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anti-Human SMN1 Antibodies:
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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.
Loss of SMN1 is associated with Spinal muscular atrophy.
A rare variant in exon 7 of SMN1 in three patients affected with type I or type II SMA. Most of the SMN1 transcripts exhibited complete loss of exon 7 in vivo. The variant disrupts Tra2beta1 binding.
These results establish that SMN overexpression in motor neurons slows disease onset and outcome by ameliorating pathological signs in this model of mutant TDP-43-mediated amyotrophic lateral sclerosis (ALS).
A long non-coding RNA (lncRNA) that arises from the antisense strand of SMN (show STMN1 Antibodies), SMN (show STMN1 Antibodies)-AS1 (show PTGDR Antibodies), is enriched in neurons and transcriptionally represses SMN (show STMN1 Antibodies) expression by recruiting the epigenetic Polycomb (show CBX2 Antibodies) repressive complex-2.
We show that genes of the classical apoptosis pathway are involved in the smn-1-mediated neuronal death, and that this phenotype can be rescued by the expression of human SMN1, indicating a functional conservation between the two orthologs. Finally, we determined that Plastin3/plst-1 genetically interacts with smn-1 to prevent degeneration, and that treatment with valproic acid is able to rescue the degenerative phenotype
SMN (show STMN1 Antibodies) functions as a natural inhibitor for IL-1beta (show IL1B Antibodies)-induced NF-kappaB (show NFKB1 Antibodies) signaling by targeting TRAF6 (show TRAF6 Antibodies) and the IKK (show CHUK 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
Findings demonstrate that high expression of SMN (show STMN1 Antibodies) in the motor neuron is both necessary and sufficient for proper function of the motor unit. In addition, SMN (show STMN1 Antibodies) high expression in neurons and glia has a major impact on survival.
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
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