Effects of Boron Purity, Mg Stoichiometry and Carbon Substitution on Properties of Polycrystalline MgB2_{2}

By synthesizing MgB$_{2}$ using boron of different nominal purity we found values of the residual resistivity ratio ($RRR = R(300 K) / R(42 K)$) from 4 to 20, which covers almost all values found in literature. To obtain high values of $RRR$, high purity reagents are necessary. With the isotopically pure boron we obtained the highest $RRR \sim$ 20 for the stoichiometric compound. We also investigated Mg$_{x}$$^{11}$B$_{2}$ samples with 0.8 $< x <$ 1.2. For the range Mg$_{0.8}$$^{11}$B$_{2}$ up to Mg$_{1.2}$$^{11}$B$_{2}$ we found average values of $RRR$ between 14 and 24. For smaller variations in stoichiometry ($x=1\pm 0.1$) $RRR = 18 \pm 3$. All of our data point to the conclusion that high $RRR$ ($\sim 20$) and low $\rho_{0}$ ($\leq 0.4 \mu \Omega cm$) are intrinsic material properties associated with high purity MgB$_{2}$. In addition we have performed initial work on optimizing the formation of carbon doped MgB$_{2}$ via the use of B$_{4}$C. Nearly single phase material can be formed by reaction of nominal Mg(B$_{0.8}$C$_{0.2}$)$_{2}$ for 24 hours at $1200^{\circ}C$. The $T_{c}$ for this composition is between $21.9 K$ and $22.7 K$ (depending on criterion).Comment: accepted to Physica C, special MgB2 issu

Rescue of spinal muscular atrophy mouse models with AAV9-Exon-specific U1 snRNA

Spinal Muscular Atrophy results from loss-of-function mutations in SMN1 but correcting aberrant splicing of SMN2 offers hope of a cure. However, current splice therapy requires repeated infusions and is expensive. We previously rescued SMA mice by promoting the inclusion of a defective exon in SMN2 with germline expression of Exon-Specific U1 snRNAs (ExspeU1). Here we tested viral delivery of SMN2 ExspeU1s encoded by adeno-associated virus AAV9. Strikingly the virus increased SMN2 exon 7 inclusion and SMN protein levels and rescued the phenotype of mild and severe SMA mice. In the severe mouse, the treatment improved the neuromuscular function and increased the life span from 10 to 219 days. ExspeU1 expression persisted for 1 month and was effective at around one five-hundredth of the concentration of the endogenous U1snRNA. RNA-seq analysis revealed our potential drug rescues aberrant SMA expression and splicing profiles, which are mostly related to DNA damage, cell-cycle control and acute phase response. Vastly overexpressing ExspeU1 more than 100-fold above the therapeutic level in human cells did not significantly alter global gene expression or splicing. These results indicate that AAV-mediated delivery of a modified U1snRNP particle may be a novel therapeutic option against SMA