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Human SMN2 Protein expressed in Wheat germ - ABIN1320680
Cucchiarini, Madry, Terwilliger: Enhanced expression of the central survival of motor neuron (SMN) protein during the pathogenesis of osteoarthritis. in Journal of cellular and molecular medicine 2013
To determine the dependence of oligodendrocyte (OL)on the Smn (show STMN1 Proteins) protein(SMN1 (show SMN1 Proteins)), we utilized the Smn (show STMN1 Proteins)-/-;SMN2 (show SMN1 Proteins) (severe) mouse model. Our data suggest that despite the multi-functionality and ubiquitous expression of the Smn (show STMN1 Proteins) 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 (show SMN1 Proteins).
Low SMN2 (show SMN1 Proteins) expression is associated with Spinal Muscular Atrophy.
we have characterized SMN (show STMN1 Proteins)-C1, a low-molecular weight compound that corrects alternative splicing defects of SMN2 (show SMN1 Proteins) exon 7. We evaluated SMN (show STMN1 Proteins)-C1 pharmacokinetics in mice, the dose-response of SMN (show STMN1 Proteins)-C1 induction of SMN (show STMN1 Proteins) protein in two mouse models of SMA (show SMN1 Proteins), the correlation between SMN (show STMN1 Proteins)-C1 PK and SMN (show STMN1 Proteins) protein induction in vivo, and demonstrated that the peripheral SMN (show STMN1 Proteins) protein levels correlated with CNS SMN (show STMN1 Proteins) protein levels
Deletion in SMN2 (show SMN1 Proteins) gene is associated with spinal muscular atrophy.
Thus, we can conclude that SMN2 (show SMN1 Proteins) methylation may regulate the SMA (show SMN1 Proteins) disease phenotype by modulating its transcription.
This study demonstrated that Deficiency of the Survival of SMN2 (show SMN1 Proteins) Impairs mRNA Localization and Local Translation in the Growth Cone of Motor Neurons
Inverse correlation was observed between SMN2 (show SMN1 Proteins), SERF1A and NAIP (show NAIP Proteins) copy number polymorphism and spinal muscular atrophy type.
Loss of SMN2 (show SMN1 Proteins) expression is associated with Spinal muscular atrophy.
Depletion of two of the most potent inhibitors of SMP2 (show LPIN3 Proteins) exon 7 inclusion, SRSF2 (show SRSF2 Proteins) or SRSF3 (show SRSF3 Proteins), in cell lines derived from SMA (show SMN1 Proteins) patients, increased SMN2 (show SMN1 Proteins) exon 7 inclusion and SMN (show STMN1 Proteins) 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. 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