Markus Riessland

TL;DR: Treatment with suberoylanilide hydroxamic acid (SAHA), a FDA-approved histone deacetylase inhibitor, increased lifespan of SMA mice by 30%, significantly improved motor function abilities, reduced degeneration of motor neurons within the spinal cord and increased the size of neuromuscular junctions and muscle fibers compared with vehicle-treated SMA animals.

TL;DR: The data indicate that SMA-associated reduction of UBA1 contributes to neuromuscular pathogenesis through disruption of ubiquitin homeostasis and subsequent β-catenin signaling, highlighting ubiquit in homeostases and β-Catenin as potential therapeutic targets for SMA.

TL;DR: Plastin 3 (PLS3), a protein involved in the formation of filamentous actin (F-actin) bundles, appears to be important in human bone health, on the basis of pathogenic variants in PLS3 in five families with X-linked osteoporotic fractures that are reported here.

TL;DR: Clinical trials have revealed that SAHA, which is under investigation for cancer treatment, has a good oral bioavailability and is well tolerated, allowing in vivo concentrations shown to increase SMN levels to be achieved, and may allow deceleration of progressive α‐motoneurone degeneration by epigenetic SMN2 gene activation.

TL;DR: It is shown that the novel benzamide M344, an HDAC inhibitor, up-regulates SMN2 protein expression in fibroblast cells derived from SMA patients up to 7-fold after 64 h of treatment, which is the strongest in vitro effect of a drug on the SMN protein level reported so far.