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anti-Human SMN1 Antibodies:
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The increases of the SMN1 and SC35 (show SRSF2 Antibodies) 1.7-kb mRNA levels reached about 4- and 6.5-fold in fibroblasts.
Loganin is capable of increas-ing the SMN (show STMN1 Antibodies) protein level under SMN (show STMN1 Antibodies)-deficient conditions both inin vitro and in vivo models of spinal muscular atrophy via Akt (show AKT1 Antibodies)/mTOR (show FRAP1 Antibodies) pathway.
Activation of a cryptic 5' splice site in transcripts derived from SMN1 reversed a pathogenic G-to-C mutation at the first position of intron 7.
Mutation in SMN1 is associated with Spinal Muscular Atrophy.
Research has shown that SMN (show STMN1 Antibodies), both on the mRNA and protein level, is highly affected by cellular stress. In this review we will summarize the research that highlights the roles of SMN (show STMN1 Antibodies) in the disease process and the response of SMN (show STMN1 Antibodies) to various environmental stresses.
Ongoing research may yield other treatments, especially for children who have not responded to Spinraza. A gene therapy delivered by adeno (show ADORA2A Antibodies)-associated virus type 9 (AAV9) is designed to replace or correct SMN1 . Cure SMA is supporting research in this area as well as studies of small molecules that correct SMN2 splicing or spur it to produce more protein.
In lesional SSc (show CYP11A1 Antibodies) dermal fibroblasts, GKT-137831 reduced alpha-SMA and CCN2 (show CTGF Antibodies) protein overexpression and collagen gel contraction
Carrier risks for individuals having two copies of SMN1 in SMA families with 2-copy alleles were deduced. A meta-analysis including large sample sizes from the Chinese population was performed in order to generate a solid data basis for this calculation.
From the computational analysis, it is also possible that SMN's Lys45 and Asp36 act as two electrostatic clips at the SMN (show STMN1 Antibodies)-Gemin2 (show GEMIN2 Antibodies) complex structure interface
our studies show that this G-motif represents a novel and essential determinant for axonal localization of the Anxa2 (show ANXA2 Antibodies) mRNA mediated by the SMN (show STMN1 Antibodies) complex.
miR (show MLXIP Antibodies)-431 expression was highly increased, and a number of its putative mRNA targets were significantly downregulated in motor neurons after SMN (show STMN1 Antibodies) loss. Further, we found that miR (show MLXIP Antibodies)-431 regulates motor neuron neurite length by targeting several molecules previously identified to play a role in motor neuron axon outgrowth, including chondrolectin (show CHODL Antibodies)
To determine the dependence of oligodendrocyte (OL)on the Smn (show STMN1 Antibodies) protein(SMN1), we utilized the Smn (show STMN1 Antibodies)-/-;SMN2 (severe) mouse model. Our data suggest that despite the multi-functionality and ubiquitous expression of the Smn (show STMN1 Antibodies) protein, it does not play a key role in myelination of the CNS, at least in the context of spinal muscular atrophy pathogenesis.
A long non-coding RNA (lncRNA) that arises from the antisense strand of SMN (show STMN1 Antibodies), SMN (show STMN1 Antibodies)-AS1 (show ARSB Antibodies), is enriched in neurons and transcriptionally represses SMN (show STMN1 Antibodies) expression by recruiting the epigenetic Polycomb (show CBX2 Antibodies) repressive complex-2.
SMN1 expression restoration is curative in a spinal muscular atrophy model mice.
Survival motor neuron 1, and survival motor neuron 2, depletion results in increased alternative splicing events.
these results demonstrate that SMN (show STMN1 Antibodies) deficiency impacts spleen development and suggests a potential role for immunological development in Spinal muscular atrophy.
Itch monoubiquitinates SMN (show STMN1 Antibodies) and monoubiquitination of SMN (show STMN1 Antibodies) plays an important role in regulating its cellular localization.
muscle does not appear to require high levels of SMN (show STMN1 Antibodies) above what is produced by two copies of SMN2
Data show that the coding sequence of survival of motor neuron 2 (SMN2) differs from that of survival motor neuron 1 (SMN1) by a single nucleotide (c.840C>T) at codon 280 in exon 7.
SMN (show SNRPN Antibodies) protein functions in cytoplasmic Sm-core assembly and in the recruitment of the snRNA cap hypermethylase
In motor neurons, smn1 interacts with the RNA binding protein (show RBM24 Antibodies), HuD (show ELAVL4 Antibodies) and regulates motoneuron development and function.
our finding that elevation of Pgk1 (show PGK1 Antibodies) levels or activity, via injection of Pgk1 (show PGK1 Antibodies) mRNA or treatment with terazosin respectively, robustly ameliorated MN pathology in smn (show SNRPN Antibodies) morphant zebrafish provides an initial demonstration that these pathways are amenable to therapeutic intervention.
Since Gemin2 (show GEMIN2 Antibodies) and SMN (show SNRPN Antibodies) both function in snRNP (show LSM2 Antibodies) biogenesis yet only SMN (show SNRPN Antibodies) knockdown causes motor axon defects, these data are consistent with an additional role for SMN (show SNRPN Antibodies) that is snRNP (show LSM2 Antibodies) independent.
SMN (show SNRPN Antibodies) deficiency affects splicing and abundance of nrxn2a. This may explain the pre-synaptic defects at neuromuscular endplates in SMA pathophysiology.
SMN (show SNRPN Antibodies) is needed early in development of motoneuron dendrites and axons to develop normally and that this is essential for proper connectivity and movement.
These results show that survival motor neuron functions in motor axon development and suggest that these early developmental defects may lead to subsequent motoneuron loss.
Survival motor neuron has a novel function in motor neurons independent of small nuclear ribonucleoprotein (snRNP (show LSM2 Antibodies)) biosynthesis.
Smn (show SNRPN Antibodies) mutants in zebrafish survive to larval stages and exhibit presynaptic neuromuscular junction defects.
This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. The telomeric and centromeric copies of this gene are nearly identical and encode the same protein. However, mutations in this gene, the telomeric copy, are associated with spinal muscular atrophy\; mutations in the centromeric copy do not lead to disease. The centromeric copy may be a modifier of disease caused by mutation in the telomeric copy. The critical sequence difference between the two genes is a single nucleotide in exon 7, which is thought to be an exon splice enhancer. Note that the nine exons of both the telomeric and centromeric copies are designated historically as exon 1, 2a, 2b, and 3-8. It is thought that gene conversion events may involve the two genes, leading to varying copy numbers of each gene. The protein encoded by this gene localizes to both the cytoplasm and the nucleus. Within the nucleus, the protein localizes to subnuclear bodies called gems which are found near coiled bodies containing high concentrations of small ribonucleoproteins (snRNPs). This protein forms heteromeric complexes with proteins such as SIP1 and GEMIN4, and also interacts with several proteins known to be involved in the biogenesis of snRNPs, such as hnRNP U protein and the small nucleolar RNA binding protein. Two transcript variants encoding distinct isoforms have been described.
survival motor neuron 1
, survival motor neuron protein
, component of gems 1
, survival motor neuron 1 protein
, tudor domain containing 16A
, survival of motor neuron protein
, survival motor neuron protein 1