 43-kDa protein with two structural domains; the N-domain contains the catalytic site and coordinates the divalent metal ions, and the C-domain is a membrane-binding site.
The contractile system as a negative regulator of the connexin 43 hemichannel.
New
Leuven, Belgium. In Biol Cell, Jul 2012
The molecular mechanisms underlying the regulation of gap junction (GJ) channels based on the 43-kDa connexin isoform (Cx43) have been studied extensively.
Poxvirus cell entry: how many proteins does it take?
Review
New
Bethesda, United States. In Viruses, May 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.
Review
New
Taipei, Taiwan. In Taiwan J Obstet Gynecol, Mar 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.
Congenital myasthenic syndrome: a brief review.
Review
New
Curitiba, Brazil. In Pediatr Neurol, Mar 2012
Therefore, genetic testing may be necessary to identify specific mutations in CHAT, COLQ, LAMB2, CHRNA, CHRNB, CHRND, CHRNE, CHRNG, RAPSN, DOK7, MUSK, AGRN, SCN4A, GFPT1, or PLEC1 genes.
On the development of markers for pathological TDP-43 in amyotrophic lateral sclerosis with and without dementia.
Review
Frankfurt am Main, Germany. In Prog Neurobiol, 2011
Pathological 43-kDa transactive response sequence DNA-binding protein (TDP-43) has been recognized as the major disease protein in amyotrophic lateral sclerosis (ALS), frontotemporal lobar degeneration with ubiquitin positive, tau and α-synuclein negative inclusions (FTLD-U) and the transitional forms between these multisystem conditions.
Diagnosis of congenital myasthenic syndrome with mutation of the RAPSN gene after general anaesthesia.
GeneRIF
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.
GeneRIF
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.
GeneRIF
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
Multiexon deletions account for 15% of congenital myasthenic syndromes with RAPSN mutations after negative DNA sequencing.
GeneRIF
Paris, France. In J Med Genet, 2010
An allelic quantification on patient's DNA identified three novel multi-exon deletions of RAPSN.
[Molecular bases and therapeutic strategies in defective neuromuscular transmissions: lessons learned from a prototypical synapse].
Review
Nagoya, Japan. In Nihon Shinkei Seishin Yakurigaku Zasshi, 2009
(4) Rapsyn clusters AChR at the endplate, and its defects cause endplate AChR deficiency.
Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients.
GeneRIF
Rochester, United States. In Neurology, 2009
All but 1 patient presented early in life and most responded to cholinergic agonists. With early diagnosis and therapy, rapsyn deficiency has a benign course in most patients.
Identification and characterization of polyubiquitin gene from cDNA library of aspergillus fumigatus.
Dili, East Timor. In Indian J Clin Biochem, 2005
The recombinant expression of fusion protein showed an approximately molecular weight of 43-kDa on SDS-PAGE.
A novel protein that participates in nonself discrimination of malignant cells by homologous complement.
Impact
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.
