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Our work has not only expanded the number of pre-mRNA targets for RBM10 (显示 RBM10 抗体), but identified RBM10 (显示 RBM10 抗体) as a novel regulator of SMN2 (显示 SMN1 抗体) alternative inclusion.
We have now identified A-44G as an additional positive disease modifier, present in a group of patients carrying 3 SMN2 (显示 SMN1 抗体) copies. Through systematic mutagenesis, we found that the improvement in exon 7 splicing is mainly attributable to the A-44G transition in intron 6.
Ongoing research may yield other treatments, especially for children who have not responded to Spinraza. A gene therapy delivered by adeno (显示 ADORA2A 抗体)-associated virus type 9 (AAV9) is designed to replace or correct SMN1 (显示 SMN1 抗体) . Cure SMA (显示 SMN1 抗体) is supporting research in this area as well as studies of small molecules that correct SMN2 (显示 SMN1 抗体) splicing or spur it to produce more protein.
To determine the dependence of oligodendrocyte (OL)on the Smn (显示 STMN1 抗体) protein(SMN1 (显示 SMN1 抗体)), we utilized the Smn (显示 STMN1 抗体)-/-;SMN2 (显示 SMN1 抗体) (severe) mouse model. Our data suggest that despite the multi-functionality and ubiquitous expression of the Smn (显示 STMN1 抗体) protein, it does not play a key role in myelination of the CNS, at least in the context of spinal muscular atrophy pathogenesis.
The spleen is disproportionately small in the murine model of spinal muscular atrophy with a deficiency in SMN2 (显示 SMN1 抗体).
Low SMN2 (显示 SMN1 抗体) expression is associated with Spinal Muscular Atrophy.
we have characterized SMN (显示 STMN1 抗体)-C1, a low-molecular weight compound that corrects alternative splicing defects of SMN2 (显示 SMN1 抗体) exon 7. We evaluated SMN (显示 STMN1 抗体)-C1 pharmacokinetics in mice, the dose-response of SMN (显示 STMN1 抗体)-C1 induction of SMN (显示 STMN1 抗体) protein in two mouse models of SMA (显示 SMN1 抗体), the correlation between SMN (显示 STMN1 抗体)-C1 PK and SMN (显示 STMN1 抗体) protein induction in vivo, and demonstrated that the peripheral SMN (显示 STMN1 抗体) protein levels correlated with CNS SMN (显示 STMN1 抗体) protein levels
Deletion in SMN2 (显示 SMN1 抗体) gene is associated with spinal muscular atrophy.
Thus, we can conclude that SMN2 (显示 SMN1 抗体) methylation may regulate the SMA (显示 SMN1 抗体) disease phenotype by modulating its transcription.
This study demonstrated that Deficiency of the Survival of SMN2 (显示 SMN1 抗体) Impairs mRNA Localization and Local Translation in the Growth Cone of Motor Neurons
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. While mutations in the telomeric copy are associated with spinal muscular atrophy, mutations in this gene, the centromeric copy, do not lead to disease. This gene 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 full length 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. Four transcript variants encoding distinct isoforms have been described.
component of gems 1
, survival motor neuron protein
, tudor domain containing 16B
, survival of motor neuron 2, centromeric