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.
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
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.
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.
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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