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miR (show MLXIP ELISA Kits)-431 expression was highly increased, and a number of its putative mRNA targets were significantly downregulated in motor neurons after SMN (show STMN1 ELISA Kits) loss. Further, we found that miR (show MLXIP ELISA Kits)-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 ELISA Kits)
To determine the dependence of oligodendrocyte (OL)on the Smn (show STMN1 ELISA Kits) protein(SMN1), we utilized the Smn (show STMN1 ELISA Kits)-/-;SMN2 (severe) mouse model. Our data suggest that despite the multi-functionality and ubiquitous expression of the Smn (show STMN1 ELISA Kits) protein, it does not play a key role in myelination of the CNS, at least in the context of spinal muscular atrophy pathogenesis.
our studies show that this G-motif represents a novel and essential determinant for axonal localization of the Anxa2 (show ANXA2 ELISA Kits) mRNA mediated by the SMN (show STMN1 ELISA Kits) complex.
A long non-coding RNA (lncRNA) that arises from the antisense strand of SMN (show STMN1 ELISA Kits), SMN (show STMN1 ELISA Kits)-AS1 (show ARSB ELISA Kits), is enriched in neurons and transcriptionally represses SMN (show STMN1 ELISA Kits) expression by recruiting the epigenetic Polycomb (show CBX2 ELISA Kits) 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 ELISA Kits) deficiency impacts spleen development and suggests a potential role for immunological development in Spinal muscular atrophy.
Itch monoubiquitinates SMN (show STMN1 ELISA Kits) and monoubiquitination of SMN (show STMN1 ELISA Kits) plays an important role in regulating its cellular localization.
muscle does not appear to require high levels of SMN (show STMN1 ELISA Kits) above what is produced by two copies of SMN2
Findings demonstrate that high expression of SMN (show STMN1 ELISA Kits) in the motor neuron is both necessary and sufficient for proper function of the motor unit. In addition, SMN (show STMN1 ELISA Kits) 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 ELISA Kits) protein functions in cytoplasmic Sm-core assembly and in the recruitment of the snRNA cap hypermethylase
The spleen is disproportionately small in the murine model of spinal muscular atrophy with a deficiency in SMN2.
Low SMN2 expression is associated with Spinal Muscular Atrophy.
we have characterized SMN (show STMN1 ELISA Kits)-C1, a low-molecular weight compound that corrects alternative splicing defects of SMN2 exon 7. We evaluated SMN (show STMN1 ELISA Kits)-C1 pharmacokinetics in mice, the dose-response of SMN (show STMN1 ELISA Kits)-C1 induction of SMN (show STMN1 ELISA Kits) protein in two mouse models of SMA, the correlation between SMN (show STMN1 ELISA Kits)-C1 PK and SMN (show STMN1 ELISA Kits) protein induction in vivo, and demonstrated that the peripheral SMN (show STMN1 ELISA Kits) protein levels correlated with CNS SMN (show STMN1 ELISA Kits) protein levels
Deletion in SMN2 gene is associated with spinal muscular atrophy.
Thus, we can conclude that SMN2 methylation may regulate the SMA disease phenotype by modulating its transcription.
This study demonstrated that Deficiency of the Survival of SMN2 Impairs mRNA Localization and Local Translation in the Growth Cone of Motor Neurons
Inverse correlation was observed between SMN2, SERF1A and NAIP (show NAIP ELISA Kits) copy number polymorphism and spinal muscular atrophy type.
Loss of SMN2 expression is associated with Spinal muscular atrophy.
Depletion of two of the most potent inhibitors of SMP2 (show LPIN3 ELISA Kits) exon 7 inclusion, SRSF2 (show SRSF2 ELISA Kits) or SRSF3 (show SRSF3 ELISA Kits), in cell lines derived from SMA patients, increased SMN2 exon 7 inclusion and SMN (show STMN1 ELISA Kits) protein level.
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