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Spectrin repeat containing, nuclear envelope 1

CPG2, 8 B, Syne-1, nesprin-1
This gene encodes a spectrin repeat containing protein expressed in skeletal and smooth muscle, and peripheral blood lymphocytes, that localizes to the nuclear membrane. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia 8, also referred to as autosomal recessive cerebellar ataxia type 1 or recessive ataxia of Beauce. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: carboxypeptidase, ACID, CAN, Actin, HAD
Papers on CPG2
CPG2 Recruits Endophilin B2 to the Cytoskeleton for Activity-Dependent Endocytosis of Synaptic Glutamate Receptors.
Nedivi et al., Cambridge, United States. In Curr Biol, Feb 2016
A role for the F-actin cytoskeleton in CME is well established, and recently, PKA-dependent association of candidate plasticity gene 2 (CPG2) with the spine-cytoskeleton has been shown to mediate synaptic glutamate receptor internalization.
Identification of genomic mutations associated with clinical outcomes of induction chemotherapy in patients with head and neck squamous cell carcinoma.
Heo et al., Seoul, South Korea. In J Cancer Res Clin Oncol, Jan 2016
Thirty-three mutations in TP53, NOTCH3, FGFR2, FGFR3, ATM, EGFR, MET, PTEN, FBXW7, SYNE1, and SUFU were frequently altered in poor responders.
Genomic mapping and cellular expression of human CPG2 transcripts in the SYNE1 gene.
Nedivi et al., Cambridge, United States. In Mol Cell Neurosci, Jan 2016
The BD associated SNPs map within the gene region homologous to part of rat Syne1 encompassing the brain specific transcripts encoding CPG2, a postsynaptic neuronal protein localized to excitatory synapses and an important regulator of glutamate receptor internalization.
Association of AGTR1 Promoter Methylation Levels with Essential Hypertension Risk: A Matched Case-Control Study.
Zhang et al., Ningbo, China. In Cytogenet Genome Res, Jan 2016
In addition, significantly lower CpG1 (p = 0.028) and higher CpG2 (p = 0.032) methylation levels were observed in males than in females.
Sex difference of autosomal alleles in populations of European and African descent.
Luo et al., New Haven, United States. In Journal 2093-4947, Jan 2016
We found 13 markers that were genome-wide significant (p≤5×10(-8)) between females and males in the meta-analysis of all cohorts of European descent, including rs7740449 at SYNE1, rs7531151 at PLD5, rs697455 at PPP1R12B, rs6745746 at LOC100128413, rs17000079 at PARM1, rs11948070 at PDE4D, rs7801825 at INSIG1, rs9551642 at MTUS2, rs2932174 at TPTE2, rs1961597 at SALL3, rs4117529 at METTL4, rs6021473 at SALL4 and rs6092466 at RAE1, and one marker, i.e., rs10145208 at PCNX, that was genome-wide significant in the meta-analysis of all cohorts of African descent.
[Study on immunologic function of thioredoxin glutathione reductase from Schistosoma japonicum].
Yang et al., In Zhongguo Xue Xi Chong Bing Fang Zhi Za Zhi, Aug 2015
METHODS: Seventy-five mice were randomly divided into 5 groups, namely, blank group, PBS group, CpG2 immunized group, TGR immunized group and TGR + CpG2 co-immunized group.
New developments in the genetics of bipolar disorder.
Potash et al., Iowa City, United States. In Curr Psychiatry Rep, 2014
These have resulted in findings in genes including ANK3, CACNA1C, SYNE1, ODZ4, and TRANK1.
The plant LINC complex at the nuclear envelope.
Graumann et al., Clermont-Ferrand, France. In Chromosome Res, 2014
The LINC complex is made of Sad1/Unc84 (SUN) and Klarsicht/Anc1/Syne1 homology (KASH) proteins which have been recently characterized in plants.
Isolated nuclei adapt to force and reveal a mechanotransduction pathway in the nucleus.
Burridge et al., Chapel Hill, United States. In Nat Cell Biol, 2014
Using magnetic tweezers, we found that applying force on nesprin-1 triggers nuclear stiffening that does not involve chromatin or nuclear actin, but requires an intact nuclear lamina and emerin, a protein of the inner nuclear membrane.
Animal models to study the mutational landscape for oral cavity and oropharyngeal cancers.
Widau et al., Chicago, United States. In J Oral Maxillofac Res, 2012
The genes identified by NGS included p53, RAS, Human Papillomavirus oncogenes, as well as novel genes such as NOTCH1, DICER and SYNE1,2.
Role of nesprin-1 in nuclear deformation in endothelial cells under static and uniaxial stretching conditions.
Sato et al., Sendai, Japan. In Biochem Biophys Res Commun, 2012
These results indicate that nesprin-1 knockdown releases the nucleus from the tension of F-actin bound to the nucleus, thereby increasing allowance for deformation before stretching, and that F-actin bound to the nucleus through nesprin-1 causes sustainable force transmission to the nucleus.
LINC complexes form by binding of three KASH peptides to domain interfaces of trimeric SUN proteins.
Schwartz et al., Cambridge, United States. In Cell, 2012
Study presents crystal structures of the human SUN2-KASH1/2 complex, i.e. SUN2 complexed with the C-terminal 29 residues of human Nesprin-1 or -2 (the core of the LINC 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.
Multiple novel nesprin-1 and nesprin-2 variants act as versatile tissue-specific intracellular scaffolds.
Shanahan et al., London, United Kingdom. In Plos One, 2011
Multiple novel nesprin-1 and nesprin-2 variants act as versatile tissue-specific intracellular scaffolds.
Nesprin-3: a versatile connector between the nucleus and the cytoskeleton.
Sonnenberg et al., Amsterdam, Netherlands. In Biochem Soc Trans, 2011
Nesprin-1 and -2 can establish a direct link with actin filaments, whereas nesprin-4 associates indirectly with microtubules through its interaction with kinesin-1.
Increased expression of Syne1/nesprin-1 facilitates nuclear envelope structure changes in embryonic stem cell differentiation.
Xu et al., Miami, United States. In Dev Dyn, 2011
Data show that low expression of Syne1 splicing isoforms accounts for the wider and irregular nuclear envelope inter-membrane space in embryonic stem cells.
Actomyosin tension exerted on the nucleus through nesprin-1 connections influences endothelial cell adhesion, migration, and cyclic strain-induced reorientation.
Lele et al., Gainesville, United States. In Biophys J, 2010
Nesprin-1 depletion increased the number of focal adhesions and substrate traction while decreasing the speed of cell migration
Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia.
Rouleau et al., Montréal, Canada. In Nat Genet, 2007
SYNE1 is the first identified gene responsible for a recessively inherited pure cerebellar ataxia.
A cell surface tethered enzyme improves efficiency in gene-directed enzyme prodrug therapy.
Springer et al., United Kingdom. In Nat Biotechnol, 1997
The potential for expressing the bacterial enzyme carboxypeptidase G2 (CPG2) tethered to the outer surface of mammalian cells was examined for use in gene-directed enzyme prodrug therapy.
Carboxypeptidase G2 rescue after high-dose methotrexate.
Bertino et al., New York City, United States. In J Clin Oncol, 1996
PURPOSE: This study was a pilot project to assess the safety and efficacy of carboxypeptidase G2 (CPG2) rescue from high-dose (HD) methotrexate (MTX) in patients with recurrent cerebral lymphoma.
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