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the involvement of calpain in survival motor neuron 1 regulation on motor neurons, was examined.
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Controlled light (CL) exposure restores the expression of circadian rhythm genes and attenuates the severe spinal muscular atrophy (SMA) phenotype with beneficial effects on survival and weight.
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To further assess the effects of Spinal muscular atrophy deficiency on the liver, we employed the severe Taiwanese model (Smn1-/-, SMN20/2TG) that has a mean survival of 10 days, with healthy heterozygous littermates (Smn1+/-, SMN20/2TG) as controls
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We here present a comprehensive overview of SMN protein expression variation across different tissues and at different developmental time points in healthy control mice, as well as in two established mouse models of SMA. As SMN levels were determined using robust methodology we were able to make direct and reliable comparisons between a severe and an intermediate SMA model.
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Of the six biomarkers, only COMP and DPP4 showed high and SPP1 moderate correlation with the spinal muscular atrophy phenotype. PLS3 overexpression neither influenced the SMN level nor the six biomarkers, supporting the hypothesis that PLS3 acts as an independent protective modifier.
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Spinal muscular atrophy (SMA)-causing missense mutations that block multimerization of full-length SMN are also stabilized in the degron mutant background. Overexpression of SMNDelta7S270A, but not wild-type (WT) SMNDelta7, provides a protective effect in SMA model mice and human motor neuron cell culture systems.
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Survival Motor Neuron (SMN) protein is required for normal mouse liver development
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Widespread intron retention, particularly of minor U12 introns, in the spinal cord of mice 30 d after SMA induction.
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A proteomic profile of embryonic stem cells with low smn protein revealed thematic changes consistent with the developmental dysfunction seen in the pathophysiological development of patients with spinal muscular atrophy. Pathways associated with mRNA spicing, protein translation, post-translational modification and perhaps most striking, mitochondrial function and specifically mitochondrial dysfunction were highlighted.
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Loganin is capable of increas-ing the SMN protein level under SMN-deficient conditions both inin vitro and in vivo models of spinal muscular atrophy via Akt/mTOR pathway.
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miR-431 expression was highly increased, and a number of its putative mRNA targets were significantly downregulated in motor neurons after SMN loss. Further, we found that miR-431 regulates motor neuron neurite length by targeting several molecules previously identified to play a role in motor neuron axon outgrowth, including chondrolectin
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To determine the dependence of oligodendrocyte (OL)on the Smn protein(SMN1), we utilized the Smn-/-;SMN2 (severe) mouse model. Our data suggest that despite the multi-functionality and ubiquitous expression of the Smn protein, it does not play a key role in myelination of the CNS, at least in the context of spinal muscular atrophy pathogenesis.
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our studies show that this G-motif represents a novel and essential determinant for axonal localization of the Anxa2 mRNA mediated by the SMN complex.
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A long non-coding RNA (lncRNA) that arises from the antisense strand of SMN, SMN-AS1, is enriched in neurons and transcriptionally represses SMN expression by recruiting the epigenetic Polycomb repressive complex-2.
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SMN1 expression restoration is curative in a spinal muscular atrophy model mice.
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Survival motor neuron 1, and survival motor neuron 2, depletion results in increased alternative splicing events.
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these results demonstrate that SMN deficiency impacts spleen development and suggests a potential role for immunological development in Spinal muscular atrophy.
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Itch monoubiquitinates SMN and monoubiquitination of SMN plays an important role in regulating its cellular localization.
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muscle does not appear to require high levels of SMN above what is produced by two copies of SMN2
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Findings demonstrate that high expression of SMN in the motor neuron is both necessary and sufficient for proper function of the motor unit. In addition, SMN high expression in neurons and glia has a major impact on survival.